Slc9a8^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Slc9a8^m1Btlr
• Name: solute carrier family 9 (sodium/hydrogen exchanger), member 8; mutation 1, Bruce Beutler
• MGI ID: MGI:6268359
• Synonyms: costello
• Gene: Slc9a8 Location: Chr2:167263632-167318920 bp, + strand Genetic Position: Chr2, 87.22 cM
• Alliance: Slc9a8^m1Btlr 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 167,451,296 (v38) on chromosome 2, or base pair 29,620 in the GenBank genomic region NC_000068 encoding Slc9a8. The mutation corresponds to residue 686 in the mRNA sequence NM_148929 within exon 8 of 17 total exons. The mutation results in a methionine (M) to lysine (K) substitution at position 215 (M215K) in the SLC9A8 protein. (J:267481)
• 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 Slc9a8 Mutation: 108 strains or lines available

References

• Original: J:267481 Turer E, et al., Mutagenetix entry for costello. MGI Direct Data Submission. 2018
• All: 1 reference(s)