Dnajc6^em1Mcook
Endonuclease-mediated Allele Detail

Summary

• Symbol: Dnajc6^em1Mcook
• Name: DnaJ heat shock protein family (Hsp40) member C6; endonuclease-mediated mutation 1, Mark Cookson
• MGI ID: MGI:6382419
• Synonyms: R857G Auxilin
• Gene: Dnajc6 Location: Chr4:101353828-101499996 bp, + strand Genetic Position: Chr4, 46.89 cM
• Alliance: Dnajc6^em1Mcook page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/cas9 endonuclease-mediated genome editing is used to create an amino acid substitution at position 857 altering arginine to glycine (R857G; AGG to GGC) in the Hspa8 binding domain of the gene. The mutation is orthologous to the pathogenic human R927G allele associated with juvenile Parkinsonism. (J:281691)

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 Dnajc6 Mutation: 62 strains or lines available

References

• Original: J:281691 Roosen DA, et al., Mutations in Auxilin cause parkinsonism via impaired clathrin-mediated trafficking at the Golgi apparatus and synapse. bioRxiv. 2019
• All: 1 reference(s)