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Relevance to Autism

Autosomal-recessive "founder" mutations in the CC2D1A gene were identified in 4 families with a total of 16 individuals affected by a spectrum of cognitive and social impairments, including ASD, non-syndromic ID, and seizures (Manzini et al., 2014).

Molecular Function

This gene encodes a transcriptional repressor that binds specifically to the DRE (dual repressor element) and represses HTR1A gene transcription in neuronal cells. Performs an essential function in controlling the functional maturation of synapses. Mutations in this gene are associated with mental retardation, autosomal recessive 3 (MRT3) [MIM:608443], a non-syndromic disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
CC2D1A regulates human intellectual and social function as well as NF-B signaling homeostasis.
ASD, ID
Epilepsy/seizures
Support
Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.
DD, ADHD, OCD
Support
Loss of CC2D1A in Glutamatergic Neurons Results in Autistic-Like Features in Mice
ASD
Support
The roles of CC2D1A and HTR1A gene expressions in autism spectrum disorders.
ASD
Support
The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing
ID
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
Autosomal recessive nonsyndromic mental retardatio
Support
Cc2d1a, a C2 domain containing protein linked to nonsyndromic mental retardation, controls functional maturation of central synapses.
Support
Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes.
ASD
ID
Support
Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel.
ID
Support
Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellect...
DD, ID
ASD or autistic features, seizures
Support
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
ID
Aggressive behavior
Highly Cited
The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation.
ID
Recent Recommendation
Cc2d1a Loss of Function Disrupts Functional and Morphological Development in Forebrain Neurons Leading to Cognitive and Social Deficits.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN621R001a 
 splice_site_variant 
 c.748+1G>T 
  
 Familial 
 Both parents 
 Multiplex 
 GEN621R002a 
 splice_site_variant 
 c.748+1G>T 
  
 Familial 
 Both parents 
 Multiplex 
 GEN621R003a 
 splice_site_variant 
 c.748+1G>T 
  
 Familial 
 Both parents 
 Multiplex 
 GEN621R004a 
 frameshift_variant 
 c.347del 
 p.Lys116ArgfsTer82 
 Familial 
 Both parents 
 Multiplex 
 GEN621R005a 
 copy_number_loss 
 IVS13_IVS16del 
 p.Gly408fsTer437 
 Familial 
 Both parents 
 Multiplex 
 GEN621R006a 
 copy_number_loss 
 IVS13_IVS16del 
 p.Gly408fsTer437 
 Familial 
 Both parents 
 Simplex 
 GEN621R007a 
 copy_number_loss 
 IVS13_IVS16del 
 p.Gly408fsTer437 
 Familial 
 Both parents 
 Multiplex 
 GEN621R008a 
 copy_number_loss 
 IVS13_IVS16del 
 p.Gly408fsTer437 
 Familial 
 Both parents 
 Simplex 
 GEN621R009a 
 copy_number_loss 
 IVS13_IVS16del 
 p.Gly408fsTer437 
 Familial 
 Both parents 
 Simplex 
 GEN621R010a 
 copy_number_loss 
 IVS13_IVS16del 
 p.Gly408fsTer437 
 Familial 
 Both parents 
 Simplex 
 GEN621R011a 
 copy_number_loss 
 IVS13_IVS16del 
 p.Gly408fsTer437 
 Familial 
 Both parents 
 Multiplex 
 GEN621R012a 
 copy_number_loss 
 IVS13_IVS16del 
 p.Gly408fsTer437 
 Familial 
 Both parents 
 Multiplex 
 GEN621R013a 
 copy_number_loss 
 IVS13_IVS16del 
 p.Gly408fsTer437 
 Familial 
 Both parents 
 Multiplex 
 GEN621R014 
 stop_gained 
 c.1552G>T 
 p.Glu518Ter 
 De novo 
 NA 
 Simplex 
 GEN621R015 
 intron_variant 
 c.2074-27G>A 
  
