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| Nomenclature |
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Symbol:
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Htttm8Mem
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Name:
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huntingtin;
targeted mutation 8, Marcy E MacDonald
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MGI ID: |
MGI:3697907 |
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Synonyms: |
HdhneoQ111 |
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Gene:
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Htt
Location:
Chr5:34761740-34912534 bp, + strand
Genetic Position: Chr5,
17.92 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:72915
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutation: | |
Nucleotide repeat expansion |
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Mutation details: This allele carries 109 CAG repeat units, with 111 glutamines, in the first exon of the endogenous gene and a floxed neo cassette in the promoter. It is a hypomorphic allele, expressing reduced levels of the mutant protein. (J:52440, J:72915)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Htt Mutation:
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40 strains or lines available |
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| References |
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Original: |
J:72915
Auerbach W et al.,
"The HD mutation causes progressive lethal neurological disease in mice expressing reduced levels of huntingtin."
Hum Mol Genet 2001 Oct 15;10(22):2515-23
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All: |
4 reference(s)
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Analysis Tools
