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Relevance to Autism

A number of studies have focused on the genetic association of the OXTR gene with autism, including negative association. Cohorts and populations that have shown positive associations include AGRE, Chinese Han, Caucasian, Japanese, Irish, Portuguese, US and the United Kingdom. In addition, one study (Gregory et al., 2009) found a rare deletion in the OXTR gene in an autistic family. Genetic association has also been found between OXTR and lower levels of difficulty hearing and understanding people in noisy environments (Tops et al., 2011).

Molecular Function

The protein encoded by this gene belongs to the G-protein coupled receptor family and acts as a receptor for oxytocin. Its activity is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Positive association of the oxytocin receptor gene (OXTR) with autism in the Chinese Han population.
ASD
Positive Association
The oxytocin receptor gene polymorphism -rs237902- is associated with the severity of autism spectrum disorder: A pilot study.
ASD
ASD severity (based on CARS scores)
Positive Association
Association of the oxytocin receptor (OXTR) gene polymorphisms with autism spectrum disorder (ASD) in the Japanese population.
ASD
Positive Association
Association between Genetic Variation in the Oxytocin Receptor Gene and Emotional Withdrawal, but not between Oxytocin Pathway Genes and Diagnosis ...
Psychotic spectrum disorders
Emotional withdrawal
Positive Association
A functional polymorphism of the OXTR gene is associated with autistic traits in Caucasian and Asian populations.
ALTs
Positive Association
Evidence for the involvement of genetic variation in the oxytocin receptor gene (OXTR) in the etiology of autistic disorders on high-functioning le...
ASD
Positive Association
Genetic variation in the oxytocin receptor (OXTR) gene is associated with Asperger Syndrome.
ASD
Asperger syndrome
Positive Association
Oxytocin Receptor Polymorphisms are Differentially Associated with Social Abilities across Neurodevelopmental Disorders.
ASD, ADHD
Severity of social deficits
Positive Association
Genes controlling affiliative behavior as candidate genes for autism.
ASD
Positive Association
Plasma oxytocin concentrations and OXTR polymorphisms predict social impairments in children with and without autism spectrum disorder.
ALTs
Positive Association
Serum Oxytocin Levels and an Oxytocin Receptor Gene Polymorphism (rs2254298) Indicate Social Deficits in Children and Adolescents with Autism Spect...
ASD
"Stereotypes and object use" subscale in the Autis
Positive Association
Association between the oxytocin receptor (OXTR) gene and autism: relationship to Vineland Adaptive Behavior Scales and cognition.
ASD
Positive Association
The oxytocin receptor gene (OXTR) is associated with autism spectrum disorder: a meta-analysis.
ASD
Positive Association
ASD and Genetic Associations with Receptors for Oxytocin and Vasopressin-AVPR1A, AVPR1B, and OXTR.
ASD
ASD subphenotypes
Positive Association
Association of the oxytocin receptor gene (OXTR) in Caucasian children and adolescents with autism.
ASD
Positive Association
Non-synonymous single-nucleotide variations of the human oxytocin receptor gene and autism spectrum disorders: a case-control study in a Japanese p...
ASD
Positive Association
Meta-analysis and association of two common polymorphisms of the human oxytocin receptor gene in autism spectrum disorder.
ASD
Positive Association
Association of oxytocin receptor (OXTR) gene variants with multiple phenotype domains of autism spectrum disorder.
ASD
Positive Association
Genetic variation in the oxytocin receptor gene is associated with a social phenotype in autism spectrum disorders.
ASD
Social behavior, repetitive behavior
Negative Association
No Association between Polymorphisms of Vitamin D and Oxytocin Receptor Genes and Autistic Spectrum Disorder in a Sample of Turkish Children.
ASD
Negative Association
Association study in siblings and case-controls of serotonin- and oxytocin-related genes with high functioning autism.
ASD
Negative Association
Oxytocin receptor (OXTR) does not play a major role in the aetiology of autism: genetic and molecular studies.
ASD
Support
Integrating de novo and inherited variants in 42
ASD
Support
Variation in the oxytocin receptor gene (OXTR) is associated with differences in moral judgment.
Support
Structure-function relationships of the disease-linked A218T oxytocin receptor variant
ASD
ASD subphenotypes
Support
Neural correlate of autistic-like traits and a common allele in the oxytocin receptor gene.
ALTs
Support
Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings
ASD
Support
Genomic and epigenetic evidence for oxytocin receptor deficiency in autism.
ASD
Support
Imaging-genetics of sex differences in ASD: distinct effects of OXTR variants on brain connectivity.
Support
A common variant in OXTR rs53576 impacts topological patterns of brain functional networks.
Support
Oxytocin receptor knockout prairie voles generated by CRISPR/Cas9 editing show reduced preference for social novelty and exaggerated repetitive beh...
Support
Relationship of a common OXTR gene variant to brain structure and default mode network function in healthy humans.
Highly Cited
Inhibition of oxytocin receptor function by direct binding of progesterone.
Highly Cited
Alteration of the myometrial plasma membrane cholesterol content with beta-cyclodextrin modulates the binding affinity of the oxytocin receptor.
Highly Cited
Structure and expression of a human oxytocin receptor.
Recent Recommendation
CD38 is critical for social behaviour by regulating oxytocin secretion.
Recent Recommendation
Variant in OXTR gene and functional connectivity of the hypothalamus in normal subjects.
Recent recommendation
Epigenetic modification of the oxytocin receptor gene: implications for autism symptom severity and brain functional connectivity.
Recent Recommendation
Oxytocin receptor signaling in myoepithelial and cancer cells.
Recent Recommendation
Oxytocin receptor gene associated with the efficiency of social auditory processing.
Recent Recommendation
Prenatal stress exposure, oxytocin receptor gene (OXTR) methylation and child autistic traits: The moderating role of OXTR rs53576 genotype.
Recent Recommendation
Gonadal steroid modulation of stress-induced hypothalamo-pituitary-adrenal activity and anxiety behavior: role of central oxytocin.
Recent Recommendation
Pharmacologic rescue of impaired cognitive flexibility, social deficits, increased aggression, and seizure susceptibility in oxytocin receptor null...
Recent Recommendation
Hypomethylation of miR-142 promoter and upregulation of microRNAs that target the oxytocin receptor gene in the autism prefrontal cortex.
Recent Recommendation
Association between the oxytocin receptor gene and amygdalar volume in healthy adults.
Recent Recommendation
Association between the oxytocin receptor (OXTR) gene and mesolimbic responses to rewards.
Recent Recommendation
A conditional knockout mouse line of the oxytocin receptor.
Recent Recommendation
Possible association between the oxytocin receptor gene and N-acetylaspartate of the right medial temporal lobe in autism spectrum disorders.
Recent Recommendation
G-protein coupled receptors & autism -- reflections on a double-edged sword at the example of the oxytocin receptor system.
Recent Recommendation
Common polymorphism in the oxytocin receptor gene (OXTR) is associated with human social recognition skills.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN187R001 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Multiplex 
 GEN187R002 
 missense_variant 
 c.1126C>G 
 p.Arg376Gly 
 Familial 
 Maternal 
  
