Usp14^ax-J
Spontaneous Allele Detail

Summary

• Symbol: Usp14^ax-J
• Name: ubiquitin specific peptidase 14; ataxia Jackson
• MGI ID: MGI:1855959
• Synonyms: ax, ax^J, paralytic, pr, Usp14^asJ, Usp14^axJ
• Gene: Usp14 Location: Chr18:9993615-10030149 bp, - strand Genetic Position: Chr18, 4.91 cM
• Alliance: Usp14^ax-J page

Mutation origin

• Strain of Origin: STOCK Mafb^kr

Mutation description

Allele Type: Spontaneous (Hypomorph) Mutation: Transposon insertion Mutation details: 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. (J:79322) Inheritance: Recessive

Schematic of the location of the IAP insertion generating the Usp14^ax-J allele

Expression

In Structures Affected by this Mutation:

19 anatomical structure(s)

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: 47 strains or lines available

Notes

There is sufficient reason to believe that ax^Jand ax represent the same mutation. The kreisler stock was imported to The Jackson Laboratory from Edinburgh in 1952. The ax^J 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 ax^J 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).

References

• Original: J:24770 Carter TC, New mutants. Mouse News Lett. 1950;2:1
• All: 25 reference(s)