Phenotypes associated with this allele

• Allele Symbol: Vps13a^tm1Asan
• Allele Name: targeted mutation 1, Akira Sano
• Allele ID: MGI:3531502
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Vps13a^tm1Asan/Vps13a^tm1Asan	129S6.129S(B6)-Vps13a^tm1Asan	MGI:6287632
hm2	Vps13a^tm1Asan/Vps13a^tm1Asan	involves: 129S/SvEv * C57BL/6J	MGI:3573789

Genotype
MGI:6287632

hm1

• Allelic Composition: Vps13a^tm1Asan/Vps13a^tm1Asan
• Genetic Background: 129S6.129S(B6)-Vps13a^tm1Asan

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

reproductive system

reproductive system phenotype ( J:270605 )

♂N • mutant males exhibit no differences in sperm adenosine 5'-triphosphate (ATP) concentration, mitochondrial membrane potential, sperm count or sexual activity (as determined in odor-sniffing and sexual behavior tests) relative to wild-type males

abnormal sperm mitochondrial sheath morphology ( J:270605 )

♂ • TEM analysis of the sperm midpiece revealed dysmorphic mitochondrial structures with significant size variability, an irregular sequence, and with lower densities in the matrix and membrane

asthenozoospermia ( J:270605 )

♂ • mutant sperm show a significantly higher motility-failure rate than wild-type sperm, indicating diminished sperm motility

male infertility ( J:270605 )

♂ • no pregnancy is observed when mutant males are mated with female wild-types

cellular

abnormal sperm mitochondrial sheath morphology ( J:270605 )

♂ • TEM analysis of the sperm midpiece revealed dysmorphic mitochondrial structures with significant size variability, an irregular sequence, and with lower densities in the matrix and membrane

asthenozoospermia ( J:270605 )

♂ • mutant sperm show a significantly higher motility-failure rate than wild-type sperm, indicating diminished sperm motility

Genotype
MGI:3573789

hm2

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

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