Edn3<ls> Spontaneous Allele Detail MGI Mouse (MGI:1856392)

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

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

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:	24 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)

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