Phenotypes Associated with This Genotype

Genotype
MGI:4939781

• Allelic Composition: Prkn^tm1Ccs/Prkn^tm1Ccs
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

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

cellular

abnormal mitochondrial morphology ( J:168847 )

• almost all mesencephalic glial cell types exhibit a higher number of structurally altered mitochondria, showing disintegration and reduction of mitochondrial cristae, mitochondrial enlargement and formation of protrusions or disruption of the outer membrane

• mitochondrial damage is noticeable at 16 days of age in all mesencephalic cell types and increases 4-8 fold in the next few weeks

• mitochondrial alterations are higher in oligodendrocytes than in astrocytes or microglia

nervous system

abnormal CNS glial cell morphology ( J:168847 )

• almost all mesencephalic glial cell types exhibit a higher number of structurally altered mitochondria

• mitochondrial alterations are higher in oligodendrocytes than in astrocytes or microglia

• mesencephalic glial cells exhibit a higher (2.5-7-fold) percentage of damaged mitochondria than in mesencephalic neurons at 3 and 12-15 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Parkinson's disease 2		DOID:0060368	OMIM:600116	J:168847