 De novo 
 NA 
 Simplex 
 GEN621R016a 
 missense_variant 
 c.1739C>T 
 p.Thr580Ile 
 Unknown 
  
  
 GEN621R016b 
 missense_variant 
 c.2657G>A 
 p.Arg886His 
 Unknown 
  
  
 GEN621R017a 
 frameshift_variant 
 c.2693del 
 p.Gly898ValfsTer45 
 Familial 
 Both parents 
 Multiplex 
 GEN621R018a 
 frameshift_variant 
 c.811del 
 p.Ala271ProfsTer30 
 Familial 
 Both parents 
 Multiplex 
 GEN621R019a 
 missense_variant 
 c.380C>T 
 p.Pro127Leu 
 Unknown 
  
  
 GEN621R019b 
 missense_variant 
 c.2728G>A 
 p.Glu910Lys 
 Unknown 
  
  
 GEN621R020a 
 splice_site_variant 
 c.748+1G>T 
  
  
 Both parents 
  
 GEN621R021a 
 missense_variant 
 c.270G>C 
 p.Glu90Asp 
 Familial 
 Paternal 
  
 GEN621R021b 
 missense_variant 
 c.2342G>T 
 p.Gly781Val 
 Familial 
 Maternal 
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
19
Deletion-Duplication
 16
 
19
Duplication
 1
 
19
Deletion
 2
 
19
Deletion
 1
 
19
Duplication
 2
 
19
Deletion-Duplication
 5
 
19
Duplication
 1
 
19
Duplication
 1
 

Model Summary

Ccd2d1a null mice die very soon after birth, recapitulated in different constructs developed in different laboratories. The cause of death is failure to breathe and impaired swallowing even if overall the newborn pups do not display any major anatomical defect in the heart, lung or brain. Ccd2d1a conditional knockout from forebrain excitatory neurons specifically results in mice that survive through adulthood and are fertile. These conditional knockouts display several behavioral impairments including poor spatial learning, excessive self-grooming, hyperactivity, increased anxiety and deficiencies in social approach and communication.

References

Type
Title
Author, Year
Primary
Cc2d1a Loss of Function Disrupts Functional and Morphological Development in Forebrain Neurons Leading to Cognitive and Social Deficits.
Cc2d1a Loss of Function Disrupts Functional and Morphological Development in Forebrain Neurons Leading to Cognitive and Social Deficits.
Additional
Loss of the Intellectual Disability and Autism Gene Cc2d1a and Its Homolog Cc2d1b Differentially Affect Spatial Memory, Anxiety, and Hyperactivity.

M_CC2D1A_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: The targeting construct constains engrailed 2 splice acceptor (EN2SA) gene-trap allele with bicistronic expression of beta-galactosidase and a neo cassette under the human beta-actin promoter. These two elements are flanked by FRT sites in intron 11 of Cc2d1a. The loxP sites flank exons 12-14. Authors note that t.
Allele Type: Gene trapped
Strain of Origin: C57BL/6
Genetic Background: C57BL/6
ES Cell Line: C57BL/6
Mutant ES Cell Line:
Model Source: Knockout mouse project repository (ID 49663)

M_CC2D1A_2_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: To avert early mortality of Cc2d1a null pups, the gene trapped mice were bred on to several backgrounds including 129/SvEvTac and Swiss Webster.
Allele Type: Gene trapped
Strain of Origin:
Genetic Background: 129Sv/EvTac
ES Cell Line:
Mutant ES Cell Line:
Model Source: 26826102

M_CC2D1A_3_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: To avert early mortality of Cc2d1a null pups, the gene trapped mice were bred on to several backgrounds including 129/SvEvTac and Swiss Webster.
Allele Type: Gene trapped
Strain of Origin:
Genetic Background: Swiss Webster
ES Cell Line:
Mutant ES Cell Line:
Model Source: 26826102

