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| Nomenclature |
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Symbol:
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Htttm1Hay
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Name:
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huntingtin;
targeted mutation 1, Michael Hayden
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MGI ID: |
MGI:2177743 |
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Synonyms: |
Hdhex5 |
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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:25941
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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Not Specified
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: A PGK-neomycin selection cassette replaced part of intron 4 and part of exon 5. RT-PCR analysis on RNA derived from brain of homozygous mice demonstrated that the mutation resulted in the production of a transcript that lacked exon 5 sequences, resulting in a frameshift that introduced a stop codon downstream of the mutation. Western blot analysis on brain lysates from heterozygous mice revealed that a smaller protein of approximately 20 kDa may be produced from this allele. (J:25941)
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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:25941
Nasir J et al.,
"Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes."
Cell 1995 Jun 2;81(5):811-23
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All: |
8 reference(s)
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Analysis Tools
