Mice homozygous for this spontaneous mutation exhibit a rough, sticky coat, progressive ataxia and Purkinje cell degeneration. Cerebellar Purkinje cell loss is first observed by three weeks of age becomes extensive by six weeks of age and continues to progress slowly over the course of a year. This mutant mouse strain may be useful in studies related to neurodegeneration, protein misfolding and aberrant transfer RNAs.
This spontaneous mutation arose in a mixed background stock, which included the wild-derived PERU. The colony was transferred from the laboratory of Margaret Wallace at the University of Cambridge to The Jackson Laboratory in approximately 1984 and was backcrossed to C57BL/6J for 9 generations. Embryos were cryopreserved in 1996 using N9F1 heterozygous males bred to C57BL/6J females.
|Gene Symbol and Name||Aars, alanyl-tRNA synthetase|
|Strain of Origin||Laboratory stock|
|General Note||The sticky mutation arose on an unknown mouse stock.|
|Molecular Note||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.|