Pjvk^tm1Ugds
Targeted Allele Detail

Summary

• Symbol: Pjvk^tm1Ugds
• Name: pejvakin; targeted mutation 1, Unite de Genetique des Deficits Sensoriels
• MGI ID: MGI:3654320
• Gene: Pjvk Location: Chr2:76480617-76488898 bp, + strand Genetic Position: Chr2, 45.08 cM
• Alliance: Pjvk^tm1Ugds page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:111260
• Parent Cell Line: CK35 (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: An R183W mutation was inserted into exon 3 via homologous recombination. A floxed neo cassette was removed by Cre mediated recombination. Expression pattern of the mutant protein is similar to wild-type. (J:111260)

Disease models

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Pjvk Mutation: 19 strains or lines available

References

• Original: J:111260 Delmaghani S, et al., Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy. Nat Genet. 2006 Jul;38(7):770-8
• All: 1 reference(s)