M_CC2D1A_4_CKO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Conditional deletion of exons 12-14 of the Cc2d1a (gene- trapped construct) using Camk11-cre, in excitatory neurons of the forebrain. A reporter line Thy1-YFP-H was crossed with the cKO to visualize dendritic architecture.
Allele Type: Conditional loss-of-function
Strain of Origin: 129Sv/EvTac
Genetic Background: C57BL/6
ES Cell Line:
Mutant ES Cell Line:
Model Source: 26826102

M_CC2D1A_5_CKO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Conditional deletion of exons 12-14 of the Cc2d1a (gene- trapped construct) 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:
Genetic Background: C57BL/6 * 129SvEvTac
ES Cell Line:
Mutant ES Cell Line:
Model Source: 26826102

M_CC2D1A_10_KO_HM_CC2D1B_KO_HT

Model Type: Genetic
Model Genotype: Homozygous; heterozygous
Mutation: Cc2d1a homozygous/Cc2d1b heterozygous mice were generated by crossing Cc2d1a homozygous with Cc2d1b heterozygous mice. Cc2d1a null mouse line (KO) generated by the Knockout Mouse Project Repository (Project Design ID 49663), with targeted construct containing engrailed 2 splice acceptor (EN2SA) gene-trap allele with bicistronic expression of beta-galactosidase and a neo cassette under the human beta-actin promoter, both elements flanked by FRT sites in intron 11 of Cc2d1a. Cc2d1b heterozygous mice were bred from a Cc2d1b null mouse line (KO) generated by the Knockout Mouse Project Repository (Project ID CDS 34981) as a gene-trap allele inserted in intron 2 of Cc2d1b.
Allele Type: Knockout
Strain of Origin:
Genetic Background: C57BL/6
ES Cell Line:
Mutant ES Cell Line:
Model Source: Knockout Mouse Project Repository

M_CC2D1A_6_KO_HT_CC2D1B_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous; heterozygous
Mutation: Cc2d1a/1b double heterozygous mice were generated by crossing Cc2d1a heterozygotes with Cc2d1b heterozygotes. Cc2d1a heterozygous mice were bred from a Cc2d1a null mouse line (KO) generated by the Knockout Mouse Project Repository (Project Design ID 49663), with targeted construct containing engrailed 2 splice acceptor (EN2SA) gene-trap allele with bicistronic expression of beta-galactosidase and a neo cassette under the human beta-actin promoter, both elements flanked by FRT sites in intron 11 of Cc2d1a. Cc2d1b heterozygous mice were bred from a Cc2d1b null mouse line (KO) generated by the Knockout Mouse Project Repository (Project ID CDS 34981) as a gene-trap allele inserted in intron 2 of Cc2d1b.
Allele Type: Knockout
Strain of Origin:
Genetic Background: C57BL/6
ES Cell Line:
Mutant ES Cell Line:
Model Source: Knockout Mouse Project Repository

M_CC2D1A_7_KO_HM_CC2D1B_KO_HM

Model Type: Genetic
Model Genotype: Homozygous; homozygous
Mutation: Cc2d1a/1b double null mice were generated by crossing Cc2d1a null mouse line (KO) generated by the Knockout Mouse Project Repository (Project Design ID 49663), with targeted construct containing engrailed 2 splice acceptor (EN2SA) gene-trap allele with bicistronic expression of beta-galactosidase and a neo cassette under the human beta-actin promoter, both elements flanked by FRT sites in intron 11 of Cc2d1a, and Cc2d1b null mouse line (KO) generated by the Knockout Mouse Project Repository (Project ID CDS 34981) as a gene-trap allele inserted in intron 2 of Cc2d1b.
Allele Type: Knockout
Strain of Origin:
Genetic Background: C57BL/6
ES Cell Line:
Mutant ES Cell Line:
Model Source: Knockout Mouse Project Repository

