Phenotypes Associated with This Genotype

Genotype
MGI:3698041

• Allelic Composition: Htt^tm5Mem/Htt⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

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

nervous system

abnormal striatum morphology ( J:60937 )

abnormal medium spiny neuron morphology ( J:60937 )

• exhibit relocation of the mutant protein to the nucleus in medium sized spiny neurons and much later, the formation of morphologic nuclear inclusions and insoluble aggregate that are hallmarks of Huntington's Disease in humans, although at a slower rate than in homozygotes

neuronal intranuclear inclusions ( J:60937 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Huntington's disease		DOID:12858	OMIM:143100	J:60937