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Edn3ls
Spontaneous Allele Detail
Nomenclature
Symbol: Edn3ls
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
Edn3ls/Edn3ls

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

Mutation
origin
Strain of Origin:  C57BL-at
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsRT-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
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 3 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Edn3 Mutation:  21 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); my<1>; and agouti-umbrous a. Companion Issue to Mouse News Lett #21. 1959;:39
All:  25 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
11/30/2021
MGI 6.17
The Jackson Laboratory