Phenotypes Associated with This Genotype

Genotype
MGI:7466182

• Allelic Composition: Vps35^tm1.1Hlw/Vps35⁺
• Genetic Background: involves: 129S/SvEv * C57BL/6J

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

behavior/neurological

decreased locomotor activity ( J:329507 )

• at age 16 months

• normal at age 12 months

bradykinesia ( J:329507 )

• at age 16 months

• normal at age 12 months

slow movement ( J:329507 )

• at age 16 months

• normal at age 12 months

nervous system

nervous system phenotype ( J:329507 )

N • normal number of neurons in striatum and cerebral cortex at age 16 months

abnormal substantia nigra pars compacta morphology ( J:329507 )

• reduced number of tyrosine hydroxylase (TH)-positive dopaminergic neurons at age 16 months

• reduced number of tyrosine hydroxylase (TH)-positive dopaminergic nigrostriatal terminals at age 16 months

• normal number of tyrosine hydroxylase (TH)-positive dopaminergic neurons at age 12 months

cellular

abnormal mitochondrial shape ( J:329507 )

• truncated, shortened and fragmented in (TH)-positive dopaminergic substantia nigra pars compacta neurons at age 16 months

decreased mitochondrial size ( J:329507 )

• in (TH)-positive dopaminergic substantia nigra pars compacta neurons at age 16 months

oxidative stress ( J:329507 )

• in mitochondria of (TH)-positive dopaminergic substantia nigra pars compacta neurons at age 16 months

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Parkinson's disease 17		DOID:0060897	OMIM:614203	J:329507