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Ednrbs
Spontaneous Allele Detail
Summary
Symbol: Ednrbs
Name: endothelin receptor type B; piebald
MGI ID: MGI:1856148
Synonyms: pied spotting, s
Gene: Ednrb  Location: Chr14:104052055-104081764 bp, - strand  Genetic Position: Chr14, 53.05 cM
Alliance: Ednrbs page
Ednrbs/Ednrbs

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

Mutation
origin
Strain of Origin:  old mutant of the mouse fancy
Mutation
description
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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 1 assay results
In Structures Affected by this Mutation: 7 anatomical structure(s)
Tumor Data
List all tumor models in MMHCdb carrying Ednrbs
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 19 strains available      Cell Lines: 0 lines available
Carrying any Ednrb Mutation:  104 strains or lines available
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.
References
Original:  J:23183 Dunn LC, Types of white spotting in mice. Am Naturalist. 1920 Nov-Dec;54:465-95
All:  41 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory