Mutations in the MECP2 gene underlie Rett syndrome, an autism spectrum disorder. Some studies have found that rare variations in the MECP2 gene are associated with autism, while others have looked and found no variants in autistic patients. It appears that EGR2 and MECP2 can regulate each other's expression (Swanberg et al., 2009).
Molecular Function
The encoded protein has methylation-dependent transcriptional repressor activity . It is also involved in regulation of RNA splicing.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
Inhibition of Elevated Ras-MAPK Signaling Normalizes Enhanced Motor Learning and Excessive Clustered Dendritic Spine Stabilization in the MECP2-Duplication Syndrome Mouse Model of Autism
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Conditional deletion of exon 3- 4 of the Mecp2 gene in male mice, using Nestin-cre, in neuronal, glial and other cell types in the central and peripheral nervous system
Allele Type: Conditional loss-of-function
Strain of Origin: C57BL/6J
Genetic Background: Not Specified
ES Cell Line: E14 TG2a
Mutant ES Cell Line: Not Specified
Model Source: Not Specified
Model Type:
Genetic
Model Genotype:
Hemizygous
Mutation:
Targeted Cre-loxP mediated deletion of exons 3 and 4 of Mecp2 gene.
Allele Type: Knockout
Strain of Origin: 129P2/OlaHsd
Genetic Background: C57BL/6*129P2/OlaHsd
ES Cell Line: E14 TG2a
Mutant ES Cell Line: Not Specified
Model Source: Not Specified
Model Type:
Genetic
Model Genotype:
Heterozygous
Mutation:
Targeted Cre-loxP mediated deletion of exons 3 and 4 of Mecp2 gene.
Allele Type: Knockout
Strain of Origin: C57BL/6J
Genetic Background: Not Specified
ES Cell Line: E14 TG2a
Mutant ES Cell Line: Not Specified
Model Source: Not Specified
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Conditional deletion of exon 3, which encodes most of the methyl-CpG-binding domain of Mecp2 using the CamkII-cre, in excitatory neurons of the forebrain, in male mice
Allele Type: Conditional loss-of-function
Strain of Origin: 129/Sv
Genetic Background: Not Specified
ES Cell Line: 129/Sv, B6129F1
Mutant ES Cell Line: Not Specified
Model Source: Not Specified
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Conditional deletion of exon 3 which encodes most of the methyl-CpG-binding domain of Mecp2 using Nestin-cre, in neuronal, glial and other cell types in the central and peripheral nervous system, in male mice
Allele Type: Conditional loss-of-function
Strain of Origin: 129/Sv
Genetic Background: Not Specified
ES Cell Line: 129/Sv, B6129F1
Mutant ES Cell Line: Not Specified
Model Source: Not Specified
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Targeting construct deletion of exon 3, which encodes most of the methyl-CpG-binding domain using the cre-loxP recombination system.
Allele Type: Knockout
Strain of Origin: 129/Sv
Genetic Background: Not Specified
ES Cell Line: 129/Sv, B6129F1
Mutant ES Cell Line: Not Specified
Model Source: Not Specified
Model Type:
Genetic
Model Genotype:
Transgenic
Mutation:
Mouse strain carrying human MECP2 transgene on an inbred FVB/N background; MECP2-TG mice harbor a ~99 kb P1 artificial chromosome (PAC 671D9) containing only the human MECP2 genomic locus;.
Allele Type: Transgenic
Strain of Origin: FVB/N
Genetic Background: FVB/N
ES Cell Line: FVB
Mutant ES Cell Line: Not Specified
Model Source: Zoghbi laboratory
Model Type:
Genetic
Model Genotype:
Transgenic
Mutation:
Mouse strain carrying human MECP2 transgene on a pure background (FVB/N , the trangene expression is approximately 7 fold of endogenous levels.
Allele Type: Transgenic
Strain of Origin: Genetic Background: FVB/N
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Taconic Farms
Model Type:
Genetic
Model Genotype:
Hemizygous
Mutation:
Targeted Cre-loxP mediated deletion of exons 3 and 4 of Mecp2 gene.
Allele Type: Knockout
Strain of Origin: C57BL/6J
Genetic Background: Not Specified
ES Cell Line: E14 TG2a
Mutant ES Cell Line: Not Specified
Model Source: Jackson Laboratory
Model Type:
Genetic
Model Genotype:
Hemizygous
Mutation:
Targeted deletion of the methyl-CpG-binding domain(MBD) coding region on exon 3 and first 170 bp of exon 4 and disruption of mRNA splicing in the Mecp2 gene.
Allele Type: Knockout
Strain of Origin: Not Specified
Genetic Background: 129 and 129xC57BL6
ES Cell Line: R1 129
Mutant ES Cell Line: Not Specified
Model Source: Not Specified
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Targeting construct deletion of exon 3, which encodes most of the methyl-CpG-binding domain using the cre-loxP recombination system.
Allele Type: Knockout
Strain of Origin: (C57BL/6 x 129S4/SvJae)F1
Genetic Background: 129Sv*C57BL/6*BALB/c
ES Cell Line: v6.5
Mutant ES Cell Line: Model Source: MMRRC
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Knock in of mutation of serine at position 80 to alanine in exon 3 of Mecp2 gene.
Allele Type: LOF knockin
Strain of Origin: C57/B6
Genetic Background: Not Specified
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
in utero transfection of short hairpin RNA mediated knock down of MeCP2 expression in a sparsely distributed subset of layer (L) 2/3 pyramidal neurons.
Allele Type: Knockdown
Strain of Origin: C57BL/6J
Genetic Background: Not Specified
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Conditional deletion of exon 3 which encodes most of the methyl-CpG-binding domain of the Mecp2 gene , using TH-cre, in dopaminergic and noradrenergic neurons of the substantia nigra/ventral tegmental area, locus ceruleus, medullary regions as well as in the peripheral nervous system and the adrenal medulla starting around E14.5 and expressed through adulthood in some regions, in male mice
Allele Type: Conditional loss-of-function
Strain of Origin: FVB/N
Genetic Background: Not Specified
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Conditional deletion of exon 3 which encodes most of the methyl-CpG-binding domain of the Mecp2 gene using PET1-cre, in serotonergic neurons starting E10 and persisting through adulthood, in male mice
Allele Type: Conditional loss-of-function
Strain of Origin: C56BL/6J
Genetic Background: Not Specified
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified
Model Type:
Genetic
Model Genotype:
Hemizygous
Mutation:
Targeted point mutation at nucleotide position 601 from a C to T resulting in the A140V missense mutation of Mecp2.
Allele Type: NDD LOF
Strain of Origin: 129S1/X1
Genetic Background: Not Specified
ES Cell Line: R1
Mutant ES Cell Line: Not Specified
Model Source: Not Specified
Model Type:
Genetic
Model Genotype:
Heterozygous
Mutation:
Targeted point mutation at nucleotide position 601 from a C to T resulting in the A140V missense mutation of Mecp2.
Allele Type: NDD LOF
Strain of Origin: 129S1/X1
Genetic Background: Not Specified
ES Cell Line: R1
Mutant ES Cell Line: Not Specified
Model Source: Not Specified
Model Type:
Genetic
Model Genotype:
Hemizygous
Mutation:
Conditional deletion of exon 3- 4 of the Mecp2 gene in male mice, using Dlx5/6-Cre, in gabaergic neurons of the forebrain and other brain regions
Allele Type: Conditional loss-of-function
Strain of Origin: Not Specified
Genetic Background: Not Specified
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified
Model Type:
Genetic
Model Genotype:
Hemizygous
Mutation:
Conditional deletion of exons 3-4 of Mecp2 gene in male mice, using CamkII-cre, in excitatory neurons of the forebrain
Allele Type: Conditional loss-of-function
Strain of Origin: Not Specified
Genetic Background: Not Specified
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified
Model Type:
Genetic
Model Genotype:
Hemizygous
Mutation:
Conditional deletion of exon 3- 4 of the Mecp2 gene in male mice, using Viaat-cre in GABAergic neurons in the CNS
Allele Type: Conditional loss-of-function
Strain of Origin: Not Specified
Genetic Background: Not Specified
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified
Model Type:
Genetic
Model Genotype:
Hemizygous
Mutation:
Knock in of mutation of threonine at position 158 to alanine using QuickChange site-directed mutagenesis.
Allele Type: NDD knockin
Strain of Origin: Not Specified
Genetic Background: sv129:C57BL/6
ES Cell Line: sv129
Mutant ES Cell Line: Not Specified
Model Source: Not Specified
Model Type:
Genetic
Model Genotype:
Heterozygous
Mutation:
Knock in of mutation of threonine at position 158 to alanine using QuickChange site-directed mutagenesis.
Allele Type: LOF knockin
Strain of Origin: Not Specified
Genetic Background: sv129:C57BL/6
ES Cell Line: sv129
Mutant ES Cell Line: Not Specified
Model Source: Not Specified
Model Type:
Multifactorial
Model Genotype:
Hemizygous
Mutation:
Targeted Cre-loxP mediated deletion of exons 3 and 4 of Mecp2 gene followed by administration of 100 microg/ml of corticosterone in drinking water from 3 weeks of age.
Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: C57BL/6
ES Cell Line: Not specified
Mutant ES Cell Line: Not specified
Model Source: Not specified
Model Type:
Multifactorial
Model Genotype:
Hemizygous
Mutation:
Targeted Cre-loxP mediated deletion of exons 3 and 4 of Mecp2 gene followed by administration of 10 microg/ml of corticosterone in drinking water from 3 weeks of age.
Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: C57BL/6
ES Cell Line: Not specified
Mutant ES Cell Line: Not specified
Model Source: Not specified
Model Type:
Multifactorial
Model Genotype:
Hemizygous
Mutation:
Targeted Cre-loxP mediated deletion of exons 3 and 4 of Mecp2 gene followed by administration of 100 microg/ml of corticosterone in drinking water from 3 weeks of age.
Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: C57BL/6
ES Cell Line: Not specified
Mutant ES Cell Line: Not specified
Model Source: Not specified
Model Type:
Multifactorial
Model Genotype:
Hemizygous
Mutation:
Targeted Cre-loxP mediated deletion of exons 3 and 4 of Mecp2 gene followed by administration of 10 microg/ml of corticosterone in drinking water from 3 weeks of age.
Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: C57BL/6
ES Cell Line: Not specified
Mutant ES Cell Line: Not specified
Model Source: Not specified
Model Type:
Genetic
Model Genotype:
Hemizygous
Mutation:
Targeting construct deletion of exon 3, which encodes most of the methyl-CpG-binding domain using the cre-loxP recombination system (Mecp2tm1.1Jae/y mice).
Allele Type: Knockout
Strain of Origin: 129/Sv
Genetic Background: C57Bl/6J
ES Cell Line: Mutant ES Cell Line: Model Source: Jaenisch laboratory, MIT (PMID 11242118)
Model Type:
Genetic
Model Genotype:
Transgenic
Mutation:
Mouse strain carrying human MECP2 transgene on a hybrid background (FVB/N x C57Bl/6).
Allele Type: Transgenic
Strain of Origin: FVB/N
Genetic Background: FVB/N x129S6Sv/Ev
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: MMRRC
Model Type:
Genetic
Model Genotype:
Transgenic
Mutation:
Mouse strain carrying human MECP2 transgene on a hybrid background (FVB/N x C57Bl/6).
Allele Type: Transgenic
Strain of Origin: FVB/N
Genetic Background: (FVB/N*C57Bl/6)
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: PMID 22231481
Model Type:
Genetic
Model Genotype:
Transgenic
Mutation:
Mouse strain carrying human MECP2 transgene on a hybrid background (FVB/N x 129S6/SvEv), the trangene expression is approximately 7 fold of endogenous levels assessed in the original article they were generated ( same construct is indicated as greater than 3 fold Mecp2 protein in PMID 22231481) .
Allele Type: Transgenic
Strain of Origin: FVB/N
Genetic Background: FVB/N x 129S6/SvEv
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: PMID 22231481
Model Type:
Genetic
Model Genotype:
Transgenic
Mutation:
Mouse strain carrying human MECP2 transgene on a hybrid background (C57Bl/6 * 129S6/SvEv), the trangene expression is approximately 7 fold of endogenous levels of endogenous levels assessed in the original article they were generated ( same construct is indicated as greater than 3 fold Mecp2 protein in PMID 22231481) .
Allele Type: Transgenic
Strain of Origin: FVB/N
Genetic Background: C57Bl/6 x 129S6/SvEv
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: PMID 22231481
Model Type:
Multifactorial
Model Genotype:
Heterozygous
Mutation:
Gene targeting to introduce a premature stop codon after codon 308 to produce truncated MeCP2 protein followed by oral administration of 0.03 mg BDE-47/kg/day for 10 weeks from preconception to lactation.
Allele Type: LOF knockin
Strain of Origin: Not Specified
Genetic Background: C57BL/6
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified
Model Type:
Genetic
Model Genotype:
Hemizygous
Mutation:
Gene targeting to introduce a premature stop codon after codon 308 to produce truncated MeCP2 protein.
Allele Type: LOF knockin
Strain of Origin: Not Specified
Genetic Background: C57BL/6
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified
Model Type:
Genetic
Model Genotype:
Heterozygous
Mutation:
Gene targeting to introduce a premature stop codon after codon 308 to produce truncated MeCP2 protein.
Allele Type: LOF knockin
Strain of Origin: Not Specified
Genetic Background: C57BL/6
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Targeted Mecp2 expression in postmitotic neurons by placing it under the control of microtubulue-binding protein Tau.
Allele Type: Overexpression
Strain of Origin: Not specified
Genetic Background: Not specified
ES Cell Line: Not specified
Mutant ES Cell Line: Not specified
Model Source: Not specified
Model Type:
Genetic
Model Genotype:
Heterozygous
Mutation:
Targeted Cre-loxP mediated deletion of exons 3 and 4 of Mecp2 gene.
Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: FVB/N X 129S6/SvEv
ES Cell Line: Not specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified
Model Type:
Genetic
Model Genotype:
Heterozygous
Mutation:
Targeted Cre-loxP mediated deletion of exons 3 and 4 of Mecp2 gene.
Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: 129S6/SvEv x C57BL/6
ES Cell Line: Not specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified
Model Type:
Genetic
Model Genotype:
Heterozygous
Mutation:
Targeting construct deletion of exon 3, which encodes most of the methyl-CpG-binding domain using the cre-loxP recombination system.
Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: C57BL/6
ES Cell Line: Not specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified
Model Type:
Genetic
Model Genotype:
Hemizygous
Mutation:
Conditional deletion of exon 3- 4 of Mecp2 in male mice using Pvalb-Cre, in parvalbumin expressing interneurons . Note that phenotypes of these mice are annotated in comparison to the homozygous floxed Mecp2 mice which express a truncated form of the protein
Allele Type: Conditional loss-of-function
Strain of Origin: C57Bl/6 * B6C3H
Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Hemizygous
Mutation:
Conditional deletion of exon 3-4 of Mecp2 in male mice using SOM-Cre, in somatostatin expressing interneurons. Note that phenotypes of these mice are annotated in comparison to the homozygous floxed Mecp2 mice which express a truncated form of the protein
Allele Type: Conditional loss-of-function
Strain of Origin: C57Bl/6*129
Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Hemizygous
Mutation:
The point mutation R306C found in 5% of Rhett syndrome patients, was introduced in a Mecp2-EGFP targeting vector containing exon3 and part of exon4 followed by a loxP flanked neoSTOP cassette as a selectable marker; linearized vector was electroporated into 129/OlaE14 TG2a ES cells and chimeric mice generated by standard procedures. The loxP flanked neo cassette was removed by crossing to pCAGGS-cre mice, In the article by Orefice et al it is unclear if the EGFP tagged or tag-removed Mecp2 R306C mice were used.
Allele Type: LOF knockin
Strain of Origin: 129 Ola
Genetic Background: C57BL/6
ES Cell Line: 129/Ola E14 TG2a
Mutant ES Cell Line: Model Source: PMID 23770565
Model Type:
Genetic
Model Genotype:
Hemizygous
Mutation:
Mecp2 STOP mice allow for reversible inactivation of the Mecp2 gene, these were generated by using a targeting vector with a 3.1 kb DNA fragment containing a loxP -flanked neoSTOP cassette composed of 550 bp of 3' seq S cerevisiae HIs3 gene, SV40 poly A sequence and a synthetic sequence containing a false translation initiation codon and a consensus splice donor sequence. These mice have no detectable protein detectable by western blot.
Allele Type: LOF knockin
Strain of Origin: Genetic Background: 129/SvEv * C57BL/6J
ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Hemizygous
Mutation:
Conditional deletion of exon 3- 4 of the Mecp2 gene in male, mice using Emx1 Cre, in the neurons and glia of the neocortex, hippocampus and pallium starting E10.5
Allele Type: Conditional loss-of-function
Strain of Origin: Genetic Background: 129/SvEv * C57BL/6J
ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Hemizygous
Mutation:
Conditional deletion of exon 3- 4 of the Mecp2 gene in male mice, using Advillin-creERT2, in dorsal root ganglion and trigeminal somatosensory neurons (primary somatosensory neurons) after administration of tamoxifen to male mice for 5 days starting at P28. Authors state that Mecp2 protein is deleted from 90% of DRG neurons whereas expression in the spinal cord and brain remain normal.
Allele Type: Conditional loss-of-function
Strain of Origin: Genetic Background: 129/SvEv * C57BL/6J
ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Heterozygous
Mutation:
Conditional heterozygous deletion of exon 3- 4 of the Mecp2 gene in female mice, using Advillin-creERT2, in dorsal root ganglion and trigeminal somatosensory neurons (primary somatosensory neurons) after administration of tamoxifen to female mice for 5 days starting at P28. Authors state that Mecp2 protein is deleted from 90% of DRG neurons whereas expression in the spinal cord and brain remain normal.
