|
|
| Nomenclature |
|
Symbol:
|
Htttm2.1Pfs
|
|
Name:
|
huntingtin;
targeted mutation 2.1, Peggy F Shelbourne
|
|
MGI ID: |
MGI:2177753 |
|
Synonyms: |
Hdh6/Q72 |
|
Gene:
|
Htt
Location:
Chr5:34761740-34912534 bp, + strand
Genetic Position: Chr5,
17.92 cM
|
|
Mutation
origin |
|
Germline Transmission:
|
Earliest citation of germline transmission:
J:54906
|
|
Parent Cell Line:
| JM-1 (ES Cell) |
|
Strain of Origin:
|
129X1/SvJ
|
|
Mutation
description |
|
Allele
Type: | |
Targeted (knock-in) |
|
Mutations: | |
Insertion, Nucleotide repeat expansion |
| |
|
Mutation details: This allele carries 72 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)
|
|
Phenotypes
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
|
Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
|
Carrying any Htt Mutation:
|
40 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: |
6 reference(s)
|
|
Analysis Tools
