Vps35^tm1.1Mjff
Targeted Allele Detail

Summary

• Symbol: Vps35^tm1.1Mjff
• Name: VPS35 retromer complex component; targeted mutation 1.1,The Michael J Fox Foundation
• MGI ID: MGI:5607779
• Synonyms: D620N VPS35 KI, VKI, VPS35^D620N
• Gene: Vps35 Location: Chr8:85987014-86026146 bp, - strand Genetic Position: Chr8, 41.61 cM
• Alliance: Vps35^tm1.1Mjff page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:274797
• Parent Cell Line: Bruce 4 (ES Cell)
• Strain of Origin: B6.Cg-Thy1^a

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A targeted vector containing a floxed "mini-cDNA" including a splice acceptor and normal cDNA sequence for exons 15-17, followed by a frt-flanked neo cassette and a third loxP site, inserted into intron 14, and a nucleotide change causing a D620N mutation in the inherent mouse gene sequence 3' of the insertion. The polyadenylation signal sequence at the end of the mini-cDNA prevents expression of the D620N mutation. Flp-mediated recombination removed the neo cassette. Cre-mediated recombination removed the "mini-cDNA" sequence and allows expression of the D620N mutation. (J:274797)

Disease models

Expression

In Structures Affected by this Mutation:

1 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 Vps35 Mutation: 44 strains or lines available

References

• Original: J:274797 Cataldi S, et al., Altered dopamine release and monoamine transporters in Vps35 p.D620N knock-in mice. NPJ Parkinsons Dis. 2018;4:27
• All: 8 reference(s)