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| Nomenclature |
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Symbol:
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Ednrbs
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Name:
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endothelin receptor type B;
piebald
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MGI ID: |
MGI:1856148 |
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Synonyms: |
pied spotting, s |
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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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Ednrbs/Ednrbs
Show the 4 image(s) involving this allele.
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Mutation
origin |
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Strain of Origin:
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old mutant of the mouse fancy
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Transposon insertion |
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Mutation details: This mutation is allelic to a targeted mutation for this gene. Homozygous mice produce approximately 25% of the normal levels of transcript from this allele. RT-PCR analysis demonstrated that no alterations in the coding sequence would result in any alteration of the amino acid sequence. A 5.5 kb retrotransposon-like element is found in intron 1. About 75% of the mRNA produced is an aberrant 6.5 kb form lacking exons 2-6 but containing exon 1. The remaining 25% of the mRNA formed is of normal, 4.4 kb, size. (J:22206, J:56133, J:110573)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Notes |
Also called piebald spotting. This is a very old mutation of the mouse fancy, and was described in the scientific literature as early as 1920 (J23183). Some piebalds in existing stocks may be of independent origin. The white areas of the coat are completely lacking in melanocytes, and there is a reduction in the number of melanocytes in the choroid layer of the eye (J:15014, J:12970). There may also be defects in the structure of the iris, suggesting that pigment cells make some structural or inductive contribution to normal development (J:13123).
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| References |
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Original: |
J:23183
Dunn LC,
"Types of white spotting in mice"
Am Naturalist 1920 Nov-Dec;54():465-95
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All: |
38 reference(s)
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Analysis Tools
