Phenotypes Associated with This Genotype

Genotype
MGI:5286128

• Allelic Composition: Tg(Prnp-HTT*82Q,KRT14-EGFP)C63Dbo/0
• Genetic Background: Not Specified

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

mortality/aging

premature death ( J:173756 )

• mice die by 8 months of age when they are unable to acquire food or water

• average endpoint is 247 days

nervous system

decreased brain size ( J:173756 )

decreased brain weight ( J:173756 )

• by half at end-stage

abnormal striatum morphology ( J:173756 )

• contains large inclusions

abnormal hippocampus morphology ( J:173756 )

• profound hippocampal degeneration in the CA1 and CA2 regions with partial degeneration in the CA3 region

abnormal cerebellar granule cell morphology ( J:173756 )

• contain Htt+ cytoplasmic inclusions

decreased cerebellar granule cell number ( J:173756 )

astrocytosis ( J:173756 )

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:173756 )

• mice exhibit dyskinesia with ataxia-like movement compared with control mice

• beginning at 4 months and worsening to end-stage by 8 months of age

ataxia ( J:173756 )

• at 4 months

impaired coordination ( J:173756 )

• in mice displaying dyskinesia on a rotarod

• at 3 months, mice exhibit a moderate rotarod deficit that progresses to severe by 6 months of age compared with control mice

• aged mice exhibit a 10- to 50-fold deficit in latency to fall on a rotarod compared with control mice

growth/size/body

decreased body weight ( J:173756 )

• by one third at end-stage

homeostasis/metabolism

dehydration ( J:173756 )

• at end-stage

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Huntington's disease		DOID:12858	OMIM:143100	J:173756