Allele Type: Conditional loss-of-function
Strain of Origin: Genetic Background: 129/SvEv * C57BL/6J
ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Hemizygous
Mutation:
Conditional deletion of exon 3- 4 of the Mecp2 gene in male mice, using Cdx-cre, in all cells caudal to cervical level 2 leading to loss of Mecp2 protein from the DRG and spinal cord
Allele Type: Conditional loss-of-function
Strain of Origin: Genetic Background: 129/SvEv * C57BL/6J
ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Hemizygous
Mutation:
Conditional deletion of exon 3- 4 of the Mecp2 gene in male mice, using Advillin-cre, in dorsal root ganglion and trigeminal somatosensory neurons, while Mecp2 expression is preserved in the spinal cord (males)
Allele Type: Conditional loss-of-function
Strain of Origin: Genetic Background: 129/SvEv * C57BL/6J
ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Heterozygous
Mutation:
Conditional heterozygous deletion of exon 3- 4 of the Mecp2 gene using Advillin-cre, in dorsal root ganglion and trigeminal somatosensory neurons, while Mecp2 expression is preserved in the spinal cord (females)
Allele Type: Conditional loss-of-function
Strain of Origin: Genetic Background: 129/SvEv * C57BL/6J
ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Hemizygous
Mutation:
Deletion of N terminal of Mecp2 (dN) knockin mice were produced by replacing the endogenous Mecp2 allele in embryonic stem cells, which were used to produce germline-transmitting chimaeras. Knockin mice were crossed onto a C57BL/6J background for four generations.
Allele Type: LOF Knockin
Strain of Origin: Genetic Background: C57BL/6J
ES Cell Line: 129/Ola E14 TG2a
Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Hemizygous
Mutation:
Deletion of N and C terminals of Mecp2 (dNC) knockin mice were produced by replacing the endogenous Mecp2 allele in embryonic stem cells, which were used to produce germline-transmitting chimaeras. Knockin mice were crossed onto a C57BL/6J background for four generations.
Allele Type: LOF Knockin
Strain of Origin: Genetic Background: C57BL/6J
ES Cell Line: 129/Ola E14 TG2a
Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Hemizygous
Mutation:
Deletion of N and C terminals and intermediate region of Mecp2 (dNIC) knockin mice were produced by replacing the endogenous Mecp2 allele in embryonic stem cells, which were used to produce germline-transmitting chimaeras. Knockin mice were crossed onto a C57BL/6J background for four generations.
Allele Type: LOF Knockin
Strain of Origin: Genetic Background: C57BL/6J
ES Cell Line: 129/Ola E14 TG2a
Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Hemizygous
Mutation:
Knockin mutant with R133C mutation.
Allele Type: LOF Knockin
Strain of Origin: Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Mecp2 dNIC STOP knockin mice are functionally knockouts due to the insertion of a floxed transcriptional STOP cassette in intron 2 of the Mecp2 dNIC gene.
Allele Type: Knockout
Strain of Origin: Genetic Background: C57BL/6J
ES Cell Line: 129/Ola E14 TG2a
Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Wildtype
Mutation:
Seven-week-old wildtype C57BL/6 male mice were injected with MeCP2-siRNA (1385135, NM_010788.2), bilaterally in the dorsal striatum using a stereotaxic apparatus, resulting in a reduction of Mecp2 transcript levels to about 0.3 fold compared with control siRNA injected mice.
Allele Type: Knockdown
Strain of Origin: C57Bl/6
Genetic Background: C57Bl/6
ES Cell Line: Mutant ES Cell Line: Model Source: Daehan BioLink (Eumsung, Chungbuk, Republic of Korea)
Model Type:
Genetic
Model Genotype:
Heterozygous
Mutation:
Heterozygous mutant female mice with sensory neuron specific deletion of Mecp2 were generated by crossing Mecp2 floxed mice with loxp sites flanking exons 3 to 4 with Advillin-Cre driver mice (Advillin-Cre; Mecp2f/+); M_MECP2_5.15_CKO_HT
Allele Type: Conditional knockout
Strain of Origin: Not specified
Genetic Background: C57BL/6J*129/SvEv*CD1
ES Cell Line: Mutant ES Cell Line: Model Source: Jackson Laboratory; RRID:IMSR_JAX:006847; Fan Wang; RRID:IMSR_JAX:032536
Model Type:
Genetic
Model Genotype:
Hemizygous
Mutation:
Hemizygous mutant male mice with sensory neuron specific deletion of Mecp2 were generated by crossing Mecp2 floxed mice with loxp sites flanking exons 3 to 4 with Advillin-Cre driver mice (Advillin-Cre; Mecp2f/y); M_MECP2_5.15_CKO_HE
Allele Type: Conditional knockout
Strain of Origin: Not specified
Genetic Background: C57BL/6J*129/SvEv*CD1
ES Cell Line: Mutant ES Cell Line: Model Source: Jackson Laboratory; RRID:IMSR_JAX:006847; Fan Wang; RRID:IMSR_JAX:032536
Model Type:
Genetic
Model Genotype:
Hemizygous
Mutation:
Mecp2^STOP/y mice possess a loxP-flanked STOP cassette in intron 2 of the Mecp2 gene on the X chromosome resulting in the absence of wildtype protein; M_MECP2_40_KI_HE_STOP
Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: C57BL/6J*129/SvEv*CD1
ES Cell Line: Mutant ES Cell Line: Model Source: Jackson Laboratory; RRID:IMSR_JAX:006849
Model Type:
Genetic
Model Genotype:
Hemizygous
Mutation:
Hemizygous mutant male mice with sensory neuron specific inducible deletion of Mecp2 (Advillin-CreERT2; Mecp2^f/y) in the early postnatal period (P5) were generated by crossing Mecp2 floxed mice with loxp sites flanking exons 3 to 4 with transgenic Advillin-CreERT2 driver mice that expresse a tamoxifen-inducible iCre recombinase directed by endogenous Avil (advillin) promoter elements in the dorsal root ganglia and sensory neurons; M_MECP2_5.13_CKO_HE
Allele Type: Conditional knockout
Strain of Origin: Not specified
Genetic Background: C57BL/6J*129/SvEv*CD1
ES Cell Line: Mutant ES Cell Line: Model Source: Jackson Laboratory; John Wood; RRID:IMSR_JAX:032027 (Lau et al, 2011); RRID:IMSR_JAX:006847
Model Type:
Genetic
Model Genotype:
Hemizygous
Mutation:
Hemizygous mutant male mice with sensory neuron specific inducible deletion of Mecp2 (Advillin-CreERT2; Mecp2^f/y) in the early postnatal period (P10) were generated by crossing Mecp2 floxed mice with loxp sites flanking exons 3 to 4 with transgenic Advillin-CreERT2 driver mice that expresse a tamoxifen-inducible iCre recombinase directed by endogenous Avil (advillin) promoter elements in the dorsal root ganglia and sensory neurons; M_MECP2_5.13_CKO_HE
Allele Type: Conditional knockout
Strain of Origin: Not specified
Genetic Background: C57BL/6J*129/SvEv*CD1
ES Cell Line: Mutant ES Cell Line: Model Source: Jackson Laboratory; John Wood; RRID:IMSR_JAX:032027 (Lau et al, 2011); RRID:IMSR_JAX:006847
Model Type:
Genetic
Model Genotype:
Hemizygous
Mutation:
Hemizygous mutant male mice with sensory neuron specific inducible deletion of Mecp2 (Advillin-CreERT2; Mecp2^f/y) in the early postnatal period (P28) were generated by crossing Mecp2 floxed mice with loxp sites flanking exons 3 to 4 with transgenic Advillin-CreERT2 driver mice that expresse a tamoxifen-inducible iCre recombinase directed by endogenous Avil (advillin) promoter elements in the dorsal root ganglia and sensory neurons; M_MECP2_5.13_CKO_HE
Allele Type: Conditional knockout
Strain of Origin: Not specified
Genetic Background: C57BL/6J*129/SvEv*CD1
ES Cell Line: Mutant ES Cell Line: Model Source: Jackson Laboratory; John Wood; RRID:IMSR_JAX:032027 (Lau et al, 2011); RRID:IMSR_JAX:006847
Model Type:
Genetic
Model Genotype:
Hemizygous
Mutation:
Male knockin mice harboring an arginine-to-cysteine missense R306 mutation in Mecp2 (Mecp2^R306C), a common allele in Rett syndrome patients. These mutants were used because Mecp2^R306C mutant mice live longer than Mecp2 null allele, allowing a full two-week behavioral assessment at six to eight weeks of age prior to the development of severe breathing abnormalities. As controls for the Gabrb3 rescue experiments these mice were injected with AAV.FLEx.GABRB3.mCHERRY at P5 but the lack of Cre prevented Gabrb3 expression; M_MECP2_39_KI_HE_R306C
Allele Type: ASD LOF knockin
Strain of Origin: Not specified
Genetic Background: C57BL/6J
ES Cell Line: Mutant ES Cell Line: 129/Ola E14 TG2a mouse ES cells
Model Source: Michael Greenberg; Lyst et al., 2013; PMID 23770565
Model Type:
Genetic
Model Genotype:
Heterozygous
Mutation:
Female mice heterozygous for the Mecp2 mutation R306C. Controls were female Mecp2^R/R littermates. As controls for the Gabrb3 rescue experiments these mice were injected with AAV.FLEx.GABRB3.mCHERRY at P5 but the lack of Cre prevented Gabrb3 expression; M_MECP2_39_KI_HE_R306C
Allele Type: ASD LOF knockin
Strain of Origin: Not specified
Genetic Background: C57BL/6J
ES Cell Line: Mutant ES Cell Line: 129/Ola E14 TG2a mouse ES cells
Model Source: Michael Greenberg; Lyst et al., 2013; PMID 23770565
Model Type:
Genetic
Model Genotype:
Wildtype
Mutation:
Mice with locus-specific methylation at the transcription start site of Mecp2 in the hippocampus were generated by injecting AAV-based methylation vectors (AAV-DNMT3A-N-dCas9, AAV-AAV-C-dCas9, AAV-5U6-sgRNAs-EGFP) bilaterally into the hippocampus of adult mice. Behavioral tests were performed 4 weeks after injection.
