Htt^tm2Detl
Targeted Allele Detail

Summary

• Symbol: Htt^tm2Detl
• Name: huntingtin; targeted mutation 2, Peter J Detloff
• MGI ID: MGI:2177757
• Synonyms: CHL2, Hdh150Q, Hdh200Q, Hdh^(CAG)150, HdhCAG150, Hdh^Q150, HdhQ150, HdhQ200
• Gene: Htt Location: Chr5:34919084-35069878 bp, + strand Genetic Position: Chr5, 17.92 cM
• Alliance: Htt^tm2Detl page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:67074
• Parent Cell Line: HM-1 (ES Cell)
• Strain of Origin: 129P2/OlaHsd-Hprt1^b-m3

Mutation description

• Allele Type: Targeted
• Mutation: Insertion
• Mutation details: This allele carries 150 CAG repeat units in the first exon of the endogenous gene. CAG repeat numbers in this gene are highly unstable. Mice carrying this allele may have more or fewer repeats than stated in the original description. (J:67074)

Disease models

Expression

In Mice Carrying this Mutation:	12 assay results 4 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	5 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 7 strains available Cell Lines: 0 lines available
• Carrying any Htt Mutation: 178 strains or lines available

References

• Original: J:67074 Lin CH, et al., Neurological abnormalities in a knock-in mouse model of Huntington's disease. Hum Mol Genet. 2001 Jan 15;10(2):137-44
• All: 69 reference(s)