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| Nomenclature |
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Symbol:
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Htttm2Msl
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Name:
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huntingtin;
targeted mutation 2, Michael S Levine
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MGI ID: |
MGI:2388032 |
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Synonyms: |
CAG94, HdhQ94 |
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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:76018
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Parent Cell Line:
| W9.5/W95 (ES Cell) |
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Strain of Origin:
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129S1/Sv-Oca2+ Tyr+ 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: A fragment extending from 18 bp upstream of the polyglutamine stretch in exon 1 to 100 bp into intron 1 was replaced with human HD sequence obtained from a juvenile HD lymphoblastoid cell line. Though the initial construct was believed to contain 94 CAG repeats, sequence analysis identified an A to G point mutation in the 42nd CAG repeat, resulting in an arginine encoding triplet. Western blot analysis of heterozygous mice verified the expression of the mutant protein. (J:76018)
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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:76018
Levine MS et al.,
"Enhanced sensitivity to N-methyl-D-aspartate receptor activation in transgenic and knockin mouse models of Huntington's disease."
J Neurosci Res 1999 Nov 15;58(4):515-32
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All: |
4 reference(s)
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Analysis Tools