Allele Type: Loss of function
Strain of Origin: C57BL/6
Genetic Background: C57BL/6
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: PMID 32015323
Model Type:
Genetic
Model Genotype:
Wildtype
Mutation:
Mice with locus-specific methylation at the transcription start site of Mecp2 were generated using nuclease-deactivated Cas9 (dCas9) fused with DNA methyltransferase catalytic domains. DNMT3L-DNMT3A-dCas9 or DNMT3LDNMT3A-mut- dCas9 plasmids were injected into zygotes from superovulated female C57BL/6 mice. (PME, promoter methylation).
Allele Type: Loss of function
Strain of Origin: C57BL/6
Genetic Background: C57BL/6
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: PMID 32015323
Model Type:
Genetic GOF
Model Genotype:
Transgenic
Mutation:
A full-length copy of the human gene was injected into fvb fertilized oocytes and 2-fold higher levels of protein compared to endogenous mecp2 was established. fvb-background mecp2-duplication (tg1) mice (collins et al., 2004), were crossed to c57 thy1-gfp-m homozygotes (jackson laboratory) to generate f1c57;fvb mecp2-duplication;thy1-gfpm mice and thy1-gfp-m littermate controls. [note: construct is adapted from existing m_mecp2_34_tg_2x but has a mixed background and reporter]. for motor cortex assessment animals were trained for four consecutive trials daily for four days in a row.
Allele Type: Transgenic
Strain of Origin: FVB
Genetic Background: F1C57*FVB
ES Cell Line: FVB
Mutant ES Cell Line: FVB
Model Source: 15351775, Collins et al, 2004
Description: Abnormal developmental trajectory: irregular breathing, uneven wearing of the teeth, misaligned jaws, and internalized testes of males
Exp Paradigm: General observations
Description: Decreased number of th positive neurons in the locus coerulues (lc)
Exp Paradigm: Immunostaining analysis of the lc using both antibodies for th and mecp1
Description: Decreased ascending excitatory input at the l3/5a pyramidal neuron zone
Exp Paradigm: Patch clamp recording of the l3/5a pyramidal neuron the area around which is photostimulated by focal glutamate uncaging
Description: There is decreased local excitatory input to l2/3 pyramidal neurons
Exp Paradigm: Loose-seal recordings from synapse l2/3 of pyramidal neurons
Description: Decreased intensity of excitation profile of l3/5a pyramidal neurons
Exp Paradigm: Loose-seal recordings from synapse l3/5a of pyramidal neurons
Description: Mecp2 hemizygous pups show greater displacement magnitude, measured by optical flow point, in response to air puff stimuli.
Exp Paradigm: optical flow point tracking to measure reactivity to single presentations of 0.10-, 0.25-, 0.50- and 0.75-psi air puff stimuli
Description: Mecp2 hemizygous mice exhibit enhanced sensitivity to back hairy skin stimulation, as measured by tactile prepulse inhibition (PPI) of an acoustic startle response.
Exp Paradigm: 0.9-psi air puff preceded 120 dB acoustic startle pulse,delivered at variable interstimulus intervals
Description: Mecp2 kos have enhanced response even in acoustic prepulse inhibition compared to controls and unlike shank3 het and fmr1 hemizygous mice tested by orefice et al
Exp Paradigm: NA
Description: Mecp2 ko mice show significantly increased area of activation in the insular cortex, in response to auditory cues, similar to btbr mice
Exp Paradigm: NA
Measurement of area of activation (roi) in the insular cortex
Multisensory integration: sensory neurons of insular cortex: auditory-tactile4
Decreased
Description: Mecp2 ko mice show significantly reduced multisensory integration in the insular cortex
Exp Paradigm: Degree of integration was determined by dividing the response amplitude upon combined stimulation by the sum of unisensory responses
Description: Mecp2 kos have reduced glabrous skin tactile discrimination and memory for objects differing in texture (rough or smooth) and do not preferentially interact with a novel textured-object over a familiar one
Exp Paradigm: NA
Description: Tactile prepulse inhibition responses are enhanced in mecp2 ko mice, as opposed to control littermates that display reduced magnitude of acoustic startle response when they receive an air puff prepulse
Exp Paradigm: NA
Description: Abnormal developmental trajectory: irregular breathing, uneven wearing of the teeth, misaligned jaws, and internalized testes of males
Exp Paradigm: General observations
Description: Mecp2 kos have reduced time spent in the center of of and reduced preference for the open arms in the elevated plus maze test indicating increased anxiety
Exp Paradigm: Open field test
Description: Mecp2 kos have reduced habituation (eventual decrease in startle amplitude in response to series of trials) to acoustic startle
Exp Paradigm: NA
Description: Mecp2 kos have reduced time spent in the center of of and reduced preference for the open arms in the elevated plus maze test indicating increased anxiety
Exp Paradigm: Elevated plus maze test
Description: Mecp2 hemizygous pups show greater displacement magnitude, measured by optical flow point, in response to repeated air puff stimuli. A smaller number of pups show habituation to repeated stimuli.
Exp Paradigm: optical flow point tracking to measure reactivity to ten presentations of a 1.0-psi stimulus at 20- to 30-s intervals
Description: Mecp2 ko mice have reduced preference for novel object when the retention period (or interval) is extended to 1 hr from 5 min, whereas wt mice still prefer the novel object
Exp Paradigm: NA
Description: Mecp2 ko mice have reduced object recognition memory and novelty-seeking behavior even when objects differ in shape or color
Exp Paradigm: NA
Description: Mecp2 hemizygous pups do not show expression of Mecp2 protein in dorsal root ganglia neurons, whereas wildtype mice do.
Exp Paradigm: NeuN, Mecp2
Description: Increased hindlimb clasping as observed at as early as 16 weeks old mice (100% hindlimb clasping by 35 weeks old)
Exp Paradigm: General observations in separate cage
Neuronal activation following behavioral stimulation5
Decreased
Description: Decreased fos positive neurons
Exp Paradigm: used cFos-targeted recombination in active populations (Fos-TRAP) to label task-specific neurons activated during water-maze
Event related potential (erp) in electroencephalography (eeg)4
Abnormal
Description: Abnormal auditory erp frequency analysis indicated by increase in induced gamma power around 45 hz, increase in beta-band activity, no change in theta and delta-band component
Exp Paradigm: Spectral decomposition of auditory-evoked response waveforms
Spontaneous post synaptic event frequency: excitatory currents5
Decreased
Description: Presymptomatic training improved the frequencies of sipscs and sepscs of mecp2 negative neurons in rett mice (fig. 4f, h), but not the amplitudes (fig. 4g, i).
Event related potential (erp) in electroencephalography (eeg)4
Abnormal
Description: Abnormal visual erp indicated by increased n1 component in response to visual stimuli; no change in p2 wave latency
Exp Paradigm: Eeg recordings after delivery of visual stimuli
Spontaneous post synaptic event amplitude: inhibitory currents5
Decreased
Description: Presymptomatic training improved the frequencies of sipscs and sepscs of mecp2 negative neurons in rett mice (fig. 4f, h), but not the amplitudes (fig. 4g, i).
Event related potential (erp) in electroencephalography (eeg)4
Abnormal
Description: Abnormal middle and late components indicated by larger n1 component, no change in p2 amplitude but delayed latency
Exp Paradigm: Eeg recordings after delivery of auditory stimuli
Spontaneous post synaptic event amplitude: excitatory currents5
Decreased
Description: Presymptomatic training improved the frequencies of sipscs and sepscs of mecp2 negative neurons in rett mice (fig. 4f, h), but not the amplitudes (fig. 4g, i).
Event related potential (erp) in electroencephalography (eeg)4
Abnormal
Description: Abnormal auditory erp frequency analysis indicated by increased phase locking in gamma range
Exp Paradigm: Spectral decomposition of auditory-evoked response waveforms
Spontaneous post synaptic event frequency: inhibitory currents5
Decreased
Description: Presymptomatic training improved the frequencies of sipscs and sepscs of mecp2 negative neurons in rett mice (fig. 4f, h), but not the amplitudes (fig. 4g, i).
