Phenotypes Associated with This Genotype

Genotype
MGI:2671158

• Allelic Composition: Tg(HD82Gln)81Gschi/0
• Genetic Background: involves: C3H/HeJ * C57BL/6

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

mortality/aging

premature death ( J:53797 )

• lifespan is approximately 5-6 months

behavior/neurological

poor grooming ( J:53797 )

• endstage mice exhibit poor grooming

limb grasping ( J:53797 )

tremors ( J:53797 )

impaired coordination ( J:53797 )

• impaired performance on the rotarod

abnormal gait ( J:53797 )

bradykinesia ( J:53797 )

nervous system

abnormal hypothalamus morphology ( J:84682 )

• degeneration of hypothalamic neurons

neuronal intranuclear inclusions ( J:53797 )

• nuclear inclusions are observed in the cortex and caudate by immunocytochemistry

neurodegeneration ( J:84682 )

• degeneration of neurons in various hypothalamic areas including the lateral hypothalamus, the ventromedial hypothalamic nucleus, and the and the paraventricular nuclei

growth/size/body

decreased body size ( J:53797 )

• in the last 4 weeks of life, mutants are much smaller than controls

decreased body weight ( J:53797 )

• beginning at 2 months of age, mutants fail to gain weight

• weight loss is observed in the last 4-6 weeks before death

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Huntington's disease		DOID:12858	OMIM:143100	J:53797