M_CC2D1A_8_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Cc2d1a heterozygous mice were generated by crossing Cc2d1a null mouse line (KO) generated by the Knockout Mouse Project Repository (Project Design ID 49663), with targeted construct containing engrailed 2 splice acceptor (EN2SA) gene-trap allele with bicistronic expression of beta-galactosidase and a neo cassette under the human beta-actin promoter, both elements flanked by FRT sites in intron 11 of Cc2d1a, into wildtype C57BL/6 background.
Allele Type: Knockout
Strain of Origin:
Genetic Background: C57BL/6
ES Cell Line:
Mutant ES Cell Line:
Model Source: Knockout Mouse Project Repository

M_CC2D1A_9_KO_HT_CC2D1B_KO_HM

Model Type: Genetic
Model Genotype: Heterozygous; homozygous
Mutation: Cc2d1a heterozygous/Cc2d1b homozygous mice were generated by crossing Cc2d1a heterozygotes with Cc2d1b homozygous mice. Cc2d1a heterozygous mice were bred from a Cc2d1a null mouse line (KO) generated by the Knockout Mouse Project Repository (Project Design ID 49663), with targeted construct containing engrailed 2 splice acceptor (EN2SA) gene-trap allele with bicistronic expression of beta-galactosidase and a neo cassette under the human beta-actin promoter, both elements flanked by FRT sites in intron 11 of Cc2d1a. Cc2d1b null mouse line (KO) generated by the Knockout Mouse Project Repository (Project ID CDS 34981) as a gene-trap allele inserted in intron 2 of Cc2d1b.
Allele Type: Knockout
Strain of Origin:
Genetic Background: C57BL/6
ES Cell Line:
Mutant ES Cell Line:
Model Source: Knockout Mouse Project Repository

