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Phenotypes Associated with This Genotype
involves: 129S1/Sv * 129X1/SvJ * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htttm4Mem mutation (2 available); any Htt mutation (36 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• 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
• 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
• QUIN and 3-HK levels are increased in the cortex beginning at 15 months of age, as seen in patients with Huntington disease
• observed at 12-15 months
• 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

• 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

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.14
The Jackson Laboratory