Phenotypes Associated with This Genotype

Genotype
MGI:6316985

• Allelic Composition: Sacs^{tm1(NCOM)Mfgc}/Sacs^{tm1(NCOM)Mfgc}
• Genetic Background: Not Specified

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

cellular

abnormal mitochondrial physiology ( J:182034 )

• mitochondrial dysfunction in Purkinje cells

nervous system

Purkinje cell degeneration ( J:182034 )

• in the cerebellum at 200 days

abnormal Purkinje cell dendrite morphology ( J:182034 )

• thicker dendrites and tortuous dendritic fields at 120 days

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Charlevoix-Saguenay spastic ataxia		DOID:0050946	OMIM:270550	J:182034