Slc26a4^m2Btlr
Chemically induced Allele Detail

Summary

• Symbol: Slc26a4^m2Btlr
• Name: solute carrier family 26, member 4; mutation 2, Bruce Beutler
• MGI ID: MGI:5806435
• Synonyms: cul-de-sac
• Gene: Slc26a4 Location: Chr12:31569826-31609968 bp, - strand Genetic Position: Chr12, 13.53 cM, cytoband B1
• Alliance: Slc26a4^m2Btlr 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 A transversion at base pair 31,525,568 (v38) on chromosome 12, or base pair 35,072 in the GenBank genomic region NC_000078. The mutation corresponds to residue 2,333 in the mRNA sequence NM_011867 within exon 19 of 21 total exons. The mutation results in substitution of cysteine (C) 706 to a premature stop codon in the pendrin protein. (J:236690)
• 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 Slc26a4 Mutation: 39 strains or lines available

References

• Original: J:236690 SoRelle J, et al., Mutagenetix entry for cul-de-sac. MGI Direct Data Submission. 2016
• All: 1 reference(s)