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| Nomenclature |
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Symbol:
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Gjb3tm2.1Kwi
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Name:
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gap junction protein, beta 3;
targeted mutation 2.1, Klaus Willecke
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MGI ID: |
MGI:3711982 |
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Synonyms: |
Cx31F137L |
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Gene:
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Gjb3
Location:
Chr4:127325235-127330844 bp, - strand
Genetic Position: Chr4,
61.48 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:121802
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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 (knock-in) |
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Mutation: | |
Insertion |
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Mutation details: A T to C transition resulted in the insertion of the human F137L mutation in the third transmembrane region. A floxed sequence, including an frt-flanked neo, was located downstream of the F137L mutation and subsequently removed via transient cre expression. (J:121802)
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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:121802
Schnichels M et al.,
"The Connexin31 F137L mutant mouse as a model for the human skin disease Erythrokeratodermia variabilis (EKV)."
Hum Mol Genet 2007 May 15;16(10):1216-24
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All: |
1 reference(s)
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Analysis Tools
