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| Nomenclature |
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Symbol:
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Hap1tm1Xjl
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Name:
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huntingtin-associated protein 1;
targeted mutation 1, Xiao-Jiang Li
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MGI ID: |
MGI:2670598 |
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Synonyms: |
HAP1- |
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Gene:
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Hap1
Location:
Chr11:100347327-100356128 bp, - strand
Genetic Position: Chr11,
63.47 cM, cytoband D
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:84682
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Parent Cell Line:
| TC1/TC-1 (ES Cell) |
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Strain of Origin:
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129S6/SvEvTac
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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: Exons 1 and 2, which encode the first 131 amino acids, were replaced with a neomycin selection cassette. Protein was undetected in the brains of homozygous mutant mice by Western blot analysis. (J:84682)
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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:84682
Li SH et al.,
"Lack of huntingtin-associated protein-1 causes neuronal death resembling hypothalamic degeneration in Huntington's disease."
J Neurosci 2003 Jul 30;23(17):6956-64
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All: |
4 reference(s)
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Analysis Tools