Description: Abnormal bdnf protein quantification demonstrated by no change in concentration in cortex; decreased levels in striatum
Exp Paradigm: Quantification using elisa at site of translation and target site
Description: Decreased hap1 protein levels in hypothalamus, nucleus tractus solitarius, midbrain ventral area, locus coeruleus, and pons
Exp Paradigm: Hap1 protein levels
Description: Decreased levels of hap1a and hap1b isoforms in midbrain ventral area, reduced hap1a isoform in cortex, no hap1b isoform in cortex
Exp Paradigm: Hap1 protein levels
Description: Cell bodies and nuclei of hippocampus, cerebral cortex,but not cerebellum were of smaller size and more densely packed
Exp Paradigm: Histological analysis of sections utilizing thionine (neuronal) and dapi (nuclear) stain
Description: Emergence of abnormal behavior such as nervousness, body trembling, pila erection, hard respiration around 3 months
Exp Paradigm: General observations
Description: Cell bodies and nuclei of hippocampus, cerebral cortex, and cerebellum were of smaller size and more densely packed
Exp Paradigm: Histological analysis of sections utilizing thionine (neuronal) and dapi (nuclear) stain
Description: Emergence of abnormal behavior such as nervousness, body trembling, pila erection, hard respiration around 5 weeks
Exp Paradigm: General observations
Description: Cell bodies and nuclei of hippocampus, cerebral cortex, and cerebellum were of smaller size and more densely packed
Exp Paradigm: Histological analysis of sections utilizing thionine (neuronal) and dapi (nuclear) stain
Description: Emergence of abnormal behavior such as nervousness, body trembling, pila erection, hard respiration around 5 weeks
Exp Paradigm: General observations
Description: At 10 weeks and 20 weeks of age mecp2 tg (2x) mice has increased latency to fall off the accelerating rotarod compared to wildtype over 4 days of testing with 4 trials on each day, authors note that this may indicate enhanced cerebellar learning
Exp Paradigm: NA
Description: Increased clonic seizures are observed at 20 and 50 weeks of age for mecp2 tg (2x) mice , the seizures begin to manifest at 12-15 weeks
Exp Paradigm: NA
Description: The original human mecp2-overexpressing mice, mecp2-tg mice on a fvb/n pure background, develop premature retinal degeneration, which can confound the interpretation of some behavioural tests
Exp Paradigm: Ophthalmological evaluation;
Cued or contextual fear conditioning: memory of context1
Increased
Description: Mecp2 tg mice show increased freezing in response to context compared to wildtype controls, authors indicate enhanced hippocampal learning
Exp Paradigm: NA
Description: Mecp2 transgene shows increased expression equal to about 2 fold of the protein levels from wild type, this includes the human transgene and the endogenous protein
Exp Paradigm: NA
Description: Increased hindlimb clasping as observed at as early as 4 weeks old mice (100% hindlimb clasping by 8 weeks old)
Exp Paradigm: General observations in separate cage
Description: Decreased general locomotor activity as shown by progressive impairement in total distance moved and velocity
Exp Paradigm: Open field test
Description: Decreased neuronal size of pyramidal cells in layers ii/iii and v of the somatosensory and motor cortices
Exp Paradigm: Morphometric analysis with a dxm-1220f system of coronal sections
Description: Decreased cortical thickness in layers ii/iii of somatosensory cortex
Exp Paradigm: Morphometric analysis with a dxm-1220f system of coronal sections
Description: Increased neuronal density in layers ii/iii and v of the somatosensory and motor cortices
Exp Paradigm: Morphometric analysis with a dxm-1220f system of coronal sections
Event related potential (erp) in electroencephalography (eeg)2
Increased
Description: Increased latency of initial positive peak, negative peak and a subsequent second positive peak
Exp Paradigm: Eeg recordings following presentatino of a series of white noise clicks
Event related potential (erp) in electroencephalography (eeg)2
Abnormal
Description: Abnormal eeg recordings indicated by increased power of high-gamma frequency oscillations
Exp Paradigm: Eeg recordings in awake, freely mobile
Description: Decreased learning and memory indicated by decreased context-dependent and cue-dependent freezing
Exp Paradigm: Contextual and cued fear-conditioning procedure
Description: Decreased levels of anxiety demonstrated by increased time spent in open arms and center region
Exp Paradigm: Elevated plus maze test (male)
Description: Decreased fear conditioning and contextual association
Exp Paradigm: Cued and contextual fear task: freezing response to previously cued audible tone associated with foot shock (male)
Description: Increased action potential firing probability
Exp Paradigm: Epsc recordings in response to 20 hz stimulation of nts neurons in horizontal brain slices
Description: Increased amplitude and frequency of miniature epsc's
Exp Paradigm: Electrophysiological recordings of epsc evoked by stimulation of ts at 20 hz with ttx and bicuuciline application
Miniature post synaptic current amplitude: excitatory2
Abnormal
Description: Abnormal synaptic function demonstrated by increased ts-epsc amplitude
Exp Paradigm: Epsc recordings after stimulation of fibers of horizontal brain stem slices
Description: The mean respiratory frequency is very high in mecp2 null mice compared to wt controls , arising of repetitive episodes of very high breathing frequency. therefore the minute volume/ weight is increased in mecp2 null mcie
Exp Paradigm: Tidal volume/ weight and minute volume/weight (tidal volume/weight x breathing frequency) were estimated
Description: Mecp2 null mice have a disordered breathing pattern characterized by a highly variable frequency and occasional long breathing pauses compared to wt littermates.
Exp Paradigm: NA
Description: Mrna levels of brain derived neurotrophic factor (bdnf) containing exons 2, 4 or 5 are reduced in the neurons from the nodose cranial sensory ganglia (ngs) derived from mecp2 null mice
Exp Paradigm: Gene expression
Description: Decreased bndf staining in perikarya and fibers of dorsal motor nucleus of vagus nerve, nts, area postrema, nucleus ambiguus, medullary reticular nuclei
Exp Paradigm: Bdnf protein expression
Description: Bdnf levels in vehicle injected mecp2 null mice was significantly reduced in the nodose cranial sensory ganglia neurons , compared to vehicle injected wild type controls
Exp Paradigm: Protein expression
Description: Decreased excitatory input to neurons in l2/3 and l3/5a
Exp Paradigm: Glutamate uncaging and laser scanning photostimulation (lsps) of cortical slices and recording on neuron whose inputs are mapped
Description: Increased packing density in the frontal cortex, olfactory bulbs, dentate gyrus and regions ca1, ca2, ca3 of hippocampus; increased density of cell nuclei in a140v cerebellar granule layer
Exp Paradigm: Histological analysis using cresyl violet staining
Description: Decreased dendritic complexity of layer ii/iii pyramidal neurons of the somatosensory cortex
Exp Paradigm: Sholl analysis on z-stack images of golgi-cox stained layer ii-iii pyramidal neurons from the somatosensory cortex
Description: Increased prepulse inhibition at 78 and 82 db prepulses demonstrating dysfunction of sensorimotor gating
Exp Paradigm: Prepulse inhibtion of the startle response: acoustic stimulus
Description: Increased prepulse inhibition at 78 and 82 db prepulses demonstrating dysfunction of sensorimotor gating
Exp Paradigm: Prepulse inhibtion of the startle response: acoustic stimulus
Event related potential (erp) in electroencephalography (eeg)1
Abnormal
Description: Abnormal eeg recordings indicated by increased power of high-gamma frequency oscillations
Exp Paradigm: Eeg recordings in awake, freely mobile
Event related potential (erp) in electroencephalography (eeg)1
Increased
Description: Increased latency of initial positive peak, negative peak and a subsequent second positive peak
Exp Paradigm: Eeg recordings following presentatino of a series of white noise clicks
Event related potential (erp) in electroencephalography (eeg)1
Decreased
Description: Decreased reduction in event related power in low frequency gamma, theta, and alpha
Exp Paradigm: Time frequency analysis on eeg recordings
Description: Decreased learning and memory indicated by decreased context-dependent and cue-dependent freezing
Exp Paradigm: Contextual and cued fear-conditioning procedure
Description: Decreased affinity of mecp2 to methylated dna indicated by more readily extraction under low salt conditions
Exp Paradigm: Mecp2 affinity to methylated dna
Description: Decreased interaction with hdac1 and sin3a
Exp Paradigm: Mecp2 immunoreactivity- western blot: anti-mecp2 antibody/anti-hdac1 or anti-sin3a antibody
Description: Abnormally diffuse mecp2 immunoreactivity throughout nucleus with clear absence of co-localization with dna
Exp Paradigm: Mecp2 immunoreactivity
Description: Abnormally diffuse mecp2 immunoreactivity throughout nucleus with clear absence of co-localization with dna
Exp Paradigm: Mecp2 immunoreactivity
Description: Decreased lifespan is refractoryto the treatment (31% decrease in mean life expectancy of mecp2/y mice)
Exp Paradigm: General observations
Description: Decreased lifespan is seen in cortisone treated male mecp2 hemizygotes, 26% decrease in mean life expectancy of mecp2-/y mice
Exp Paradigm: General observations
Description: Abnormal hindlimb clasping is displayed significantly earlier after treatment with cortisone
Exp Paradigm: General observations in separate cage
Description: Increased expression of genes fkbp5 and sgk1 in brain is refractoryto the treatment (higher than one without the treatment)
Exp Paradigm: Fkbp5 and sgk1 gene expression
Description: Abnormal hindlimb clasping is refractoryto the treatment (significantly earlier onset than one without treatment)
Exp Paradigm: General observations in separate cage
Description: Mecp2 homozygous null mice show decreased gait score compared to previously published controls.
Exp Paradigm: Walking gait was assessed using an observational scoring system while mice walked on a flat table top. a score of 0 indicated normal gait, 1 indicated hind legs spread wider than normal when ambulating, 2 indicated severe abnormality either with tremor when feet were lifted or with backwards walking by lifting both rear feet simultaneously.
Description: Mecp2 homozygous null mice show reduced number of beam breaks compared to previously published controls.
Exp Paradigm: Locomotor activity was determined for 8 hours during the active nocturnal phase of mice.
Description: Abnormal dendritic cell morphology indicated by smaller cell body size and shorter dendritic lengths
Exp Paradigm: Sholl analysis of cell morphology in the dentate gyrus of the hippocampus
Description: Mecp2 homozygous null mice displayed reduced amount of total bdnf protein in the brainstem and striatum compared to controls. mecp2 homozygous null mice displayed reduced amount of mature bdnf in the brainstem, striatum and hippocampus compared to controls. mecp2 homozygous null mice displayed reduced amounts of pro-bdnf in the brainstem and striatum compared to controls.
