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| Nomenclature |
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Symbol:
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Mkkstm1Vcs
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Name:
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McKusick-Kaufman syndrome;
targeted mutation 1, Val C Sheffield
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MGI ID: |
MGI:3526444 |
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Synonyms: |
Bbs6-, Mkks- |
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Gene:
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Mkks
Location:
Chr2:136873780-136891389 bp, - strand
Genetic Position: Chr2,
67.64 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:99276
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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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 targeting construct was designed to replace exon 3 with a neo. Northern blot of mutants confirmed absence of mRNA in kidneys. (J:99276)
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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:99276
Fath MA et al.,
"Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome."
Hum Mol Genet 2005 May 1;14(9):1109-18
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All: |
7 reference(s)
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Analysis Tools
