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| Nomenclature |
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Symbol:
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EdnrbWS4
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Name:
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endothelin receptor type B;
Waardenburg syndrome 4
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MGI ID: |
MGI:2674291 |
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Synonyms: |
WS4 |
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Gene:
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Ednrb
Location:
Chr14:103814625-103844173 bp, - strand
Genetic Position: Chr14,
53.05 cM
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Cochlea comparison of wild type and EdnrbWS4/EdnrbWS4 mice at 6 weeks of age
Show the 3 image(s) involving this allele.
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Mutation
origin |
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Strain of Origin:
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(BALB/c x MSM)F1
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Intragenic deletion |
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Mutation details: The WS4 mouse arose spontaneously at the Saitama Research Center, Saitama, Japan. The mutation was shown to be allelic to Ednrbs-l by a non-complementation test. Analysis of a cDNA derived from mutant mice revealed that a deletion of nucleotides encoding 106 amino acids corresponding to exons 2 and 3 had occurred. (J:76584, J:115266)
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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:76584
Matsushima Y et al.,
"A mouse model of Waardenburg syndrome type 4 with a new spontaneous mutation of the endothelin-B receptor gene."
Mamm Genome 2002 Jan;13(1):30-5
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All: |
2 reference(s)
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Analysis Tools
