Htttm1Hay
Targeted Allele Detail
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| Symbol: |
Htttm1Hay |
| Name: |
huntingtin; targeted mutation 1, Michael Hayden |
| MGI ID: |
MGI:2177743 |
| Synonyms: |
Hdhex5 |
| Gene: |
Htt Location: Chr5:34919084-35069878 bp, + strand Genetic Position: Chr5, 17.92 cM
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| Alliance: |
Htttm1Hay page
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| Germline Transmission: |
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: |
Not Specified
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| Allele Type: |
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Targeted (Null/knockout) |
| Mutations: |
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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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View phenotypes and curated references for all genotypes (concatenated display).
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| Mouse strains and cell lines
available from the International Mouse Strain Resource
(IMSR) |
| Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available
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| Carrying any Htt Mutation: |
178 strains or lines available
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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 |
| All: |
14 reference(s) |
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Analysis Tools