 GEN187R003 
 missense_variant 
 c.121G>T 
 p.Val41Leu 
 De novo 
  
  

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN187C001 
 intron_variant 
 rs2254298 
 c.922+6724C>T 
 G/A 
 Chinese Han 
 Discovery 
 GEN187C002 
 intron_variant 
 rs53576 
 c.922+4581T>C 
 G to A 
 Chinese Han 
 Discovery 
 GEN187C003 
 intron_variant 
 rs2254298 
 c.922+6724C>T 
  
 Caucasian 
 Replication 
 GEN187C004 
 intron_variant 
 rs2268494 
 c.922+6906A>T 
 A to T 
  
 Discovery 
 GEN187C005 
 3_prime_UTR_variant 
 rs1042778 
 c.*118C>A 
  
  
 Discovery 
 GEN187C006 
 intron_variant 
 rs4686301 
 c.923-3676G>A 
 C to T 
  
 Discovery 
 GEN187C007 
 3_prime_UTR_variant 
 rs1042778 
 c.*118C>A 
  
  
 Replication 
 GEN187C008 
 intron_variant 
 rs4686301 
 c.923-3676G>A 
 C to T 
  
 Replication 
 GEN187C009 
 3_prime_UTR_variant 
 rs6770632 
 c.*939G>T 
 A to C 
  
 Discovery 
 GEN187C010 
 intron_variant 
 rs2268493 
 c.923-5930A>G 
 T to C 
  
 Discovery 
 GEN187C011 
 upstream_gene_variant 
 rs2270465 
  
 C to G 
  
 Discovery 
 GEN187C012 
 intron_variant 
 rs237887 
 c.923-2132C>T 
 N/A 
 Japanese 
 Discovery 
 GEN187C013 
 intron_variant 
 rs2268491 
 c.923-5488G>A 
 C to T 
 Japanese 
 Discovery 
 GEN187C014 
 intron_variant 
 rs2254298 
 c.922+6724C>T 
 G/A 
 Japanese 
 Replication 
 GEN187C015 
 intron_variant 
 rs2268495 
 c.922+1417C>T 
 G to A 
 Japanese 
 Discovery 
 GEN187C016 
 downstream_gene_variant 
 rs11720238 
  
