Edn3^ls
Spontaneous Allele Detail

Summary

• Symbol: Edn3^ls
• Name: endothelin 3; lethal spotting
• MGI ID: MGI:1856392
• Synonyms: ls
• Gene: Edn3 Location: Chr2:174602412-174625835 bp, + strand Genetic Position: Chr2, 98.1 cM
• Alliance: Edn3^ls page

Edn3^ls/Edn3^ls

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C57BL-a^t

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: RT-PCR analysis of this allele revealed a missense C-to-T change at coding nucleotide 409, which results in a substitution of the Arg-137 residue with a Trp residue (p.R137W). (J:22207)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 3 strains available Cell Lines: 0 lines available
• Carrying any Edn3 Mutation: 25 strains or lines available

Notes

Lethal spotting mutant mice usually die in the third week of life from the megacolon abnormality, which is associated with deficiency of intrinsic ganglion cells in the lower colon. A few homozygotes may survive and breed.

Other alleles of this gene serve as models for WAARDENBURG-SHAH SYNDROME. This allele was not studied in this context.

References

• Original: J:24725 Phillips RJS, New mutants, provisional symbol ls (lethal spotting); my¹; and agouti-umbrous a^u. Companion Issue to Mouse News Lett #21. 1959;:39
• All: 25 reference(s)