Slc25a46^atc
Chemically induced Allele Detail

Summary

• Symbol: Slc25a46^atc
• Name: solute carrier family 25, member 46; ataxic
• MGI ID: MGI:6118180
• Synonyms: atc
• Gene: Slc25a46 Location: Chr18:31713217-31743585 bp, - strand Genetic Position: Chr18, 17.79 cM
• Alliance: Slc25a46^atc page

Mutation origin

• Strain of Origin: C57BL/6J x 129S6/SvEvTac

Mutation description

• Allele Type: Chemically induced (ENU) (Null/knockout)
• Mutation: Single point mutation
• Mutation details: 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. (J:242350)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

6 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 Slc25a46 Mutation: 24 strains or lines available

References

• Original: J:242350 Terzenidou ME, et al., Novel insights into SLC25A46-related pathologies in a genetic mouse model. PLoS Genet. 2017 Apr;13(4):e1006656
• All: 1 reference(s)