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Phenotypes Associated with This Genotype
Genotype
MGI:6390918
Allelic
Composition
Chd8tm1.1Csbd/Chd8+
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chd8tm1.1Csbd mutation (1 available); any Chd8 mutation (67 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• adult males, but not females, show decreased center time in the open-field test under bright light
• adult males, but not females, exhibit enhanced self-grooming when isolated for 3 days, but normal self-grooming and other repetitive behaviors when housed together
• adult males, but not females, show moderate hypoactivity in the open-field test under bright light
• however, adult males show no abnormalities in three-chamber and dyadic social interaction, nest building, and sleeping, anxiety/depression-like behavior, learning, and memory, olfaction, or motor coordination
• in the maternal-homing test, male P19 juveniles, but not females, spend more time with their reunited mothers, suggesting enhanced mother-attachment behavior
• however, juveniles show normal open-field locomotion, juvenile play, and no differences in repetitive behaviors
• male P5-11 pups, but not females, emit ultrasonic vocalizations more frequently, rapidly, and for longer durations than wild-type pups when separated from their mothers
• however, adult males show no abnormalities in ultrasonic vocalizations

nervous system
• females, but not males, show an increase in local brain volume in regions including the anterior cingulate, anterior commissure, and cerebellum
• males show enhanced excitatory, but normal inhibitory, neuronal firing and enhanced burst firing in the hippocampal CA1 region
• females show enhanced inhibitory, but normal excitatory, neuronal firing and a moderate decrease in mean burst duration in the hippocampal CA1 region
• analysis of c-fos levels in the brain indicate that neuronal activity is suppressed in the female brain under baseline conditions, and following separation from the mother, becomes comparable to that seen in wild-type mice
• analysis of c-fos levels in the brain indicate that male brain shows normal baseline activity but displays excessive neuronal excitation in response to maternal separation
• the frequency and amplitude of miniature inhibitory postsynaptic currents are decreased in male CA1 pyramidal neurons, whereas the frequency, but not amplitude, are increased in females
• however, spontaneous inhibitory postsynaptic currents (sIPSCs) are normal in male and female neurons, excitatory synaptic transmission in CA1 neurons and intrinsic neural excitability are normal, and in the mPFC, male and female layer II/III pyramidal neurons show normal synaptic transmission and intrinsic excitability

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autism spectrum disorder DOID:0060041 J:267025


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
10/12/2021
MGI 6.17
The Jackson Laboratory