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| Nomenclature |
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Symbol:
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Htttm1.1Tna
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Name:
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huntingtin;
targeted mutation 1.1, Toshiharu Nagatsu
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MGI ID: |
MGI:2388035 |
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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:76017
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Parent Cell Line:
| E14 (ES Cell) |
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Strain of Origin:
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129P2/OlaHsd
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutation: | |
Insertion |
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Mutation details: The endogenous exon 1 was replaced with human HD exon 1 sequence containing 77 CAG repeats. The floxed neo cassette was removed from Hdhtm1Tna by in vivo cre mediated excision in the germline. Western blot analysis of mutant mice showed the protein with the expanded polyglutamine tract to be expressed in a variety of tissues. (J:76017)
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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:76017
Ishiguro H et al.,
"Age-dependent and tissue-specific CAG repeat instability occurs in mouse knock-in for a mutant Huntington's disease gene."
J Neurosci Res 2001 Aug 15;65(4):289-97
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All: |
1 reference(s)
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Analysis Tools
