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Phenotypes Associated with This Genotype
involves: C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(HDexon1)62Gpb mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• reduction in brain weight by 5 weeks
• immunoreactive htt is detected in the striatum at 4.5 weeks
• immunoreactive htt is detected in the cortex beginning at 3.5 weeks
• striatal neurons have prominent and frequent indentations of the nuclear membrane and an apparent increase in the clustering and number of nuclear pores by 10-12 weeks of age
• inclusions are observed within neurons of cerebral cortex, striatum, cerebellum, spinal cord and to a much lesser degree in the hippocampus, thalamus, globus pallidus and substantia nigra
• inclusions appear in the cerebral cortex before they can be detected in the striatum
• inclusions are ubiquitinated by 5-6 weeks and can be detected by ultrastructural analysis by 8 weeks
• htt immunoreactive inclusions are seen in approximately 20% of neurons
• in the striatum, ultrastructural analysis of inclusions reveals a prominent, roughly circular, pale structure
• inclusions are granular with occasional filamentous structures around the periphery; they are larger than the nucleolus and occupy 1% of nuclear volume

• progressive loss of body weight

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

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