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Phenotypes Associated with This Genotype
Genotype
MGI:6430623
Allelic
Composition
Sh3rf2tm1Zhxu/Sh3rf2+
Genetic
Background
C57BL/6-Sh3rf2tm1Zhxu
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sh3rf2tm1Zhxu mutation (0 available); any Sh3rf2 mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 10.8% of males die during postnatal growth

growth/size/body
• reduced growth in some males after birth

behavior/neurological
• 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
• 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
• mice show decreased nesting score in the nesting building assay
• 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
• 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
• 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
• young mice exhibit spontaneous seizures, with several mice showing lethal seizures

nervous system
• young mice exhibit spontaneous seizures, with several mice showing lethal seizures
• 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
• right hippocampal CA1 pyramidal neurons exhibit smaller after-hyperpolarization
• pyramidal neurons show a reduced frequency of mEPSCs in the left hippocampus and increased frequency of mEPSCs in the right hippocampus

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autism spectrum disorder DOID:0060041 J:270945


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
12/10/2024
MGI 6.24
The Jackson Laboratory