Ednrb^s-3Btlr
Chemically induced Allele Detail

Summary

• Symbol: Ednrb^s-3Btlr
• Name: endothelin receptor type B; piebald 3 Bruce Beutler
• MGI ID: MGI:6198508
• Synonyms: sposh
• Gene: Ednrb Location: Chr14:104052055-104081764 bp, - strand Genetic Position: Chr14, 53.05 cM
• Alliance: Ednrb^s-3Btlr page

Mutation origin

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

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: ENU-induced T to C transition at base pair 103,821,714 (v38) on chromosome 14, or base pair 22,763 in the GenBank genomic region NC_000080 encoding Ednrb. The mutation corresponds to residue 1,286 in the mRNA sequence NM_001136061.2 within exon 5 of 8 total exons. The mutation results in a phenylalanine to serine substitution at amino acid 292 (F292S) in both endothelin receptor type B (ETBR) isoforms. (J:264716)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Ednrb Mutation: 104 strains or lines available

References

• Original: J:264716 Prince L, et al., Mutagenetix entry for sposh. MGI Direct Data Submission. 2018
• All: 1 reference(s)