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| Nomenclature |
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Symbol:
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Whsc1tm1Ykan
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Name:
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Wolf-Hirschhorn syndrome candidate 1 (human);
targeted mutation 1, Yasufumi Kaneda
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MGI ID: |
MGI:3851507 |
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Synonyms: |
Whsc1-deficient |
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Gene:
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Whsc1
Location:
Chr5:33820725-33897975 bp, + strand
Genetic Position: Chr5,
17.83 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:150360
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Parent Cell Line:
| D3 (ES Cell) |
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Strain of Origin:
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129S2/SvPas
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Mutation
description |
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Allele
Type: | |
Targeted (Reporter) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: The locus was inactivated through deletion of its carboxy-terminal region, including the catalytic SET domain, by replacing exons 13-21 with a beta-geo cassette. Homozygous ES cells were obtained by the selection of heterozygous mutant cells in a medium containing a high concentration of G418. Immunoblot analysis of the ES cells confirmed gene inactivation. LacZ was weakly expressed throughout the embryo and highly expressed in neuroepithelium E10.5 (upper), and in the forebrain, midbrain, frontal facial region, jaw, heart, and cartilage primordial at E14.5. (J:150360)
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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 Whsc1 Mutation:
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0 strains or lines available |
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| References |
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Original: |
J:150360
Nimura K et al.,
"A histone H3 lysine 36 trimethyltransferase links Nkx2-5 to Wolf-Hirschhorn syndrome."
Nature 2009 Jul 9;460(7252):287-91
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All: |
1 reference(s)
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Analysis Tools
