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Allele : Slc25a46<atc> solute carrier family 25, member 46; ataxic

Primary Identifier  MGI:6118180 Allele Type  Chemically induced (ENU)
Attribute String  Null/knockout Gene  Slc25a46
Inheritance Mode  Recessive Strain of Origin  C57BL/6J x 129S6/SvEvTac
Is Recombinase  false Is Wild Type  false
molecularNote  ENU-mutagenesis induced a C to T transition, introducing a premature termination codon and resulting in a truncated protein of 95 amino acids instead of 418. This nonsense mutation presumably leads to a loss-of-function allele as the truncated protein would not contain the six conserved transmembrane regions. This mutant was identified in a screen for ataxia.
  • mutations:
  • Single point mutation
  • synonyms:
  • atc,
  • atc
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

3 Publication categories

Trail: Allele