Exp Paradigm: Total, mature and pro-bdnf protein levels was measured with recombinant mature bdnf as a standard.- western blot
Description: Mecp2 homozygous null mice show decreased high-frequency induced ltp in hippocampal slices compared to controls.
Exp Paradigm: An input stimulus intensity that induces 4060% of the maximum response was used for measuring long-term potentiation (ltp). after 20 minutes of stable baseline, ltp was induced by high frequency stimulation using an input stimulus intensity that produces the maximum response (hfs, 2 100 hz trains with 100 pulses with an inter- burst interval of 20 seconds).
Description: Mecp2 homozygous null mutants show decreased ppr compared to controls.
Exp Paradigm: An input stimulus intensity that induces 4060% of the maximum response was used for measuring paired-pulse ratios (ppr). ppr was measured by giving 2 pulses at decreasing interstimulus intervals (500, 400, 200, 100, 50, 30, 20 ms) and analyzed by dividing the fepsp slope of pulse 2 by pulse 1.
Description: Mecp2 homozygous null mice displayed reduced amount of total bdnf protein in the brainstem and striatum compared to controls. mecp2 homozygous null mice displayed reduced amount of mature bdnf in the brainstem, striatum and hippocampus compared to controls. mecp2 homozygous null mice displayed reduced amounts of pro-bdnf in the brainstem and striatum compared to controls.
Exp Paradigm: Total, mature and pro-bdnf protein levels was measured with recombinant mature bdnf as a standard.-elisa
Description: Mecp2 homozygous null mice show increased incidence of apnea compared to previously published controls.
Exp Paradigm: Apneas were defined as a pause in the breathing cycle lasting longer than 1.5 seconds.
Description: Abnormal breathing pattern as indicated by increased total duration of each breath and greater confidence interval and coefficient of variation
Exp Paradigm: Whole-body plesmythographic measurements
Description: Abnormal cued/contextual conditioning demonstrated by deficit in cued but not contextual fear conditioning
Exp Paradigm: Associative fear conditioning task
Description: Mecp2-tg animals are less interested in their familiar or novel partner mice in the partition test for social interaction and recognition; in the three-chamber test for social approach, mecp2-tg mice compared to wild-type littermates spend the same amount of time investigating a novel object but are less interested in a novel mouse;
Exp Paradigm: Partition test
Description: Mecp2-tg mice (f1 fvb/n * 129s6/svev) spend similar amount of time with novel and familiar mouse indicating impaired memory
Exp Paradigm: NA
Description: Mecp2-tg mice compared to respective wild-type littermate animals spend less time in the open arms of an elevated plus maze and spend less time in the lit compartment of the light-dark box;
Exp Paradigm: Light-dark exploration test; males only tested;- elevated plus maze test
Description: Mecp2-tg, f1 hybrid background (fvb/n * 129+h1575:h1608s6/svev) mice display increased anxiety and spend less time in the open arms of elevated plus maze and in the lit compartment of the light-dark box compared to respective wild-type littermate animals
Exp Paradigm: Light-dark exploration test
Description: Mecp2-tg, f1 hybrid background (fvb/n * 129+h1575:h1608s6/svev) mice display increased anxiety and spend less time in the open arms of elevated plus maze and in the lit compartment of the light-dark box compared to respective wild-type littermate animals
Exp Paradigm: Elevated plus maze test
Description: Mecp2-tg mice compared to respective wild-type littermate animals spend less time in the open arms of an elevated plus maze and spend less time in the lit compartment of the light-dark box;
Exp Paradigm: Light-dark exploration test; males only tested;-light-dark exploration test
Description: Gene expression analysis of the amygdala identifies a subset of altered genes implicated in anxiety and/or social behavior in mecp2-tg mice compared to wildtype control littermates
Exp Paradigm: Quantitative pcr (qrt-pcr);
Description: Mecp2-tg mice, (f1 fvb/n * c57bl/6) spend similar amount of time with novel and familiar mouse indicating impaired memory
Exp Paradigm: NA
Description: Mecp2-tg mice, (f1 fvb/n * c57bl/6) spend less time at the partitition with a stimulus mouse spend less time at the partitition compared to controls
Exp Paradigm: NA
Description: Mecp2-tg mice, (f1 fvb/n * c57bl/6), display increased anxiety and spend less time in the open arms of elevated plus maze and in the lit compartment of the light-dark box compared to respective wild-type littermate animals
Exp Paradigm: Elevated plus maze test
Description: Mecp2-tg mice, (f1 fvb/n * c57bl/6), display increased anxiety and spend less time in the open arms of elevated plus maze and in the lit compartment of the light-dark box compared to respective wild-type littermate animals
Exp Paradigm: Light-dark exploration test
Description: Mecp2-tg mice (f1 fvb/n * 129s6/svev), with more than 3 fold increase in mecp2 protein levels, show significantly reduced activity in open field
Exp Paradigm: NA
Description: Mecp2-tg mice (f1 fvb/n * 129s6/svev) spend similar amount of time with novel and familiar mouse indicating impaired memory
Exp Paradigm: NA
Description: Mecp2-tg mice (f1 fvb/n * 129s6/svev) display increased anxiety and spend less time in the open arms of elevated plus maze and in the lit compartment of the light-dark box compared to respective wild-type littermate animals
Exp Paradigm: Elevated plus maze test
Description: Mecp2-tg mice (f1 fvb/n * 129s6/svev) display increased anxiety and spend less time in the open arms of elevated plus maze and in the lit compartment of the light-dark box compared to respective wild-type littermate animals
Exp Paradigm: Light-dark exploration test
Description: Mecp2-tg mice, (f1 fvb/n * c57bl/6) with more than 3 fold increase in mecp2 protein levels, show significantly reduced activity in open field
Exp Paradigm: NA
Description: Mecp2-tg mice, (f1 fvb/n * c57bl/6) spend similar amount of time with novel and familiar mouse indicating impaired memory
Exp Paradigm: NA
Description: Mecp2-tg mice, (f1 fvb/n * c57bl/6), display increased anxiety and spend less time in the open arms of elevated plus maze and in the lit compartment of the light-dark box compared to respective wild-type littermate animals
Exp Paradigm: Elevated plus maze test
Description: Mecp2-tg mice, (f1 fvb/n * c57bl/6), display increased anxiety and spend less time in the open arms of elevated plus maze and in the lit compartment of the light-dark box compared to respective wild-type littermate animals
Exp Paradigm: Light-dark exploration test
Description: Decreased spatial reference memory as measured by increased latency to reach platform is a side effect of bde-47 treatment in female heterzygots
Exp Paradigm: Female mice: morris water maze task
Description: Increased transcript levels of dna methyltransferase family of genes (dnmt1 and dnmt3a) are side effects of bde-47 treatment in female heterozygots
Exp Paradigm: Dna methyltransferase gene levels
Description: Decreased dna methylation levels during global assessment is a side effec of bde-47 treatment in female heterzygots
Exp Paradigm: Dna methylation levels
Description: Decreased muscle coordination
Exp Paradigm: Modified rota-rod test for motor performance and coordination through elimination of grips from rod
Description: Small but significant impairment in muscle coordination
Exp Paradigm: Modified rota-rod test for motor performance and coordination through eliminatino of grips from rod
Description: Decreased muscle coordination exhibited by mice rapidly losing balance and falling off dowel.
Exp Paradigm: Motor coordination measured by ability of mice to remain on a horizontal dowel for 120 s
Description: Behavioral arrest followed by a series of repetitive, generalized myoclonic jerks coupled with high-amplitude bilateral cortical spikes and wave eeg discharge
Exp Paradigm: Electroencephalographic analysis (eeg) and video recordings
Description: Elevated levels in cerebellum, cerebral cortex, spleen with higher degree of alteration in cortex over cerebellum in the brain. unaltered in liver.
