Phenotypes Associated with This Genotype

Genotype
MGI:3573928

• Allelic Composition: Htt^tm1Detl/Htt⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

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

behavior/neurological

behavior/neurological phenotype ( J:67074 )

N • during tail suspension, a similar % (<20%) of wild-type and heterozygous mutant mice tend to clasp

impaired limb coordination ( J:67074 )

• at >40 weeks of age, heterozygotes show a late-onset increase in the average distance between front and hind paws ('overlap' distance) relative to wild-type mice

decreased locomotor activity ( J:67074 )

• heterozygotes are viable, fertile and developmentally normal; however, 1 out of 10 heterozygotes remains inactive upon removal of the cage lid whereas all wild-type mice show exploratory activity by walking around the cage

growth/size/body

decreased body size ( J:67074 )

• at 34 weeks of age, some heterozygotes exhibit an extreme size reduction relative to wild-type mice

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:67074 )

N • heterozygotes display normal blood glucose levels relative to wild-type mice

nervous system

nervous system phenotype ( J:67074 )

N • heterozygotes display no extreme reductions in major brain regions up to 90 weeks of age

N • no reactive gliosis or formation of neuronal intranuclear inclusions is observed

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Huntington's disease		DOID:12858	OMIM:143100	J:67074