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Phenotypes Associated with This Genotype
Genotype
MGI:5698523
Allelic
Composition
Htttm2Detl/Htt+
Genetic
Background
B6J.129P2-Htttm2Detl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htttm2Detl mutation (7 available); any Htt mutation (36 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• mice with about 250 CAG repeats exhibit increased proliferation of microglia in the striatum
• mice with about 250 CAG repeats show a reduction in the striatum volume by 6 months of age but not at 3 months
• striatal metabolites are altered by 9 months of age in mice with about 250 CAG repeats, with lower levels of N-acetylaspartate at 9 months, and lower levels of gamma-aminobutyric acid (GABA), glutamate, NAA, creatine + PCr and increased levels of glutamine and taurine at 12 months of age
• mice with about 250 CAG repeats show a reduction in the neocortex volume by 6 months of age but not at 3 months
• mice backcrossed to C57BL/6J for 8 generations yields mice with about 250 CAG repeats which show acceleration of brain atrophy (striatum and neocortex) compared to mice with 150 or 200 CAG repeats that is most robust between 2 and 6 months of age
• mice with about 250 CAG repeats have decreased numbers of mature oligodendrocytes in the brain at P14
• mice with about 250 CAG repeats exhibit numerous smaller axons that are hypomyelinated with increased G-ratios (diameter of axon/outer diameter of the myelinaged fiber) in the corpus callosum at 12 months of age, indicating thinner myelin sheaths
• mice with about 250 CAG repeats show nuclear progressive accumulation of mutant HTT aggregates from 6 to 12 months of age
• mice with about 250 CAG repeats exhibit enhanced proliferation of oligodendrocyte precursor cells in the corpus callosum and striatum at 9 and 12 months of age
• however, the number of oligodendrocyte precursor cells is normal
• primary oligodendrocyte precursor cells from P6 mice with about 250 CAG repeats exhibit an extended S-phase
• mice with about 250 CAG repeats show developmental delay of myelination, with lower levels of all isoforms of myelin basic protein and myelin oligodendrocyte glycoprotein in the striatum at P14
• mice with about 250 CAG repeats show fewer myelinated axons in the corpus callosum at P14

growth/size/body
• mice with about 250 CAG repeats exhibit lower body weight; they gain body weight normally up to 4 months, stop gaining weight and then lose weight

behavior/neurological
• mice with about 250 CAG repeats exhibit a motor deficit on the balance beam at 6 months of age, spending more time to cross the beam; motor deficits progress with age

hematopoietic system
• mice with about 250 CAG repeats exhibit increased proliferation of microglia in the striatum

immune system
• mice with about 250 CAG repeats exhibit increased proliferation of microglia in the striatum

homeostasis/metabolism
• mice with about 250 CAG repeats show increased levels of taurine in the striatum at 12 months of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Huntington's disease DOID:12858 OMIM:143100
J:220868


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
10/15/2019
MGI 6.14
The Jackson Laboratory