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| Nomenclature |
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Symbol:
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Gjb2tm2.2Kwi
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Name:
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gap junction protein, beta 2;
targeted mutation 2.2, Klaus Willecke
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MGI ID: |
MGI:4867482 |
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Synonyms: |
Cx26S17F |
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Gene:
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Gjb2
Location:
Chr14:57098600-57104702 bp, - strand
Genetic Position: Chr14,
30.1 cM, cytoband D1-E1
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:166732
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Parent Cell Line:
| HM-1 (ES Cell) |
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Strain of Origin:
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129P2/OlaHsd-Hprtb-m3
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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: Cre-mediated recombination removed the endogenous coding region to allow for expression of the modified coding region containing the S17F substitution. (J:166732)
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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 Gjb2 Mutation:
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5 strains or lines available |
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| References |
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Original: |
J:166732
Schutz M et al.,
"The connexin26 S17F mouse mutant represents a model for the human hereditary keratitis-ichthyosis-deafness syndrome."
Hum Mol Genet 2011 Jan 1;20(1):28-39
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All: |
1 reference(s)
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Analysis Tools
