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Spontaneous Allele Detail
Symbol: Ednrbs
Name: endothelin receptor type B; piebald
MGI ID: MGI:1856148
Synonyms: pied spotting, s
Gene: Ednrb  Location: Chr14:103814625-103844173 bp, - strand  Genetic Position: Chr14, 53.05 cM

Show the 4 phenotype image(s) involving this allele.

Strain of Origin:  old mutant of the mouse fancy
Allele Type:    Spontaneous
Mutation:    Transposon insertion
Mutation detailsThis 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)
Inheritance:    Recessive
View phenotypes for all genotypes (concatenated display).
In Mice Carrying this Mutation: 1 assay results
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 23 strains available      Cell Lines: 0 lines available
Carrying any Ednrb Mutation:  57 strains or lines available
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).

Original:  J:23183 Dunn LC, Types of white spotting in mice. Am Naturalist. 1920 Nov-Dec;54:465-95
All:  39 reference(s)

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