  
 Irish 
 Discovery 
 GEN187C017 
 downstream_gene_variant 
 rs7632287 
  
 N/A 
 Irish, Portuguese, United Kingdom 
 Discovery 
 GEN187C018 
 intron_variant 
 rs4564970 
 c.-238-131C>G 
 N/A 
 Irish 
 Discovery 
 GEN187C019 
 intron_variant 
 rs2268493 
 c.923-5930A>G 
 T to C 
 AGRE, US (95% Caucasian) 
 Replication 
 GEN187C020 
 3_prime_UTR_variant 
 rs1042778 
 c.*118C>A 
  
 AGRE, US (95% Caucasian) 
 Replication 
 GEN187C021 
 downstream_gene_variant 
 rs7632287 
  
 N/A 
 AGRE, US (95% Caucasian) 
 Replication 
 GEN187C022 
 intron_variant 
 rs53576 
 c.922+4581T>C 
 N/A 
 93.8% Netherlands 
 Discovery 
 GEN187C023 
 missense_variant 
 rs35062132 
 c.1126C>G 
 c.Arg376Gly 
 132 Japanese ASD patients & 248 unrelated Japanese controls 
 Discovery 
 GEN187C024 
 downstream_gene_variant 
 rs7632287 
  
 Minor allele, A 
 Meta-analysis of 2769 ASD families from 4 independent samples (from Tansey et al., 2010 and Campbell et al., 2011) 
 Combined (meta-analysis) 
 GEN187C025 
 intron_variant 
 rs237887 
 c.923-2132C>T 
 Minor allele, G 
 Meta-analysis of 2984 ASD families and 280 cases/440 controls from 6 independent samples (from Liu et al., 2010a; Tansey et al., 2010; and Campbell et al., 2011) 
 Combined (meta-analysis) 
 GEN187C026 
 intron_variant 
 rs2268491 
 c.923-5488G>A 
 Minor allele, T 
 Meta-analysis of 2984 ASD families and 280 cases/440 controls from 6 independent samples (from Liu et al., 2010a; Tansey et al., 2010; and Campbell et al., 2011) 
 Combined (meta-analysis) 
 GEN187C027 
 intron_variant 
 rs2254298 
 c.922+6724C>T 
 Minor allele, A 
 Meta-analysis of 2900 ASD families and 280 cases/440 controls from 6 independent samples (from Wu et al., 2005; Jacob et al., 2007; Liu et al., 2010; Wermter et al., 2010; and Campbell et al., 2011) 
 Combined (meta-analysis) 
 GEN187C028 
 intron_variant 
 rs53576 
 c.922+4581T>C 
 G/A 
 79 children with ASD, 52 unaffected siblings, and 62 unrelated neurotypical control children, ages 3-12 yrs. 
 Replication 
 GEN187C029 
 intron_variant 
 rs2254298 
 c.922+6724C>T 
 G/A 
 79 children with ASD, 52 unaffected siblings, and 62 unrelated neurotypical control children, ages 3-12 yrs. 
 Replication 
 GEN187C030 
 intron_variant 
 rs2254298 
 c.922+6724C>T 
 G/A 
 79 children with ASD (47 with autism, 32 with PDD-NOS) 
 Replication 
 GEN187C031 
 intron_variant 
 rs2268493 
 c.923-5930A>G 
 C/T 
 118 Asperger syndrome cases (74 males, 44 females) and 412 controls (185 males, 227 females); all participants of Caucasian origin 
 Replication 
 GEN187C032 
 intron_variant 
 rs53576 
 c.922+4581T>C 
  
 734 subjects with DSM-IV psychotic spectrum disorders, 420 healthy controls 
 Discovery 
 GEN187C033 
 downstream_gene_variant 
 rs7632287 
  
  
 565 ASD probands from SSC 
 Replication 
 GEN187C034 
 500B_downstream_variant, 3_prime_UTR_variant 
 rs237884 
 c.*1078C>T 
  
 997 ASD probands from SSC 
 Discovery 
 GEN187C035 
 intron_variant 
 rs237889 
 c.922+6469A>G 
  
 Homberg sample of 178 cases: 135 complete parent-offspring trios, 29 parent child duos; 89% Male; 72.8% high-functioning ASD (IQ70). Meta-analysis sample: two previously published studies (Tansey et al., 2010; Campbell et al., 2011) and two previously unpublished German cohorts from PMID 26788924 
 Discovery 
 GEN187C036 
 intron_variant 
 rs237897 
 c.922+667T>C 
  