M_CC2D1A_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Respiratory system development1
Decreased
Description: Cc2d1a ko pups have severe breathing problems at birth(following cesarean delivery), with 25% of them not breathing at all. in some pups ingested milk is aspirated into the lungs
Exp Paradigm: Histology
 Histology
 P0-p1
Respiratory system development1
Decreased
Description: Cc2d1a ko pups have severe breathing problems at birth(following cesarean delivery), with 25% of them not breathing at all. in some pups ingested milk is aspirated into the lungs
Exp Paradigm: General observations
 General observations
 P0-p1
Mortality/lethality1
Increased
Description: Cc2d1a ko pups die shortly after birth
Exp Paradigm: NA
 Survival analysis
 P0-p1
Mortality/lethality2
 No change
 Survival analysis
 P0
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_CC2D1A_2_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Respiratory system development1
Decreased
Description: Cc2d1a ko pups have severe breathing problems at birth(following cesarean delivery), with 25% of them not breathing at all. in some pups ingested milk is aspirated into the lungs
Exp Paradigm: Histology
 Histology
 P0-p1
Respiratory system development1
Decreased
Description: Cc2d1a ko pups have severe breathing problems at birth(following cesarean delivery), with 25% of them not breathing at all. in some pups ingested milk is aspirated into the lungs
Exp Paradigm: General observations
 General observations
 P0-p1
Mortality/lethality1
Increased
Description: Cc2d1a ko pups die shortly after birth
Exp Paradigm: NA
 Survival analysis
 P0-p1
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_CC2D1A_3_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Respiratory system development1
Decreased
Description: Cc2d1a ko pups have severe breathing problems at birth(following cesarean delivery), with 25% of them not breathing at all. in some pups ingested milk is aspirated into the lungs
Exp Paradigm: Histology
 Histology
 P0-p1
Respiratory system development1
Decreased
Description: Cc2d1a ko pups have severe breathing problems at birth(following cesarean delivery), with 25% of them not breathing at all. in some pups ingested milk is aspirated into the lungs
Exp Paradigm: General observations
 General observations
 P0-p1
Mortality/lethality1
Increased
Description: Cc2d1a ko pups die shortly after birth
Exp Paradigm: NA
 Survival analysis
 P0-p1
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_CC2D1A_4_CKO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Hyperactivity1
Increased
Description: Cc2d1a cko mice have increased total distance traveled in the open field test compared to wt controls
Exp Paradigm: NA
 Open field test
 Adult
Dendritic architecture: spine density1
Decreased
Description: Hippocampal ca1 pyramidal neurons from cc2d1a cko mice have reduced spine density on secondary apical dendrites
Exp Paradigm: NA
 Confocal microscopy
 2-5 months
Dendritic architecture: spine density1
Decreased
Description: A significant reduction in spine density is observed in the trunk and barrel fields of the somatosensory cortex in cc2d1a cko mice
Exp Paradigm: NA
 Confocal microscopy
 NA
Synaptic plasticity: hippocampal ltp1
Decreased
Description: Hippocampal ltp is decreased significantly in cc2d1a cko mice
Exp Paradigm: NA
 NA
 2-5 months
Self grooming: perseveration1
Increased
Description: 30% of cc2d1a cko mice develop severe ulcerative dermatitis between ages of 4-8 months following excessive grooming
Exp Paradigm: NA
 Grooming behavior assessments
 4-8 months
Repetitive digging1
Decreased
Description: Cc2d1a cko mice have a decreased tendency to dig and also have a decreased number of marbles buried compared to wt
Exp Paradigm: NA
 Marble-burying test
 4-8 months
Social approach1
Decreased
Description: Cc2d1a cko mice spend more time exploring the chamber containing the object than the one containing stimulus mouse
Exp Paradigm: NA
 Three-chamber social approach test
 >3 months
Mating behavior1
Decreased
Description: Cc2d1a cko males have reduced nose-to-body contact with females that the authors note maybe indicative of mating behavior
Exp Paradigm: NA
 Reciprocal social interaction test
 >3 months
Ultrasonic vocalization: interaction induced: opposite sex stimulus1
Decreased
Description: Male cc2d1a cko mice have reduced usv rate during male-femal interactions observed over several days
Exp Paradigm: Males only
 Monitoring ultrasonic vocalizations
 >3 months
Anxiety1
Increased
Description: Cc2d1a cko mice spend reduced time in the center of the open field indicating increased anxiety
Exp Paradigm: NA
 Open field test
 >3 months
Object recognition memory1
Decreased
Description: Cc2d1a cko mice do not show a preference for a novel object compared to a familiar object in nort
Exp Paradigm: NA
 Novel object recognition test
 NA
Spatial learning1
Decreased
Description: Cc2d1a cko mice have longer latencies to find the hidden platform compared to wt in the initial days of trial, however their latency reduces (performance improves) significantly over the trial days to catch up with wt
Exp Paradigm: Males only
 Morris water maze test
 >3 months
Mortality/lethality1
 No change
 NA
 Adults
Cognitive flexibility1
 No change
 Morris water maze test
 >3 months
Spatial reference memory1
 No change
 Morris water maze test
 >3 months
Motor strength and endurance1
 No change
 Wire hang test
 Adult
Righting response1
 No change
 Righting reflex test
 Adult
Brain morphology1
 No change
 Histology
 NA
Dendritic architecture: dendritic tree complexity1
 No change
 Golgi-cox staining
 NA
Dendritic architecture: spine density1
 No change
 Confocal microscopy
 NA
Presynaptic function: paired-pulse facilitation1
 No change
 Field potential recordings
 2-5 months
Synaptic plasticity: post-tetanic potentiation (ptp)1
 No change
 Field potential recordings
 2-5 months
Reproductive function1
 No change
 General observations
 Adults
Ear twitch reflex or preyer's reflex1
 No change
 Preyer's reflex test
 Adult
Vision1
 No change
 Morris water maze test
 Adult
Social interaction: opposite sex1
 No change
 Reciprocal social interaction test
 >3 months
 Not Reported: Circadian sleep/wake cycle, Immune response, Maternal behavior, Molecular profile, Physiological parameters, Seizure

