Htt^tm2Mem
Targeted Allele Detail

Summary

• Symbol: Htt^tm2Mem
• Name: huntingtin; targeted mutation 2, Marcy E MacDonald
• MGI ID: MGI:1861703
• Synonyms: Hdh^Q20
• Gene: Htt Location: Chr5:34919084-35069878 bp, + strand Genetic Position: Chr5, 17.92 cM
• Alliance: Htt^tm2Mem 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 18 CAG repeat units, with 20 glutamines, in the first exon of the endogenous gene, modeling the number of CAG repeats found in the human Hdh. It is a derivative of Hdh^tm6Mem in which the neo cassette has been removed via cre-mediated recombination. (J:52440)

Disease models

Expression

In Mice Carrying this Mutation:

22 RNA-Seq or microarray experiment(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: 17 reference(s)