 Homberg sample of 178 cases: 135 complete parent-offspring trios, 29 parent child duos; 89% Male; 72.8% high-functioning ASD (IQ70) 
 Discovery 
 GEN187C037 
 intron_variant 
 rs2268493 
 c.923-5930A>G 
  
 207 families with an ASD proband (diagnosed using ADOS, ADI-R, and confirmed according to DSM-IV-TR) recruited through the Developmental Disorders Clinic of the University of Chicago (UIC) Institute of Juvenile Research 
 Replication 
 GEN187C038 
 intron_variant 
 rs2268493 
 c.923-5930A>G 
  
 207 families with an ASD proband (diagnosed using ADOS, ADI-R, and confirmed according to DSM-IV-TR) recruited through the Developmental Disorders Clinic of the University of Chicago (UIC) Institute of Juvenile Research 
 Replication 
 GEN187C039 
 missense_variant 
 rs4686302 
 c.652G>A 
 p.Ala218Thr 
 207 families with an ASD proband (diagnosed using ADOS, ADI-R, and confirmed according to DSM-IV-TR) recruited through the Developmental Disorders Clinic of the University of Chicago (UIC) Institute of Juvenile Research 
 Discovery 
 GEN187C040 
 intron_variant 
 rs2254298 
 c.922+6724C>T 
  
 207 families with an ASD proband (diagnosed using ADOS, ADI-R, and confirmed according to DSM-IV-TR) recruited through the Developmental Disorders Clinic of the University of Chicago (UIC) Institute of Juvenile Research 
 Replication 
 GEN187C041 
 3_prime_UTR_variant 
 rs1042778 
 c.*118C>A 
  
 207 families with an ASD proband (diagnosed using ADOS, ADI-R, and confirmed according to DSM-IV-TR) recruited through the Developmental Disorders Clinic of the University of Chicago (UIC) Institute of Juvenile Research 
 Replication 
 GEN187C042 
 intron_variant 
 rs2254298 
 c.922+6724C>T 
  
 100 Han Chinese ASD subjects 
 Replication 
 GEN187C043 
 intron_variant 
 rs53576 
 c.922+4581T>C 
  
 Cohort of 341 ASD probands (mean age 10.6 years) which included 211 Caucasian probands (mean age 11.3 3.8 years, 22.8 % female) 
 Replication 
 GEN187C044 
 intron_variant 
 rs2254298 
 c.922+6724C>T 
  
 Cohort of 341 ASD probands (mean age 10.6 years) which included 211 Caucasian probands (mean age 11.3 3.8 years, 22.8 % female) 
 Replication 
 GEN187C045 
 intron_variant 
 rs237887 
 c.923-2132C>T 
  
 Cohort of 341 ASD probands (mean age 10.6 years) consisting of 211 Caucasian probands (mean age 11.3 3.8 years, 22.8% female) and 130 non-Caucasian probands (mean age 9.8 4.0 years, 19.2% female) 
 Replication 
 GEN187C046 
 intron_variant 
 rs53576 
 c.922+4581T>C 
  
 Cohort of 193 Caucasian ADHD probands (mean age 10.7 2.8 years, 23.8% female) 
 Replication 
 GEN187C047 
 intron_variant 
 rs2254298 
 c.922+6724C>T 
  
 Cohort of 193 Caucasian ADHD probands (mean age 10.7 2.8 years, 23.8% female) 
 Replication 
 GEN187C048 
 2_KB_upstream_variant 
 rs2268498 
 c.-1733A>G;c.-1710A>G 
  
 537 mostly healthy, mostly Caucasian participants (154 males, 383 females; mean age 23.28 5.12 years) recruited from the Ulm Gene Brain Behavior Project (UGBBP) 
 Discovery 
 GEN187C049 
 2_KB_upstream_variant 
 rs2268498 
 c.-1733A>G;c.-1710A>G 
  
 280 mostly Han Chinese participants (189 males, 91 females; mean age 22.13 2.33 years) belonging to the Chengdu Gene Brain Behavior Project (CGBBP) 
 Replication 
 GEN187C050 
 synonymous_variant 
 rs237902 
 c.690C>T 
 p.(=) 
 100 Turkish children with ASD 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Deletion-Duplication
 20
 
3
Deletion
 1
 
3
Duplication
 3
 
3
Duplication
 1
 
3
Duplication
 1
 
3
Duplication
 1
 
3
Duplication
 2
 
3
Deletion
 3
 
3
Duplication
 1
 

Model Summary

OXTR plays a critical role in regulating several aspects of social behavior and may have important implications for developmental psychiatric disorders characterized by deficits in social behavior.

