Phenotypes Associated with This Genotype

Genotype
MGI:5304801

• Allelic Composition: Tg(Prnp-HTT*82Q)52Caro/0
• Genetic Background: involves: C3H * C57BL/6

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

mortality/aging

premature death ( J:179364 )

• mutants die around 1 year of age

growth/size/body

decreased body size ( J:179364 )

• signs of deterioration become apparent in males at 6 months of age

weight loss ( J:179364 )

• weight loss begins at around 4 months of age and continues progressively with disease

behavior/neurological

abnormal associative learning ( J:179364 )

• at 8 months of age, mutants exhibit signs of cognitive impairment in the fear conditioning paradigm

impaired contextual conditioning behavior ( J:179364 )

• on the second day of a fear conditioning paradigm, mutants exhibit a reduction in the amount of time spent freezing compared to controls, indicating impaired contextual memory

impaired cued conditioning behavior ( J:179364 )

• on the third day of a fear conditioning paradigm, mutants show an even larger deficit in cue-dependent memory

poor grooming ( J:179364 )

limb grasping ( J:179364 )

• mutants exhibit frequent clasping when suspended by tail

impaired coordination ( J:179364 )

• mutants exhibit impaired rotarod performance beginning at 4 months of age

hunched posture ( J:179364 )

• toward end stage of disease, mutants have a hunched posture

decreased locomotor activity ( J:179364 )

• toward end stage of disease, mutants become hypoactive and are immobile

hyperactivity ( J:179364 )

• mutants become hyperactive after 5 months of age, which is even more pronounced at 7 months of age

nervous system

decreased brain size ( J:179364 )

• at 8 months of age, mutants exhibit a 15.35% decrease in whole brain size indicating brain atrophy

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Huntington's disease		DOID:12858	OMIM:143100	J:179364