M_CC2D1A_5_CKO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Respiratory system development1
Decreased
Description: Cc2d1a ko pups have severe breathing problems at birth(following cesarean delivery), with 25% of them not breathing at all. in some pups ingested milk is aspirated into the lungs
Exp Paradigm: Histology
 Histology
 P0-p1
Respiratory system development1
Decreased
Description: Cc2d1a ko pups have severe breathing problems at birth(following cesarean delivery), with 25% of them not breathing at all. in some pups ingested milk is aspirated into the lungs
Exp Paradigm: General observations
 General observations
 P0-p1
Mortality/lethality1
Increased
Description: Cc2d1a ko pups die shortly after birth
Exp Paradigm: NA
 Survival analysis
 P0-p1
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_CC2D1A_10_KO_HM_CC2D1B_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Mortality/lethality1
Increased
Description: Cc2d1a/cc2d1b double mutants showed reduced actual percentage of birthed pups compared to the expected percentage of birthed pups compared to controls.
Exp Paradigm: NA
 Survival analysis
 P0
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_CC2D1A_6_KO_HT_CC2D1B_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
General locomotor activity: ambulatory activity1
Increased
Description: Cc2d1a/cc2d1b double heterozygous male mutants showed an increase in distance traveled in open field test compared to controls.
Exp Paradigm: NA
 Open field test
 3-4 months
Exploratory activity1
Increased
Description: Cc2d1a/cc2d1b double heterozygous male mutants showed an increase in exploratory activity of objects compared to controls.
Exp Paradigm: NA
 Novel object recognition test
 3-4 months
Anxiety1
Increased
Description: Cc2d1a/cc2d1b double heterozygous male mutants showed a decrease in time spent in the center of open field compared to controls.
Exp Paradigm: NA
 Open field test
 3-4 months
Object recognition memory1
Decreased
Description: Cc2d1a/cc2d1b double heterozygous mutants showed a decrease in time exploring the novel object during the 15-min nort test compared to controls.
Exp Paradigm: NA
 Novel object recognition test
 3-4 months
Spatial reference memory1
Decreased
Description: Cc2d1a/cc2d1b double heterozygous mutants showed a decrease in time spent in the hidden platform quadrant of the probe trial compared to controls. this effect was evident in the first 15 seconds of a 60-second trial but not in the whole trial overall.
Exp Paradigm: Probe task
 Morris water maze test
 3-4 months
Spatial learning1
Decreased
Description: Cc2d1a/cc2d1b double heterozygous male mutants showed a decrease in spatial learning (manifested in increased latency to reach the hidden platform) compared to controls.
Exp Paradigm: Latency to reach hidden platform
 Morris water maze test
 3-4 months
Targeted expression1
Decreased
Description: Cc2d1a/cc2d1b double heterozygous mutants showed only a half dose of cc2d1b protein expression compared to controls.
Exp Paradigm: NA
 Western blot
 3-4 months
Targeted expression1
Decreased
Description: Cc2d1a/cc2d1b double heterozygous mutants showed only a half dose of cc2d1a protein expression compared to controls.
Exp Paradigm: NA
 Western blot
 3-4 months
Mortality/lethality1
 No change
 Survival analysis
 P0
Size/growth1
 No change
 Body weight measurement
 3-4 months
Anxiety1
 No change
 Open field test
 3-4 months
Exploratory activity1
 No change
 Novel object recognition test
 3-4 months
Cognitive flexibility1
 No change
 Morris water maze test
 3-4 months
Spatial learning1
 No change
 Morris water maze test
 3-4 months
Gait1
 No change
 Footprint analysis
 3-4 months
General locomotor activity: ambulatory activity1
 No change
 Open field test
 3-4 months
Grip strength1
 No change
 Wire hang test
 3-4 months
Righting response1
 No change
 Righting reflex test
 3-4 months
Swimming ability1
 No change
 Morris water maze test
 3-4 months
Brain anatomy1
 No change
 Histology
 3-4 months
Brain size1
 No change
 Histology
 3-4 months
Reproductive function1
 No change
 General observations
 3-4 months
Self scratching1
 No change
 General observations
 3-4 months
Pain or nociception1
 No change
 Tail pinch test
 3-4 months
Visual placing reflex1
 No change
 Visual placing test
 3-4 months
Social approach1
 No change
 Three-chamber social approach test
 3-4 months
 Not Reported: Circadian sleep/wake cycle, Communications, Immune response, Maternal behavior, Neurophysiology, Physiological parameters, Seizure

