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| Nomenclature |
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Symbol:
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Gjb6tm1Kwi
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Name:
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gap junction protein, beta 6;
targeted mutation 1, Klaus Willecke
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MGI ID: |
MGI:2447863 |
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Synonyms: |
connexin30-, Cx30-, Cx30lacZ |
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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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Transmission electron microscopy analysis of stria vascularis capillaries in Gjb6tm1Kwi/Gjb6tm1Kwi mice
Show the 1 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:80917
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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: The entire coding region of the endogenous locus was replaced by homologous recombination of a cassette containing NLS-lacZ and neo genes. Neither transcript nor protein was detected by Northern and Western blot analyses of brain tissue obtained from homozygous mutant mice. The expression pattern of lacZ was similar to that of the endogenous gene. (J:80917)
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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:80917
Teubner B et al.,
"Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential."
Hum Mol Genet 2003 Jan 1;12(1):13-21
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All: |
30 reference(s)
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Analysis Tools
