Summary | Mutation origin | Mutation description | Phenotypes | Find Mice (IMSR) | References

Symbol:	Ednrbs-Btlr
Name:	endothelin receptor type B; piebald Bruce Beutler
MGI ID:	MGI:5516429
Synonyms:	gus-gus
Gene:	Ednrb  Location: Chr14:104052061-104081838 bp, - strand  Genetic Position: Chr14, 53.05 cM
Alliance:	Ednrbs-Btlr page

Strain of Origin:	C57BL/6J
Project Collection:	Beutler Mutagenetix

Allele Type:    Chemically induced (ENU) Mutation:    Single point mutation   Mutation details: The Ednrb mutation is a G to A transition at base pair 103820013 (v38) on Chromosome 14, or base pair 24,161 in the GenBank genomic region NC_000080 encoding Ednrb. Themutation corresponds to residue 1,337 in the mRNA sequence NM_007904.4(ENSMUST00000172237) within exon 6 of 7 total exons or residue 1,523 inthe mRNA sequence NM_001136061.2 (ENSMUST00000022718) within exon 7 of 8 total exons. The mutation results in a glycine (G) to aspartic acid (D) substitution at amino acid 371 in both endothelin receptor type B (ETBR) isoforms. (J:202015) Inheritance:    Recessive

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

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

Original:	J:202015 Purrington T, et al., Direct data submission for gus-gus mutant. MGI Direct Data Submission. 2013;
All:	1 reference(s)