Htt^tm5Mem
Targeted Allele Detail

Summary

• Symbol: Htt^tm5Mem
• Name: huntingtin; targeted mutation 5, Marcy E MacDonald
• MGI ID: MGI:1861935
• Synonyms: Hdh^Q111
• Gene: Htt Location: Chr5:34919084-35069878 bp, + strand Genetic Position: Chr5, 17.92 cM
• Alliance: Htt^tm5Mem page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:52440
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Insertion
• Mutation details: This allele carries 109 CAG repeat units, with 111 glutamines, in the first exon of the endogenous gene. It is a derivative of Htt^tm8 in which the neo cassette has been removed via cre-mediated recombination. (J:52440)

Disease models

Expression

In Mice Carrying this Mutation:	20 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	4 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:52440 Wheeler VC, et al., Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse. Hum Mol Genet. 1999 Jan;8(1):115-22
• All: 87 reference(s)