References

Type
Title
Author, Year
Primary
Pervasive social deficits, but normal parturition, in oxytocin receptor-deficient mice.
Additional
A conditional knockout mouse line of the oxytocin receptor.
Additional
Oxytocin receptor-deficient mice developed late-onset obesity.
Additional
Pharmacologic rescue of impaired cognitive flexibility, social deficits, increased aggression, and seizure susceptibility in oxytocin receptor null...
Additional
Oxytocin receptor knockout mice display deficits in the expression of autism-related behaviors.
Primary
Social reward requires coordinated activity of nucleus accumbens oxytocin and serotonin.
Additional
Mechanisms Underlying Microbial-Mediated Changes in Social Behavior in Mouse Models of Autism Spectrum Disorder.

M_OXTR_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: A targeting vector with PGK-Neo cassette inserted into intron 3 along with three loxP sites around exons 2 and 3 and the PGK-Neo.
Allele Type: Targeted (knock-out)
Strain of Origin: 129P2/OlaHsd
Genetic Background: 129P2/OlaHsd * C57BL/6J
ES Cell Line: E14TG2a
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_OXTR_2_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Cre-loxP mediated deletion of exon 2 and 3 of Oxtr gene with Cre recombinase under the control of a germ cell expression promoter.
Allele Type: Targeted (Knock Out)
Strain of Origin: Not Specified
Genetic Background: Not Specified
ES Cell Line: 129/Sv R1
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_OXTR_3_CKO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Conditional deletion of exons 2 - 3 of the Oxtr gene 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: 129/Sv R1
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_OXTR_4_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Gene targeted disruption of Exons 3 and 4 of the Oxtr gene.
Allele Type: Targeted (Knock Out)
Strain of Origin: Not Specified
Genetic Background: 129/Ola x C57BL/6J
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_OXTR_5_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: A targeting vector with PGK-Neo cassette inserted into intron 3 along with three loxP sites around exons 2 and 3 and the PGK-Neo.
Allele Type: Targeted (knock-out)
Strain of Origin: Not Specified
Genetic Background: B6.129SJ-Oxtrtm1.1Wsy/J
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_OXTR_10_CKO_HM_VSB

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Conditional deletion of exons 2-3 of the OXTR gene using a cre expressing AAV vector stereotaxically injected into the ventral subiculum (VnSb), ablating postsynaptic oxytocin receptors in the region
Allele Type: Conditional loss-of-function
Strain of Origin:
Genetic Background: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * SJL
ES Cell Line: 129/Sv R1 line
Mutant ES Cell Line:
Model Source: JAX

M_OXTR_11_CKO_HM_DRN

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Conditional deletion of exons 2-3 of the OXTR gene using a cre expressing AAV vector stereotaxically injected into the Dorsal Raphe Nucleus (DrRN),ablating postsynaptic oxytocin receptors in the region
Allele Type: Conditional loss-of-function
Strain of Origin:
Genetic Background: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * SJL
ES Cell Line: 129/Sv R1 line
Mutant ES Cell Line:
Model Source: JAX

M_OXTR_6_WT_OTANT

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Male wild type mice were injected with the Oxytocin Receptor Antagonist - L-368,899 hydrocholoride, 5 mg/kg twice a day for two days, intraperitoneally or using Andalman probes.
Allele Type: NA
Strain of Origin:
Genetic Background: C57BL/6
ES Cell Line:
Mutant ES Cell Line:
Model Source: JAX

M_OXTR_7_CKO_HM_NAC

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Conditional deletion of exons 2-3 of the OXTR gene using a cre expressing AAV vector stereotaxically injected into the nucleus accumbens (Nac), ablating postsynaptic oxytocin receptors in the region
Allele Type: Conditional loss-of-function
Strain of Origin:
Genetic Background: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * SJL
ES Cell Line: 129/Sv R1 line
Mutant ES Cell Line:
Model Source: JAX

M_OXTR_8_CKO_HM_NAC

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Conditional deletion of exons 2-3 of the OXTR gene using a cre expressing rabies viral vector stereotaxically injected into the nucleus accumbens (Nac), ablating the presynaptic oxytocin receptors
Allele Type: Conditional loss-of-function
Strain of Origin:
Genetic Background: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * SJL
ES Cell Line: 129/Sv R1 line
Mutant ES Cell Line:
Model Source: JAX

