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| Nomenclature |
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Symbol:
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Edn3ls
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Name:
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endothelin 3;
lethal spotting
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MGI ID: |
MGI:1856392 |
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Synonyms: |
ls |
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Gene:
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Edn3
Location:
Chr2:174760619-174784042 bp, + strand
Genetic Position: Chr2,
98.1 cM
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Edn3ls/Edn3ls
Show the 1 image(s) involving this allele.
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Mutation
origin |
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Strain of Origin:
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C57BL-at
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Single point mutation |
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Mutation details: 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)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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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.
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| References |
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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
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All: |
21 reference(s)
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Analysis Tools
