Ednrb^WS4
Spontaneous Allele Detail

Summary

• Symbol: Ednrb^WS4
• Name: endothelin receptor type B; Waardenburg syndrome 4
• MGI ID: MGI:2674291
• Synonyms: WS4
• Gene: Ednrb Location: Chr14:104052055-104081764 bp, - strand Genetic Position: Chr14, 53.05 cM
• Alliance: Ednrb^WS4 page

Cochlea comparison of wild type and Ednrb^WS4/Ednrb^WS4 mice at 6 weeks of age

Show the 3 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: (BALB/c x MSM)F1

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: The WS4 mouse arose spontaneously at the Saitama Research Center, Saitama, Japan. The mutation was shown to be allelic to Ednrb^s-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)

Disease models

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Ednrb Mutation: 104 strains or lines available

References

• 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
• All: 2 reference(s)