Ednrb^s-Btlr
Chemically induced Allele Detail

Summary

• Symbol: Ednrb^s-Btlr
• Name: endothelin receptor type B; piebald Bruce Beutler
• MGI ID: MGI:5516429
• Synonyms: gus-gus
• Gene: Ednrb Location: Chr14:104052055-104081764 bp, - strand Genetic Position: Chr14, 53.05 cM
• Alliance: Ednrb^s-Btlr page

Mutation origin

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

Mutation description

• 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

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