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Allele Symbol Allele Name Allele ID |
Sh3rf2tm1Zhxu targeted mutation 1, Zhiheng Xu MGI:6279851 |
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| Summary |
3 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 12.5% of males die during postnatal growth
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• mice are born at decreased birth rates
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• reduced growth rate in some males after birth
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 10.8% of males die during postnatal growth
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• reduced growth in some males after birth
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• mice show hyperactive behaviors in home cages such as continuous jumping or fighting with littermates
• mice jump more frequently when kept alone in home cages or novel cages without cage lids
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• increase in digging behavior in novel cages
• mice bury more marbles than wild-type mice, indicating compulsive digging in a novel environment
• however, mice show a non-significant increase in repetitive grooming
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• mice show decreased nesting score in the nesting building assay
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• in the 3-chamber social interaction test, mice explore the novel social partner less frequently than wild-type mice
• mice show reduced social interaction with a stimulus mouse during a free dyadic encounter, with a few mice running away from the novel mouse
• however, mice show normal responses to both social and non-social cues indicting normal olfactory function
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• in the 3-chamber social interaction test, mice do not show a preference to explore stranger mouse 2 compared with stranger 1, indicating impaired social novelty recognition
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• P8 pups emit shorter durations of isolation-induced ultrasonic vocalizations
• adult males emit shorter durations of ultrasonic vocalizations when allowed to interact with a novel female mouse
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• young mice exhibit spontaneous seizures, with several mice showing lethal seizures
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• young mice exhibit spontaneous seizures, with several mice showing lethal seizures
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• hippocampal neurons show altered membrane properties, with right hippocampus neurons having higher membrane resistance, smaller capacitance and lower after-hyperpolarization than wild-type neurons while the left hippocampal neurons showing no difference in membrane properties but a lower spike frequency
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• right hippocampal CA1 pyramidal neurons exhibit smaller after-hyperpolarization
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• pyramidal neurons show a reduced frequency of mEPSCs in the left hippocampus and increased frequency of mEPSCs in the right hippocampus
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| autism spectrum disorder | DOID:0060041 | J:270945 | ||
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• marker analysis indicates an asymmetric enrichment of NMDA and AMPA receptors in the left and right postsynaptic density of hippocampi
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• mice show decreased spine volumes in secondary basal dendrites of left hippocampal CA1 pyramidal neurons, but not in right hemisphere CA1 pyramidal neurons; mushroom, stubby, and filopodia spines all show a decrease in spine volume
• volumes of mushroom, stubby, and filopdia spines are also decreased in apical dendrites of the left hippocampus, while only filopodia spine volumes are reduced in the right hippocampus
• hippocampal neurons from E18 mutants grown in culture show a decreased ratio of stubby spine but an increased ratio of filopodia spine in the secondary dendrites and decreased spine density and volume
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• mice show an increased ratio of stubby spines but a decreased ratio of long thin spines in the bilateral hippocampus, indicating an increase in the density of mature spines
• however, no difference in spine density is seen in apical dendrites
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• CA1 pyramidal neurons show reduced secondary dendritic spine volume in the left hippocampus but not right hippocampus
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| autism spectrum disorder | DOID:0060041 | J:270945 | ||
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 05/14/2024 MGI 6.23 |
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