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Spontaneous Allele Detail
Symbol: Usp14ax-J
Name: ubiquitin specific peptidase 14; ataxia Jackson
MGI ID: MGI:1855959
Synonyms: ax, axJ, paralytic, pr, Usp14asJ, Usp14axJ
Gene: Usp14  Location: Chr18:9993615-10030149 bp, - strand  Genetic Position: Chr18, 4.91 cM
Strain of Origin:  STOCK Mafbkr
Allele Type:    Spontaneous (Hypomorph)
Mutation:    Transposon insertion
Mutation detailsThe 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. (J:79322)
Inheritance:    Recessive
Schematic of the location of the IAP insertion generating the Usp14ax-J allele
View phenotypes and curated references for all genotypes (concatenated display).
In Structures Affected by this Mutation: 21 anatomical structures
Find Mice (IMSR)
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 Usp14 Mutation:  17 strains or lines available
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).
Original:  J:24770 Carter TC, New mutants. Mouse News Lett. 1950;2:1
All:  24 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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MGI 6.16
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