| Primary Identifier | MGI:1855959 | Allele Type | Spontaneous |
| Attribute String | Hypomorph | Gene | Usp14 |
| Inheritance Mode | Recessive | Strain of Origin | STOCK Mafb<kr> |
| Is Recombinase | false | Is Wild Type | false |
| description | There is sufficient reason to believe that axJand ax represent the same mutation. The kreisler stock was imported to The Jackson Laboratory from Edinburgh in 1952. The axJ mutation arose at The Jackson Laboratory in the kreisler stock in 1953 and was originally called paralytic. Mary Lyon, also in Edinburgh, reported the ataxia mutation shortly thereafter. Paralytic heterozygotes were sent to Mary Lyon and found to be allelic with her ataxia mutant. Thus the name was changed from paralytic to ataxia. The Jackson Laboratory investigated the possibility that ax and axJ were really the same strain. Examination of the original shipping records and pedigree numbers showed that the original kreisler male and female mice shipped to the laboratory in 1952, were potentially heterozygote for the ax mutation (J:58683). |
| molecularNote | The mutation underlying this phenotypic mutant has been identified as an IAP insertion into intron 5 of the Usp14 gene. The insertion results in a number of aberrant splice products containing stop codons immediately following the splice junction. Low levels of wild-type transcript are observed in homozygous mutant animals, suggesting that this allele is hypomorphic. |
