Htt^tm1.1Pfs
Targeted Allele Detail

Summary

• Symbol: Htt^tm1.1Pfs
• Name: huntingtin; targeted mutation 1.1, Peggy F Shelbourne
• MGI ID: MGI:2177751
• Synonyms: HDH4/Q80
• Gene: Htt Location: Chr5:34919084-35069878 bp, + strand Genetic Position: Chr5, 17.92 cM
• Alliance: Htt^tm1.1Pfs page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:54906
• Parent Cell Line: RF8 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted
• Mutation: Insertion
• Mutation details: This allele carries 80 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 Mice Carrying this Mutation:	13 RNA-Seq or microarray experiment(s)
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: 1 strain available Cell Lines: 0 lines available
• Carrying any Htt Mutation: 179 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: 11 reference(s)