Exp Paradigm: Acetylation of histone h3
Description: Response amplitude is reduced in mecp2 308t mice, even though there is no deficit in learning conditioned response
Exp Paradigm: Males only
Description: Decreased synaptic plasticity demonstrated by attenuated hfs-induced ltp in hippocampal slices
Exp Paradigm: Fepsp recordings of hippocampal slices of the schaffer-collateral pathway using hfs
Description: Increased anxiety demonstrated by less time spent in center, more time in closed arms, and less time in open arms
Exp Paradigm: Elevated plus maze test
Description: Decreased associative learning demonstrated by impaired extinction of freezing behavior to cue
Exp Paradigm: Cue conditioning training during extinction training
Description: Decreased novel object recognition memory demonstratedy by significantly less time spend with object
Exp Paradigm: Novel object recognition test
Description: Increased cued conditioning anamolies demonstrated by increased freezing response in both context and cue fear conditioning
Exp Paradigm: Cued/contextual fear-conditioning paradigm
Description: Increased expression of mecp2 protein in caudate-putamen, frontal cortex, hippocampus, and cerebellum
Exp Paradigm: Mecp2 protein expression
Description: Decreased locomotor activity indicated by less distance traveled and reduced horizontal and vertical activity
Exp Paradigm: Open field test
Description: Decreased pain sensitivity to conductive heat stimulus indicated by increase in latency to respond when placed on a heted metal surface
Exp Paradigm: Female mice: hot plate test
Description: Decreased startle response: acoustic stimulus response to 70-102 db, 102 to 118 db, and max 120 db audio stimulus
Exp Paradigm: Sensorimotor gating response to series of sounds from 70 to 118 db
Description: Abnormal respiratory function indicative of breathing abnormalities through number of apneas per 1000 breaths
Exp Paradigm: Number of apneas and respiratory rate
Description: Decreased anxiety indicated by more time in open arms along with more open arm entries and more distance traveled
Exp Paradigm: Elevated plus maze test
Cued or contextual fear conditioning: passive avoidance1
Decreased
Description: Decreased passive avoidance learning indicated by decreased latency to enter dark compartment and fewer animals associating shock with dark compartment
Exp Paradigm: Passive avoidance task
Description: Decreased locomotor activity indicated by less distance traveled and reduced horizontal and vertical activity
Exp Paradigm: Open field test
Description: Decreased pain sensitivity to conductive heat stimulus indicated by increase in latency to respond when placed on a heted metal surface
Exp Paradigm: Female mice: hot plate test
Description: Decreased startle response: acoustic stimulus response to 102-118 db & max 120 db audio stimulus
Exp Paradigm: Sensorimotor gating response to series of sounds from 70 to 118 db
Description: Decreased social approach indicated by less time spent investigating novel mouse and novel object
Exp Paradigm: Three chambered assay for sociability
Description: Decreased social approach indicated by equal amount of time investigating either a novel mouse or a novel object
Exp Paradigm: Three chambered assay for sociability
Description: Abnormal respiratory function indicative of breathing abnormalities through number of apneas per 1000 breaths
Exp Paradigm: Number of apneas and respiratory rate
Description: Decreased anxiety indicated by more time spent in lit compartment along with more transitions to lit compartment
Exp Paradigm: Light/dark box assay
Description: Decreased anxiety indicated by more time in open arms along with more open arm entries and more distance traveled
Exp Paradigm: Elevated plus maze test
Cued or contextual fear conditioning: passive avoidance1
Decreased
Description: Decreased passive avoidance learning indicated by decreased latency to enter dark compartment and fewer animals associating shock with dark compartment
Exp Paradigm: Passive avoidance task
Description: Mecp2 pvn ko mice have reduced motor coordination and balance as the latency to fall from the accelerating rotarod and dowel walk assay, authors also attribute reduced marble burying to reduced coordination in forelimbs
Exp Paradigm: Marble-burying test
Description: Mecp2-pvn ko mice have increased ataxia measured as shorter latency to fall of the accelerating rotarod and in the dowel walk test, the ataxia worsens with age and by 10 weeks the mutants also have splayed hindlegs determined by footprint analysis
Exp Paradigm: Accelerating rotarod test
Description: Mecp2 pvn ko mice have reduced motor coordination and balance as the latency to fall from the accelerating rotarod and dowel walk assay, authors also attribute reduced marble burying to reduced coordination in forelimbs
Exp Paradigm: Dowel walk test
Description: Mecp2-pvn ko mice have increased ataxia measured as shorter latency to fall of the accelerating rotarod and in the dowel walk test, the ataxia worsens with age and by 10 weeks the mutants also have splayed hindlegs determined by footprint analysis
Exp Paradigm: Dowel walk test
Description: Mecp2-pvn ko mice have decreased number of marbles buried in the marble burying task, authors attribute that to reduced coordination in the forelimbs
Exp Paradigm: NA
Description: In the partition test mecp2-pvn ko mice show increased interaction with stranger conspecific mouse in the second phase, after habituation with a familiar mouse and prior to reintroduction of the familiar mouse
Exp Paradigm: The test is conducted in three phases: first is interaction with a familiar mouse housed in on the other side of a partition in home cage, second is interaction with a novel conspecific, age-matched mouse, third is reintroduction of the first familiar mouse
Cued or contextual fear conditioning: memory of cue1
Decreased
Description: Mecp2-pvn ko mice have significantly reduced memory of cue, assessed by differences in freezing response, in the fear conditioning paradigm compared to control floxed mecp2 mice that is significant at 15 weeks of age
Exp Paradigm: NA
Description: Mecp2- somn ko have increased epileptic seizures and tonic cloni seizures while handling, about 50% of them develop seizures starting at 12 weeks of age
Exp Paradigm: NA
Description: Mecp2 r306 mutants have reduced time spent in the center of of and reduced preference for the open arms in the elevated plus maze test indicating increased anxiety
Exp Paradigm: Open field test
Description: Mecp2 r306 mutants have reduced time spent in the center of of and reduced preference for the open arms in the elevated plus maze test indicating increased anxiety
Exp Paradigm: Elevated plus maze test
Description: Mecp2 r306 mutants have decreased recall of familiar objects when the novel object phase is conducted after a longer interval (1 hr)
Exp Paradigm: NA
Description: Mecp2 stop mouse spinal cords have reduced expression of gabrb3 in presynaptic puncta that are vglut +ve, observed in the spinal cord dorsal horn lamina iii
Exp Paradigm: NA
Description: Dorsal root potential (drp) (peak) amplitude is significantly less than controls in mecp2 stop mice indicating reduced gabaa mediated presynaptic inhibition of somatosensory input into the dorsal horn (which may cause hyperexcitability due to lack of reduction of response mediated by cns to repeated tactile stimulation)
Exp Paradigm: NA
Description: Mecp2 stop mice have reduced tactile discrimination (glabrous skin) and memory for objects differing in texture (rough or smooth) and do not preferentially interact with a novel textured-object over a familiar one
Exp Paradigm: NA
Description: Mecp2 stop mice have reduced dominant or aggressive behavior as in the tube test of dominance they have significantly fewer wins compared to controls
Exp Paradigm: NA
Description: Mecp2 stop mice show increased anxiety- like behavior in the open field (time spent in center) and elevated plus maze test (preference for open arms)
Exp Paradigm: Elevated plus maze test
Description: Mecp2 stop mice show increased anxiety- like behavior in the open field (time spent in center) and elevated plus maze test (preference for open arms)
Exp Paradigm: Open field test
Description: Mice with loss of mecp2 from primary somatosensory neurons in adulthood have decreased sensorimotor gating in prepulse inhibition with hairy skin tactile prepulse
Exp Paradigm: NA
Description: Mice with loss of mecp2 from primary somatosensory neurons in adulthood still leads to decreased glabrous skin tactile discrimination of objects differing only in texture
Exp Paradigm: NA
Description: Mice with loss of mecp2 from primary somatosensory neurons in adulthood have decreased preference for novel mouse over familiar mouse
Exp Paradigm: NA
Description: Mice with loss of mecp2 from primary somatosensory neurons in adulthood have increased number of wins compared to controls (and embryonic avl-cre mecp2 mice) in the tube test of dominance
Exp Paradigm: NA
Description: Mice with loss of mecp2 from primary somatosensory neurons in adulthood have decreased sensorimotor gating in prepulse inhibition with hairy skin tactile prepulse
Exp Paradigm: NA
Description: Mice with loss of mecp2 from primary somatosensory neurons in adulthood still leads to decreased glabrous skin tactile discrimination of objects differing only in texture
Exp Paradigm: NA
Description: Cdx-mecp2 cko have reduced balance and coordination and fall off the accelerating rotarod at a shorter latency compared to controls
Exp Paradigm: NA
Description: Cdx-mecp2 cko have decreased glabrous skin tactile discrimination and cannot differentiate between novel or familiar object differing in texture
Exp Paradigm: NA
Description: Cdx-mecp2 cko have decreased sensorimotor gating resulting in enhanced response in hairy skin tactile cue based prepulse inhibition compared to controls
Exp Paradigm: NA
Description: Avl-cre mecp2 spinal cords have reduced expression of gabrb3 in presynaptic puncta that are vglut +ve, observed in the spinal cord dorsal horn lamina iii
Exp Paradigm: Males only
Quantal post synaptic current frequency: excitatory1
Increased
Description: Psdcs have increased frequency of evoked qepscs in avl-cre mecp2 mice indicating changes in presynaptic release probability
Exp Paradigm: NA
Description: Avl-cre mecp2 mechanosensory afferents that synapse to postsynaptic dorsal column projection neurons may have enhanced probability of presynaptic release of neurotransmitter, indirectly measured using quantal epsc frequency and decay times of currents
Exp Paradigm: NA
Description: Avl-cre mecp2 have decreased dorsal root potential indicating decrease in activity dependent presynaptic inhibition (psi) in the dorsal root, authors indicate that loss of mecp2 from primary somatosensory neurons causes deficiency of gabaa receptors on somatosensory neurons terminals that are known to mediate psi (and psi is decreased) this in turn causes increase in sensitivity to light touch
Exp Paradigm: NA
Description: Avl-cre mecp2 have decreased glabrous skin tactile discrimination and cannot differentiate between novel or familiar object differing in texture
Exp Paradigm: NA
Description: Avl-cre mecp2 decreased sensorimotor gating resulting in enhanced response in hairy skin tactile cue based prepulse inhibition compared to controls
Exp Paradigm: NA
Description: Avl-cre mecp2 have reduced time spent in the center of the open field and reduced preference for open arms compared to controls indicating increase in anxiety
Exp Paradigm: Elevated plus maze test
Description: Avl-cre mecp2 have reduced time spent in the center of the open field and reduced preference for open arms compared to controls indicating increase in anxiety
Exp Paradigm: Open field test
Description: Avl-cre mecp2 have decreased glabrous skin tactile discrimination and cannot differentiate between novel or familiar object differing in texture
Exp Paradigm: NA
Description: Mecp2-dnc mutant mice showed an increase in time spent in the central region of the open field test compared to controls.
