Htt^tm8Mem
Targeted Allele Detail

Summary

• Symbol: Htt^tm8Mem
• Name: huntingtin; targeted mutation 8, Marcy E MacDonald
• MGI ID: MGI:3697907
• Synonyms: Hdh^neoQ111
• Gene: Htt Location: Chr5:34919084-35069878 bp, + strand Genetic Position: Chr5, 17.92 cM
• Alliance: Htt^tm8Mem page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:72915
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutation: Nucleotide repeat expansion
• Mutation details: This allele carries 109 CAG repeat units, with 111 glutamines, in the first exon of the endogenous gene and a floxed neo cassette in the promoter. It is a hypomorphic allele, expressing reduced levels of the mutant protein. (J:52440, J:72915)

Disease models

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Htt Mutation: 179 strains or lines available

References

• Original: J:72915 Auerbach W, et al., The HD mutation causes progressive lethal neurological disease in mice expressing reduced levels of huntingtin. Hum Mol Genet. 2001 Oct 15;10(22):2515-23
• All: 6 reference(s)