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Ednrbs-l
Spontaneous Allele Detail
Summary
Symbol: Ednrbs-l
Name: endothelin receptor type B; piebald lethal
MGI ID: MGI:1856149
Synonyms: sl
Gene: Ednrb  Location: Chr14:104052061-104081838 bp, - strand  Genetic Position: Chr14, 53.05 cM
Alliance: Ednrbs-l page
Ednrbs-l/Ednrbs-l

Show the 2 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  (C3H/HeJ x C57BL/6)F2
Mutation
description
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
 
Mutation detailsSouthern blotting revealed that all of the coding exons of the gene were deleted. In addition, the transcript was undetectable by northern blotting in homozygous mice. The deletion encompasses 97,637 base pairs of chromosome 14, beginning 15.72 kb upstream of Ednrb and continuing 54.98 kb downstream. According to the Ensembl genome database (m37), no other genes are located in the region that is deleted. (J:22206, J:200162)
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 Mice Carrying this Mutation: 1 assay results
In Structures Affected by this Mutation: 8 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Ednrb Mutation:  103 strains or lines available
References
Original:  J:5008 Lane PW, Association of megacolon with two recessive spotting genes in the mouse. J Hered. 1966 Jan-Feb;57(1):29-31
All:  20 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
03/12/2024
MGI 6.23
The Jackson Laboratory