M_OXTR_9_CKO_HM_ACC

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Conditional deletion of exons 2-3 of the OXTR gene using a cre expressing AAV vector stereotaxically injected into the anterior cingulate cortex (ACC), ablating postsynaptic oxytocin receptors in the region
Allele Type: Conditional loss-of-function
Strain of Origin:
Genetic Background: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * SJL
ES Cell Line: 129/Sv R1 line
Mutant ES Cell Line:
Model Source: JAX

M_OXTR_12_CKO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: DA-Oxtr homozygous conditional knockout mice (DAT-cre, Oxtr^fl/fl) mice were generated by crossing DAT-cre mice ( JAX, cat no. 020080) to Oxtr^fl/fl mice (from Benjamin R. Arenkiel's laboratory, PMID 18356275) and cohoused by genotype and sex.
Allele Type: Conditional knockout
Strain of Origin: Not Specified
Genetic Background: Not Specified
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: JAX

M_OXTR_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
General locomotor activity1
Increased
Description: Higher levels of locomotor activity
Exp Paradigm: Number of 4.5 4.5-cm grids crossed
 Distance traveled in a grid
 P7
Seizures2
Increased
Description: Increased incidence of ptz induced myoclonic seizures with reduced time latency
Exp Paradigm: Male mice: eeg recordings after 30 mg/kg ptz administration
 Electroencephalogram (eeg)
 12-16 weeks
Social memory2
Decreased
Description: Decreased social memory indicated by same duration spent with stranger and the familiar mouse
Exp Paradigm: Male mice: sociabliity and preference for social novelty test
 Three-chamber social approach test
 12-16 weeks
Social interaction2
Decreased
Description: Decreased social interactions indicated by no change in time spent at cage occupied by unfamiliar mouse vs. empty cage
Exp Paradigm: Male mice: sociabliity and preference for social novelty test
 Three-chamber social approach test
 12-16 weeks
Aggression2
Increased
Description: Increased aggression as measured by number of attacks and attack and rattle latency
Exp Paradigm: Male mice: observation of aggressoin against opponent mouse
 Resident-intruder test
 12-16 weeks
Social memory1
Abnormal
Description: Impaired social discrimination / recognition
Exp Paradigm: Social discrimination test; males only
 Social recognition test
 4-7 months
Aggression1
Increased
Description: Increased aggression
Exp Paradigm: Resident-intruder aggression test
 Resident-intruder test
 10 weeks
Ultrasonic vocalization1
Decreased
Description: Decreased ultrasonic vocalization
Exp Paradigm: Isolation-induced ultrasonic vocalizations
 Monitoring ultrasonic vocalizations
 P7
Cognitive flexibility2
Decreased
Description: Decreased cognitive flexibility indicated by slower reversal learning of baited arm
Exp Paradigm: Male mice: appetite-motivated t-maze test
 T-maze test
 12-16 weeks
Nursing/lactation1
Abnormal
Description: Abnormal lactation
Exp Paradigm: General observations; females only
 General observations
 Adult
Maternal nurturing1
Abnormal
Description: Abnormal maternal crouching
Exp Paradigm: General observations; females only
 General observations
 Adult
Pup retrieval1
Abnormal
Description: Abnormal pup retrieval
Exp Paradigm: General observations; females only
 General observations
 Adult
General characteristics1
 No change
 Genotypic ratio of progeny from heterozygous parents
 P0
Reproductive system development1
 No change
 General observations
 Adult
Anxiety2
 No change
 Open field test
 12-16 weeks
Depression2
 No change
 NA
 12-16 weeks
General locomotor activity2
 No change
 Open field test
 12-16 weeks
Seizures2
 No change
 Electroencephalogram (eeg)
 12-16 weeks
Olfaction2
 No change
 NA
 12-16 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory

M_OXTR_2_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Social memory1
Decreased
Description: Decreased social memory/recognition demonstrated by repeated investigation of familiar female
Exp Paradigm: Male mice: two-trial task
 Social recognition test
 10 weeks
General characteristics1
 No change
 General observations
 10 weeks
Anxiety1
 No change
 Elevated plus maze test
 10 weeks
Anxiety1
 No change
 Open field test
 10 weeks
Grip strength1
 No change
 Wire hang test
 10 weeks
Motor coordination and balance1
 No change
 Accelerating rotarod test
 10 weeks
Hearing1
 No change
 Preyer's reflex test
 10 weeks
Olfaction1
 No change
 Olfactory habituation-dishabituation test
 10 weeks
Taste1
 No change
 Sucrose preference test
 10 weeks
Vision1
 No change
 Forepaw reaching test
 10 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Immune response, Learning & memory, Maternal behavior, Molecular profile, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure

