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| Nomenclature |
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Symbol:
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Htttm2Mem
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Name:
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huntingtin;
targeted mutation 2, Marcy E MacDonald
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MGI ID: |
MGI:1861703 |
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Synonyms: |
HdhQ20 |
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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:52440
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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: | |
Insertion |
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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 Hdhtm6Mem in which the neo cassette has been removed via cre-mediated recombination. (J:52440)
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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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| References |
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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
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All: |
9 reference(s)
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Analysis Tools