Exp Paradigm: NA
Description: Mecp2-dnc mutant mice showed increased expression of the truncated proteins in the brain and in neurons compared to controls.
Exp Paradigm: NA
Description: Mecp2-dnic mutant mice spent less time in the closed arms and more time in the center of the elevated plus maze compared to controls. however, mecp2-dnic mutant mice showed no difference in time spent in the open arms of the elevated plus maze compared to controls.
Exp Paradigm: NA
Description: Mecp2-dnic mutant mice showed a reduction in expression levels of the truncated protein in the brain (~50%) and in neurons (~40%) compared to controls.
Exp Paradigm: NA
Description: Mecp2-sirna injected mice show significant preference for a social stimulus over an empty cage but the time spent with a social stimulus is significantly less compared with controls.
Exp Paradigm: NA
Description: Mecp2-sirna injected mice show decrease in time spent with an unfamiliar object over a familiar object compared with controls.
Exp Paradigm: NA
Description: Mecp2-sirna injected mice show decrease in mecp2 transcript in the dorsal striatum, 2 days after injection.
Exp Paradigm: Striatal tissue was used for qrt pcr.
Description: Mutants exhibited hairy skin hypersensitivity, measured by an increase of tactile prepulse inhibition of an acoustic startle response assay.
Exp Paradigm: NA
Description: Mutants show lower percent decrease in startle response to a 125 db noise during a 30-minute tactile ppi session, when comparing the first five startle responses to the last five responses to a 125 db noise for mutant mice and their control littermates, indicating lack of habituation to an acoustic startle noise.
Exp Paradigm: NA
Description: Mutants show decrease in the levels of gabrb3 expression in low-threshold mechanoreceptor neuron (ltmr) central terminals at spinal cord dorsal horn lamina iii/iv in vglut1+ presynaptic terminals.
Exp Paradigm: Spinal cord
Description: Mutants show increase in number of parvalbumin positive interneurons in primary somatosensory cortex, but not primary visual cortex. mutants show decrease in number of parvalbumin positive interneurons in the basolateral amygdala.
Exp Paradigm: Primary somatosensory cortex, primary visual cortex
Morphology of the spinal cord: sensory and motor tracts1
Decreased
Description: Mutants show decrease in hcn1 expression at spinal cord dorsal horn lamina iii/iv in vglut1+ presynaptic terminals, in large but not small diameter drg cell bodies.
Exp Paradigm: Spinal cord
Spontaneous post synaptic event frequency: inhibitory currents1
Increased
Description: Mutants show increase in spontaneous inhibitory postsynaptic current (sipsc) frequency in layer 2/3 pyramidal neurons from acute primary somatosensory cortex slices resulting in a decrease in e/i ratio. mutants show no change in spontaneous inhibitory postsynaptic current (sipsc) frequency in the visual cortex.
Exp Paradigm: Primary somatosensory cortex, primary visual cortex
Description: Mutants exhibited hairy skin hypersensitivity, measured by an increase of tactile prepulse inhibition of an acoustic startle response assay.
Exp Paradigm: NA
Description: Mutants show lower percent decrease in startle response to a 125 db noise during a 30-minute tactile ppi session, when comparing the first five startle responses to the last five responses to a 125 db noise for mutant mice and their control littermates, indicating lack of habituation to an acoustic startle noise.
Exp Paradigm: NA
Description: Mutants show increase of parvalbumin positive interneurons in the primary somatosensory cortex and in the primary visual cortex but decrease in parvalbumin positive interneurons in the basolateral amygdala.
Exp Paradigm: Primary somatosensory cortex, primary visual cortex
Description: Mutants show decrease in amplitude of startle response to a 125 db startling noise but not to a 80db non-startling noise pulse.
Exp Paradigm: NA
Description: Mutants show increase in percent inhibition of the startle response to a 125 db noise pulse when the startle noise is preceded by an 80 db tone prepulse.
Exp Paradigm: NA
Description: Mutants show lower percent decrease in startle response to a 125 db noise during a 30-minute tactile ppi session, when comparing the first five startle responses to the last five responses to a 125 db noise for mutant mice and their control littermates, indicating lack of habituation to an acoustic startle noise.
Exp Paradigm: NA
Description: Mutants show no decrease in preference for an object with a novel shape after 1 hour retention but not after 5 min retention.
Exp Paradigm: NA
Description: Mutants show increase in number of parvalbumin positive interneurons in primary somatosensory cortex, but not primary visual cortex. mutants show decrease in number of parvalbumin positive interneurons in the basolateral amygdala.
Exp Paradigm: Primary somatosensory cortex, primary visual cortex, basolateral amygdala
Description: Mutants exhibited hairy skin hypersensitivity, measured by an increase of tactile prepulse inhibition of an acoustic startle response assay.
Exp Paradigm: NA
Description: Mutants show lower percent decrease in startle response to a 125 db noise during a 30-minute tactile ppi session, when comparing the first five startle responses to the last five responses to a 125 db noise for mutant mice and their control littermates, indicating lack of habituation to an acoustic startle noise.
Exp Paradigm: NA
Description: Mutants show decrease in number of parvalbumin positive interneurons in primary somatosensory cortex, but not primary visual cortex. mutants show increase in number of parvalbumin positive interneurons in the basolateral amygdala.
Exp Paradigm: Primary somatosensory cortex, primary visual cortex, basolateral amygdala
Description: Mutants exhibited hairy skin hypersensitivity, measured by an increase of tactile prepulse inhibition of an acoustic startle response assay.
Exp Paradigm: NA
Description: Mutants show lower percent decrease in startle response to a 125 db noise during a 30-minute tactile ppi session, when comparing the first five startle responses to the last five responses to a 125 db noise for mutant mice and their control littermates, indicating lack of habituation to an acoustic startle noise.
Exp Paradigm: NA
Description: Mutants show decrease in number of parvalbumin positive interneurons in primary somatosensory cortex, but not primary visual cortex or in the basolateral amygdala.
Exp Paradigm: Primary somatosensory cortex, primary visual cortex, basolateral amygdala
Description: Mutants exhibited hairy skin hypersensitivity, measured by an increase of tactile prepulse inhibition of an acoustic startle response assay.
Exp Paradigm: NA
Description: Mutants show increased parvalbumin positive neurons in the primary somatosensory cortex and in the visual cortex but not in the basolateral amygdala.
Exp Paradigm: NA
Description: Mutants show decrease in excitatory to inhibitory ratio in primary somatosensory cortex slices.
Exp Paradigm: Primary somatosensory cortex
Description: Mutants show increased percent inhibition of the startle response to a 125 db noise, when the startle noise is preceded by a light air puff.
Exp Paradigm: NA
Description: Mutants show increased percent prepulse inhibition of the startle response to a 125 db noise, when the startle noise is preceded by a prepulse at 80db.
Exp Paradigm: NA
Description: Mutants show decrease in amplitude of startle response to a 125 db startling noise but not to a 80db non-startling noise pulse.
Exp Paradigm: NA
Description: Mutants show dull eyes, dull/ungroomed coat and somewhat hunched stance.
Exp Paradigm: A score of 0 indicated a clean shiny coat, clear eyes and normal stance. a score of 1 indicated the appearance of dull eyes, dull/ungroomed coat and somewhat hunched stance. a score of 2 denoted narrowed or crusted eyes, piloerection and a hunched posture. a score of 3 indicated severe eye narrowing, profound piloerection or loss of fur, and severely hunched posture.
Description: Mutants show decreased startle amplitude to a 125 db noise during a 30-minute tactile ppi session, when comparing the first five startle responses to the last five responses to a 125 db noise.
Exp Paradigm: NA
Description: Mutants show increase in parvalbumin positive interneurons in the primary somatosensory cortex and the visual cortex but decreased parvalbumin positive neurons in the basolateral amygdala in mutants.
Exp Paradigm: NA
Description: Mutants show decrease in excitatory to inhibitory ratio in primary somatosensory cortex slices.
Exp Paradigm: Primary somatosensory cortex
Description: Mutants show increased percent inhibition of the startle response to a 125 db noise, when the startle noise is preceded by a light air puff.
Exp Paradigm: NA
Description: Mutants show increased percent prepulse inhibition of the startle response to a 125 db noise, when the startle noise is preceded by a prepulse at 80db.
Exp Paradigm: NA
Description: Mutants show dull eyes, dull/ungroomed coat and somewhat hunched stance.
Exp Paradigm: A score of 0 indicated a clean shiny coat, clear eyes and normal stance. a score of 1 indicated the appearance of dull eyes, dull/ungroomed coat and somewhat hunched stance. a score of 2 denoted narrowed or crusted eyes, piloerection and a hunched posture. a score of 3 indicated severe eye narrowing, profound piloerection or loss of fur, and severely hunched posture.
Description: Mutants show decreased startle amplitude to a 125 db noise during a 30-minute tactile ppi session, when comparing the first five startle responses to the last five responses.
Exp Paradigm: NA
Description: Male mutants show increased mecp2 promoter methylation in tail samples and in the parietal cortex, hippocampus, heart, liver, kidney, lung, and testis.
Exp Paradigm: NA
Description: Marked hyperphosphorylation of the map kinase erk1/2 (t202/y204) upon rotarod training; basal phosphorylation state of erk was not significantly altered in mutant m1 lysates without training; level of phosphorylation did not correlate with the latency