M_OXTR_3_CKO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Size/growth1
Decreased
Description: Decreased weight
Exp Paradigm: General observations
 General observations
 3 months
General characteristics1
 No change
 General observations
 3 months
Anxiety1
 No change
 Elevated plus maze test
 3 months
Anxiety1
 No change
 Open field test
 3 months
Grip strength1
 No change
 Wire hang test
 3 months
Motor coordination and balance1
 No change
 Accelerating rotarod test
 3 months
Hearing1
 No change
 Preyer's reflex test
 3 months
Olfaction1
 No change
 Olfactory habituation-dishabituation test
 3 months
Taste1
 No change
 Sucrose preference test
 3 months
Vision1
 No change
 Forepaw reaching test
 3 months
Social memory1
 No change
 Social recognition test
 3 months
 Not Reported: Circadian sleep/wake cycle, Communications, Immune response, Learning & memory, Maternal behavior, Molecular profile, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure

M_OXTR_4_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Serum lipid levels1
Increased
Description: Increased plasma triglycerices in the fasted state
Exp Paradigm: Eyzymatic plasma measurment kits: glucose-cii, triglyceride-e, cholesterol-e
 Measurement of blood lipids
 4.5 months
Hypothermia1
Decreased
Description: Decrease in the core body temperature after cold exposure
Exp Paradigm: Core body temperature measurement
 Body temperature measurement
 Unreported
Size/growth1
Increased
Description: Increased weight of abdominal fat pads, increased adipocyte cells size - indicative of hypertrophy
Exp Paradigm: Histological analysis and adipocyte size measurements
 Histology
 4.5 months
Size/growth1
Increased
Description: Increased weight gain resulting in late-onset obesity
Exp Paradigm: General observations
 General observations
 10-30 weeks
Size/growth1
 No change
 Histology
 4.5 months
General locomotor activity1
 No change
 Home cage behavior
 8-13 weeks
Satiety response1
 No change
 Food intake measurements
 8-13 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_OXTR_5_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Self grooming: perseveration1
Increased
Description: Increased self grooming behavior
Exp Paradigm: Visual burrowing system - measure of self-grooming
 Visible burrow system
 10-14 weeks
Social approach1
Decreased
Description: Decreased social approach indicated by no significant preference for one side over the other and significant reduction in the frequency of sniff behavior
Exp Paradigm: Three-chambered social approach test
 Three-chamber social approach test
 10-14 weeks
Social scent marking or recognition1
Decreased
Description: Decreased social scent marking
Exp Paradigm: Urinary scent marking
 Scent marking test
 10-14 weeks
Huddling behavior1
Decreased
Description: Decreased huddling behavior
Exp Paradigm: Visual burrowing system - measure of huddling
 Visible burrow system
 10-14 weeks
Social interaction1
Decreased
Description: Decreased social proximity demonstrated in frequency of nose to nose and anogenital sniff
Exp Paradigm: Social proximity test
 Reciprocal social interaction test
 10-14 weeks
Allogrooming1
Decreased
Description: Decreased allo-grooming behavior
Exp Paradigm: Visual burrowing system - measure of allo-grooming
 Visible burrow system
 10-14 weeks
Social interaction1
Decreased
Description: Decreased social interaction indicated by decreased frontal approach, flight, and chase/follow behavior
Exp Paradigm: Visual burrowing system - measures for frontal approach, flight, and chase/follow
 Visible burrow system
 10-14 weeks
Social withdrawal1
Increased
Description: Increased time spent alone during the dark period
Exp Paradigm: Visual burrowing system - time spent alone
 Visible burrow system
 10-14 weeks
Object recognition memory1
 No change
 Novel object recognition test
 10-14 weeks
Self grooming: social context1
 No change
 Grooming behavior assessments
 10-14 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Seizure, Sensory

M_OXTR_10_CKO_HM_VSB

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Social place preference1
 No change
 Social conditioned place preference
 4-6 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory

M_OXTR_11_CKO_HM_DRN

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Social place preference1
Decreased
Description: Injection of aav-cre-egfp to delete otrs from cells within the dorsal raphe nucleus, an important source of serotonin in the brain, prevented social conditioning in the social cpp testlearning in wild type or conditional otr ko mice
Exp Paradigm: The protocol involved two days of conditioning. mice were housed in home cages, containing 3-5 cage-mates, onto corn cob bedding. animals were placed in an open field chamber with infrared beams. the apparatus was divided into two equally sized zones using a clear plastic wall, with a circular opening at the base. during preconditioning the baseline preference for the two sets of bedding was established. during social conditioning mice were housed with cage mates on one type of bedding for 24 hrs (social bedding cue) and then on the other type of bedding in the next 24 hrs (isolated bedding cue- conditioning). 24 hrs later in the post conditioning trial, the preference of the mice for social versus isolate cues was established in the open field chamber, in
 Social conditioned place preference
 4-6 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory

