Mouse Genome Informatics
hm
    Vps13atm1Asan/Vps13atm1Asan
involves: 129S/SvEv
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
behavior/neurological
• 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 IDRef(s)
Choreoacanthocytosis; CHAC 200150 J:96243