Htt^tm7Mem
Targeted Allele Detail

Summary

• Symbol: Htt^tm7Mem
• Name: huntingtin; targeted mutation 7, Marcy E MacDonald
• MGI ID: MGI:3697906
• Synonyms: Hdh^neoQ50
• Gene: Htt Location: Chr5:34919084-35069878 bp, + strand Genetic Position: Chr5, 17.92 cM
• Alliance: Htt^tm7Mem page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:44391
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutation: Insertion
• Mutation details: This allele carries 48 CAG repeat units, with 50 glutamines, in the first exon of the endogeous gene and a floxed neo cassette in the promoter. It is a hypomorphic allele, expressing reduced levels of the mutant protein. (J:44391)

Disease models

Expression

In Structures Affected by this Mutation:

20 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: 178 strains or lines available

References

• Original: J:44391 White JK, et al., Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion. Nat Genet. 1997 Dec;17(4):404-10
• All: 5 reference(s)