M_CC2D1A_7_KO_HM_CC2D1B_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Mortality/lethality: embryonic1
Increased
Description: Cc2d1a/cc2d1b double knockout mutants showed increased emryonic lethality compared to controls. all mutants died mid-gestation before e11.5, when the embryo was found almost entirely absent.
Exp Paradigm: NA
 Survival analysis
 E11.5
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_CC2D1A_8_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Mortality/lethality1
 No change
 Survival analysis
 P0
Size/growth1
 No change
 Body weight measurement
 3-4 months
Anxiety1
 No change
 Open field test
 3-4 months
Spatial learning1
 No change
 Morris water maze test
 3-4 months
Spatial reference memory1
 No change
 Morris water maze test
 3-4 months
Gait1
 No change
 Footprint analysis
 3-4 months
General locomotor activity: ambulatory activity1
 No change
 Open field test
 3-4 months
Grip strength1
 No change
 Wire hang test
 3-4 months
Righting response1
 No change
 Righting reflex test
 3-4 months
Pain or nociception1
 No change
 Tail pinch test
 3-4 months
Visual placing reflex1
 No change
 Visual placing test
 3-4 months
 Not Reported: Circadian sleep/wake cycle, Communications, Immune response, Maternal behavior, Molecular profile, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Social behavior

M_CC2D1A_9_KO_HT_CC2D1B_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Mortality/lethality1
 No change
 Survival analysis
 P0
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
CDC37 cell division cycle 37 11140 Q16543 Y2H
Vinayagam A , et al. 2011
CHMP4A charged multivesicular body protein 4A 29082 Q9BY43 Y2H
Tsang HT , et al. 2006
CHMP4C charged multivesicular body protein 4C 92421 Q96CF2 Y2H
Tsang HT , et al. 2006
CRYAB Alpha-crystallin B chain 1410 P02511 IP; LC-MS/MS
Huttlin EL , et al. 2015
Dlg4 Postsynaptic density protein 95 13385 Q62108 IP/WB; GST; SPOT synthesis/peptide array
Peptide microarray
Arbuckle MI , et al. 2010
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP; RNA immunoprecipitation (RIP)
Ascano M Jr , et al. 2012
MRAP2 melanocortin 2 receptor accessory protein 2 112609 Q96G30 IP; LC-MS/MS
Huttlin EL , et al. 2015
NCOA2 nuclear receptor coactivator 2 10499 Q15596 LC/ESI/MS/MS
Jung SY , et al. 2005
NRF1 nuclear respiratory factor 1 4899 Q16656 ChIP
Satoh J , et al. 2013
SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 6505 P43005 IP; LC-MS/MS
Huttlin EL , et al. 2015
TSPAN3 tetraspanin 3 10099 O60637 IP; LC-MS/MS
Huttlin EL , et al. 2015
UBC ubiquitin C 7316 P63279 COFRADIC; LC-MS/MS
Stes E , et al. 2014
Champ4b charged multivesicular body protein 4B 75608 Q9D8B3 Proximity ligation assay
Drusenheimer N , et al. 2016

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