|
|
| Nomenclature |
|
Symbol:
|
Edn3ls
|
|
Name:
|
endothelin 3;
lethal spotting
|
|
MGI ID: |
MGI:1856392 |
|
Synonyms: |
ls |
|
Gene:
|
Edn3
Location:
Chr2:174586120-174609543 bp, + strand
Genetic Position: Chr2,
104.0 cM
|
|
Edn3ls/Edn3ls
Show the 1 image(s) involving this allele.
|
 |
|
Mutation
origin |
|
Strain of Origin:
|
C57BL-at
|
|
Mutation
description |
|
Allele
Type: |
Spontaneous |
|
Mutation: |
Single point mutation |
| |
RT-PCR analysis of this allele revealed a missense C to T change at nucleotide 409 of the coding region which results in a substitution of an Arg-137 residue with a Trp residue. (J:22207) |
|
Inheritance: |
Recessive |
|
| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
|
Phenotype
summary
|
|
Phenotype Summary by Mammalian Phenotype terms
(show or
hide all annotated terms)
Genotypes are listed in the next section.
|
Key:
|
| hm |
homozygous |
ht |
heterozygous |
| cn |
conditional genotype |
cx |
complex: > 1 genome feature |
| tg |
involves transgenes |
ot |
other: hemizygous, indeterminate,... |
| N |
normal phenotype |
 |
expected model not found |
|
|
|
|
|
Phenotypic
data by
genotype
|
|
Phenotypic Data by Genotype
(show or
hide all phenotypic details)
|
| Genotype | Allelic Composition | Genetic Background |
|
  hm1
Disease Model |
Edn3ls/Edn3ls |
involves: C57BL |
lethality/postnatal pigmentation skin/coat/nails digestive/alimentary system nervous system embryogenesis |
| Genotype | Allelic Composition | Genetic Background |
|
ht2
|
Edn3ls/Edn3+ |
involves: C57BL |
pigmentation |
|
|
Disease
models
|
|
|
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<u>"
Companion Issue to Mouse News Lett #21 1959;():39
|
|
All: |
20 reference(s)
|
|
