Phenotypes Associated with This Genotype

Genotype
MGI:3573789

• Allelic Composition: Vps13a^tm1Asan/Vps13a^tm1Asan
• Genetic Background: involves: 129S/SvEv * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

hematopoietic system

acanthocytosis ( J:96243 )

• some acanthocytes are seen

anisopoikilocytosis ( J:96243 )

• heterogeneity in the size and shape of erythrocytes

increased erythrocyte osmotic fragility ( J:96243 )

• erythrocytes from mutant mice showed increased osmotic fragility

behavior/neurological

impaired coordination ( J:96243 )

• on rotarod test, the mean latency to fall off was shorter in mutant mice

abnormal gait ( J:96243 )

short stride length ( J:96243 )

• on footprint test, mutant mice showed short steps and pattern significantly different from wild-type controls

decreased locomotor activity ( J:96243 )

• total moving distance in the open field was decreased

abnormal social investigation ( J:96243 )

• in the social interaction test, mutant mice showed less contact time and stayed in the edge area of the field

nervous system

decreased striatum size ( J:96243 )

• the striatum : whole brain ratio was significantly smaller in the mutant mice

loss of basal ganglia neurons ( J:96243 )

• more TUNEL-positive apoptotic cells are found in the striatum of mutant mice

gliosis ( J:96243 )

• detected in the striatum and in the pars reticulata of the substantia nigra in some mutant mice

abnormal synaptic neurotransmitter level ( J:96243 )

• homovanillic acid (HVA, a dopamine metabolite) was significantly decreased in the brain portion including the midbrain, thalamus and hypothalamus

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
choreaacanthocytosis		DOID:0050766	OMIM:200150	J:96243