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Allele : Slc24a4<m1Btlr> solute carrier family 24 (sodium/potassium/calcium exchanger), member 4; mutation 1, Bruce Beutler

Primary Identifier  MGI:6199645 Allele Type  Chemically induced (ENU)
Attribute String  Not Specified Gene  Slc24a4
Inheritance Mode  Recessive Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  Beutler Mutagenetix
molecularNote  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.
  • mutations:
  • Single point mutation
  • synonyms:
  • spindly,
  • spindly
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

3 Publication categories