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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Shank3em1Hzo
endonuclease-mediated mutation 1, Huda Y Zoghbi
MGI:6259433
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Shank3em1Hzo/Shank3em1Hzo involves: C57BL/6J MGI:6715314


Genotype
MGI:6715314
hm1
Allelic
Composition
Shank3em1Hzo/Shank3em1Hzo
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Shank3em1Hzo mutation (1 available); any Shank3 mutation (81 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• in a resident-intruder assay, mice show an increase in sniffing/allogrooming behavior; further analysis with submissive strain of mice as intruders shows that mutant mice show increased allogrooming behavior on intruders
• however, mice show no defects in the open field assay, on the rotarod, anxiety in the elevated plus maze, self-grooming, marble burying, or in acoustic startle and prepulse inhibition
• in a resident-intruder assay, mice show an increase in sniffing/allogrooming behavior indicating abnormal active social behavior; further analysis with submissive strain of mice as intruders shows that mutant mice show increased allogrooming behavior on intruders
• in the tube test of social dominance, both males and females win the matches against wild-type mice, indicating increased social dominance
• however, no difference in threatening and aggressive behavior are seen and mice show normal sociability, with mice showing preference for a stranger mouse to a novel object as in wild-type mice
• pups emit fewer ultrasonic vocalization (USV) on P2, P4, and P6 and continue to emit USVs on P14, a time when wild-type pups stop

nervous system
• mice exhibit a reduction in dendritic spine density of medium spiny neurons in the dorsal striatum
• however, no reduction in hippocampal CA1 pyramidal neuron spine density is seen
• medium spiny neurons in the dorsal striatum show reduced miniature excitatory postsynaptic currents (mEPSCs) frequency and amplitude

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autism spectrum disorder DOID:0060041 J:305052





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last database update
08/02/2024
MGI 6.24
The Jackson Laboratory