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Phenotypes Associated with This Genotype
involves: 129S/SvEv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Vps13atm1Asan mutation (0 available); any Vps13a mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
• on rotarod test, the mean latency to fall off was shorter in mutant mice
• total moving distance in the open field was decreased
• on footprint test, mutant mice showed short steps and pattern significantly different from wild-type controls
• in the social interaction test, mutant mice showed less contact time and stayed in the edge area of the field

hematopoietic system
• some acanthocytes are seen
• heterogeneity in the size and shape of erythrocytes
• erythrocytes from mutant mice showed increased osmotic fragility

nervous system
• the striatum : whole brain ratio was significantly smaller in the mutant mice
• more TUNEL-positive apoptotic cells are found in the striatum of mutant mice
• detected in the striatum and in the pars reticulata of the substantia nigra in some mutant mice

Mouse Models of Human Disease
OMIM ID Ref(s)
Choreoacanthocytosis; CHAC 200150 J:96243

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.01
The Jackson Laboratory