Phenotypes Associated with This Genotype

Genotype
MGI:3698039

• Allelic Composition: Htt^tm4Mem/Htt^tm4Mem
• 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:111237 )

• the levels of both the endogenous excitotoxin quinolinic acid (QUIN) and its bioprecursor, 3-hydroxykynurenine (3-HK) are increased in the striatum beginning at 15 months of age, similarly to that seen in Huntington disease patients

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 (at 12-15 months) and insoluble aggregate that are hallmarks of Huntington's Disease in humans

abnormal cerebral cortex morphology ( J:111237 )

• QUIN and 3-HK levels are increased in the cortex beginning at 15 months of age, as seen in patients with Huntington disease

neuronal intranuclear inclusions ( J:60937 )

• observed at 12-15 months

abnormal nervous system physiology ( J:99425 )

• between 5 and 12 months of age, striatal mitochondria develops resistance to calcium, becoming equally sensitive to calcium as cortical mitochondria, whereas in wild-type, striatal mitochondria is more sensitive to calcium than cortical mitochondria

behavior/neurological

limb grasping ( J:99425 )

• observe clasping behavior is some mutants by one year of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Huntington's disease		DOID:12858	OMIM:143100	J:60937 , J:99425 , J:111237