Ednrb<s-l> Spontaneous Allele Detail MGI Mouse (MGI:1856149)

Ednrb^s-l
Spontaneous Allele Detail

Summary

Symbol:	Ednrb^s-l
Name:	endothelin receptor type B; piebald lethal
MGI ID:	MGI:1856149
Synonyms:	s^l
Gene:	Ednrb Location: Chr14:104052055-104081764 bp, - strand Genetic Position: Chr14, 53.05 cM
Alliance:	Ednrb^s-l page

Ednrb^s-l/Ednrb^s-l

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

Mutation
origin

Strain of Origin:

Mutation
description

Allele Type:		Spontaneous
Mutation:		Intragenic deletion
		Mutation details: Southern 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

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

Disease models

Expression

In Mice Carrying this Mutation:	1 assay results
In Structures Affected by this Mutation:	7 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:	104 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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