Htt^tm2.1Pfs
Targeted Allele Detail

Summary

• Symbol: Htt^tm2.1Pfs
• Name: huntingtin; targeted mutation 2.1, Peggy F Shelbourne
• MGI ID: MGI:2177753
• Synonyms: Hdh6/Q72
• Gene: Htt Location: Chr5:34919084-35069878 bp, + strand Genetic Position: Chr5, 17.92 cM
• Alliance: Htt^tm2.1Pfs page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:54906
• Parent Cell Line: JM-1 (ES Cell)
• Strain of Origin: 129X1/SvJ

Mutation description

• Allele Type: Targeted
• Mutations: Insertion, Nucleotide repeat expansion
• Mutation details: This allele carries 72 CAG repeat units in the first exon of the endogenous gene. A loxP flanked neomycin selection cassette in the first intron was removed by Cre mediated recombination in the final allele. (J:54906)

Disease models

Expression

In Structures Affected by this Mutation:

1 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:54906 Shelbourne PF, et al., A Huntington's disease CAG expansion at the murine Hdh locus is unstable and associated with behavioural abnormalities in mice. Hum Mol Genet. 1999 May;8(5):763-74
• All: 8 reference(s)