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| Nomenclature |
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Symbol:
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Htttm1Mfc
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Name:
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huntingtin;
targeted mutation 1, Marie-Francoise Chesselet
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MGI ID: |
MGI:2675580 |
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Synonyms: |
140-CAG KI, CAG140, CAG140 KI, HdhQ140, zQ175 |
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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:85298
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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 containing 140 CAG repeats. A floxed neo cassette was retained 1.3 kb upstream of exon 1. Western blot analysis of homozygous mutant cerebellum and forebrain tissues identified protein corresponding with the mouse/human hybrid protein. Similar levels of mutant and endogenous protein were observed. The repeat number is not stable and may expand or contract. (J:85298)
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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:85298
Menalled LB et al.,
"Time course of early motor and neuropathological anomalies in a knock-in mouse model of Huntington's disease with 140 CAG repeats."
J Comp Neurol 2003 Oct 6;465(1):11-26
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All: |
33 reference(s)
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Analysis Tools
