Dnajc13^tm1.1Mjfa
Targeted Allele Detail

Summary

• Symbol: Dnajc13^tm1.1Mjfa
• Name: DnaJ heat shock protein family (Hsp40) member C13; targeted mutation 1.1, Matthew Farrer
• MGI ID: MGI:6405716
• Synonyms: DKI
• Gene: Dnajc13 Location: Chr9:104028481-104140129 bp, - strand Genetic Position: Chr9, 56.61 cM
• Alliance: Dnajc13^tm1.1Mjfa page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:282550
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6NTac

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: An A to G nucleotide change at position 2564 resulting in an asparagine to serine substitution at amino acid 855 was introduced in exon 24. In addition, a floxed mini-cDNA cassette containing exons 23-56 and human growth hormone poly-A signal was inserted upstream of exon 23. Cre-mediated recombination removed the mini-cDNA cassette so that the N855S mutant protein is expressed. (J:282550)

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 Dnajc13 Mutation: 83 strains or lines available

References

• Original: J:282550 Follett J, et al., DNAJC13 p.Asn855Ser, implicated in familial parkinsonism, alters membrane dynamics of sorting nexin 1. Neurosci Lett. 2019 Jul 27;706:114-122
• All: 1 reference(s)