Slc24a4^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Slc24a4^m1Btlr
• Name: solute carrier family 24 (sodium/potassium/calcium exchanger), member 4; mutation 1, Bruce Beutler
• MGI ID: MGI:6199645
• Synonyms: spindly
• Gene: Slc24a4 Location: Chr12:102094992-102233350 bp, + strand Genetic Position: Chr12, 51.42 cM
• Alliance: Slc24a4^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 102,264,944 (v38) on chromosome 12, or base pair 136,294 in the GenBank genomic region NC_000078 within the donor splice site of intron 16 in the cDNA transcript ENSMUST00000079020.10 (corresponding to the mRNA sequence NM_172152). The effect of the mutation at the cDNA and protein level have not examined, but if the mutation affects this transcript it is predicted to result in skipping of the 66-nucleotide exon 16 (out of 17 total exons), resulting in an in-frame deletion of amino acids 534 to 555; the rest of the protein product is unchanged. (J:265124)
• 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 Slc24a4 Mutation: 34 strains or lines available

References

• Original: J:265124 Turer E, et al., Mutagenetix entry for spindly. MGI Direct Data Submission. 2018
• All: 1 reference(s)