Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Slc25a46atc
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:	Slc25a46atc page

Strain of Origin:

C57BL/6J x 129S6/SvEvTac

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

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

6 anatomical structure(s)

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

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)