M_OXTR_6_WT_OTANT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Social place preference1
Decreased
Description: Otr-antagonist treated mice showed no preference to socially conditioned context, whereas wild type mice showed robust preference to it.
Exp Paradigm: The protocol involved two days of conditioning. mice were housed in home cages, containing 3-5 cage-mates, onto corn cob bedding. animals were placed in an open field chamber with infrared beams. the apparatus was divided into two equally sized zones using a clear plastic wall, with a circular opening at the base. during preconditioning the baseline preference for the two sets of bedding was established. during social conditioning mice were housed with cage mates on one type of bedding for 24 hrs (social bedding cue) and then on the other type of bedding in the next 24 hrs (isolated bedding cue- conditioning). 24 hrs later in the post conditioning trial, the preference of the mice for social versus isolate cues was established in the open field chamber, in
 NA
 4-6 weeks
Social place preference1
Decreased
Description: OTR-antagonist treated mice showed no preference to socially conditioned context, whereas wild type mice showed robust preference to it.
Exp Paradigm: The protocol involved two days of conditioning. Mice were housed in home cages, containing 3-5 cage-mates, onto corn cob bedding. Animals were placed in an open field chamber with infrared beams. The apparatus was divided into two equally sized zones using a clear plastic wall, with a circular opening at the base. During preconditioning the baseline preference for the two sets of bedding was established. During social conditioning mice were housed with cage mates on one type of bedding for 24 hrs (social bedding cue) and then on the other type of bedding in the next 24 hrs (isolated bedding cue- conditioning). 24 hrs later in the post conditioning trial, the preference of the mice for social versus isolate cues was established in the open field chamber, in
 
 4-6 weeks
Cued or contextual fear conditioning: memory of cue1
 No change
 Conditioned place preference test
 4-6 weeks
General locomotor activity1
 No change
 Open field test
 4-6 weeks
 Not Reported: Circadian sleep/wake cycle, Circadian sleep/wake cycle, Communications, Communications, Developmental profile, Developmental profile, Emotion, Emotion, Immune response, Immune response, Maternal behavior, Maternal behavior, Molecular profile, Molecular profile, Neuroanatomy / ultrastructure / cytoarchitecture, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Neurophysiology, Physiological parameters, Physiological parameters, Repetitive behavior, Repetitive behavior, Seizure, Seizure, Sensory, Sensory

M_OXTR_7_CKO_HM_NAC

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Social place preference1
 No change
 Social conditioned place preference
 4-6 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory

M_OXTR_8_CKO_HM_NAC

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Social place preference1
Decreased
Description: Injection of rbv-cre-egfp to delete presynaptic otrs in the nucleus accumbens blocked social cpp in conditional otr ko mice, but had no effect on wild type mice
Exp Paradigm: The protocol involved two days of conditioning. mice were housed in home cages, containing 3-5 cage-mates, onto corn cob bedding. animals were placed in an open field chamber with infrared beams. the apparatus was divided into two equally sized zones using a clear plastic wall, with a circular opening at the base. during preconditioning the baseline preference for the two sets of bedding was established. during social conditioning mice were housed with cage mates on one type of bedding for 24 hrs (social bedding cue) and then on the other type of bedding in the next 24 hrs (isolated bedding cue- conditioning). 24 hrs later in the post conditioning trial, the preference of the mice for social versus isolate cues was established in the open field chamber, in
 Social conditioned place preference
 4-6 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory

M_OXTR_9_CKO_HM_ACC

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Social place preference1
 No change
 Social conditioned place preference
 4-6 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory

M_OXTR_12_CKO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Synaptic plasticity: ventral tegmental area ltp1
Decreased
Description: Mutants show decrease in ampar/nmdar ratio in the da neurons in the vta compared with controls, indicating a decrease in ltp.
Exp Paradigm: NA
 Whole-cell patch clamp
 7-10 weeks
Social interaction1
Decreased
Description: Mutants spent less time interacting socially compared with controls.
Exp Paradigm: NA
 Reciprocal social interaction test
 7-10 weeks
Intestinal microbiota composition1
 No change
 Quantitative pcr (qrt-pcr)
 7-10 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Physiological parameters, Repetitive behavior, Seizure, Sensory





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