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| Nomenclature |
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Symbol:
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Gjb6tm1.1Fama
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Name:
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gap junction protein, beta 6;
targeted mutation 1.1, Fabio Mammano
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MGI ID: |
MGI:4848154 |
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Synonyms: |
Cx30T5M |
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Gene:
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Gjb6
Location:
Chr14:57123303-57133611 bp, - strand
Genetic Position: Chr14,
30.1 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:166362
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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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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: A portion of the coding region was replaced with the corresponding human sequence containing nucleotide substitutions that result in the amino acid substitution of methionine for threonine at position 5 (T5M) followed by an IRES, lacZ with a nuclear localization signal, and an FRT-flanked neo cassette. Flp-mediated recombination removed the neo cassette. Reduced protein expression was confirmed by western blot analysis. (J:166362)
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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:166362
Schutz M et al.,
"The human deafness-associated connexin 30 T5M mutation causes mild hearing loss and reduces biochemical coupling among cochlear non-sensory cells in knock-in mice."
Hum Mol Genet 2010 Dec 15;19(24):4759-73
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All: |
1 reference(s)
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Analysis Tools
