Ednrb^s
Spontaneous Allele Detail

Summary

• Symbol: Ednrb^s
• Name: endothelin receptor type B; piebald
• MGI ID: MGI:1856148
• Synonyms: pied spotting, s
• Gene: Ednrb Location: Chr14:104052061-104081838 bp, - strand Genetic Position: Chr14, 53.05 cM
• Alliance: Ednrb^s page

Ednrb^s/Ednrb^s

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 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)
• Inheritance: Recessive

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 Ednrb^s

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: 103 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)