Htt^tm1Mfc
Targeted Allele Detail

Summary

• Symbol: Htt^tm1Mfc
• Name: huntingtin; targeted mutation 1, Marie-Francoise Chesselet
• MGI ID: MGI:2675580
• Synonyms: 140-CAG KI, CAG140, CAG140 KI, Hdh^Q140, Q140, Q175 KI, zQ175
• Gene: Htt Location: Chr5:34919084-35069878 bp, + strand Genetic Position: Chr5, 17.92 cM
• Alliance: Htt^tm1Mfc page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:85298
• Parent Cell Line: W9.5/W95 (ES Cell)
• Strain of Origin: 129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Insertion
• Mutation details: A fragment extending from 18 bp upstream of the polyglutamine stretch in exon 1 to 100 bp into intron 1 was replaced with human HD sequence containing 140 CAG repeats. A floxed neo cassette was retained 1.3 kb upstream of exon 1. Western blot analysis of homozygous mutant cerebellum and forebrain tissues identified protein corresponding with the mouse/human hybrid protein. Similar levels of mutant and endogenous protein were observed. The repeat number is not stable and may expand or contract. (J:85298)

Disease models

Expression

In Mice Carrying this Mutation:	1144396 assay results 20 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Htt Mutation: 178 strains or lines available

References

• Original: J:85298 Menalled LB, et al., Time course of early motor and neuropathological anomalies in a knock-in mouse model of Huntington's disease with 140 CAG repeats. J Comp Neurol. 2003 Oct 6;465(1):11-26
• All: 155 reference(s)