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

Symbol: Aars1sti Name: alanyl-tRNA synthetase 1; sticky MGI ID: MGI:3618596 Synonyms: AarsA734E Gene: Aars1  Location: Chr8:111759781-111784237 bp, + strand  Genetic Position: Chr8, 57.9 cM Alliance: Aars1sti page

Aars1sti/ Aars1sti Show the 2 phenotype image(s) involving this allele.

Strain of Origin:

Laboratory stock

Allele Type:    Spontaneous Mutation:    Single point mutation   Mutation details: A C-to-A nucelotide change at coding nucleotide 2201 is predicted to result in an alanine to glutamic acid non-conservative amino acid change in codon 734 of the encoded protein. Transgenic rescue experiments using a wild-type Aars gene indicated that this transversion mutation is responsible for the mutant phenotype. (J:110647) Inheritance:    Recessive

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

In Structures Affected by this Mutation:

9 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Aars1 Mutation:	68 strains or lines available

Original:	J:110647 Lee JW, et al., Editing-defective tRNA synthetase causes protein misfolding and neurodegeneration. Nature. 2006;443(7107):50-5
All:	7 reference(s)