Vps35^tm1.1Hlw
Targeted Allele Detail

Summary

• Symbol: Vps35^tm1.1Hlw
• Name: VPS35 retromer complex component; targeted mutation 1.1, Hung-Li Wang
• MGI ID: MGI:7465211
• Synonyms: VPS35^D620N
• Gene: Vps35 Location: Chr8:85987014-86026146 bp, - strand Genetic Position: Chr8, 41.61 cM
• Alliance: Vps35^tm1.1Hlw page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:329507
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S/SvEv

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Aspartic acid codon 620 (GAT) in exon 15 was changed to asparagine (AAT) (p.D620N) and a loxP site flanked neomycin resistance gene cassette was inserted into intron 15. The neo cassette was removed through subsequent Cre-mediated recombination. The equivalent human mutation is found in some familial type 17 Parkinsons disease (PARK17) patients. (J:329507)
• Inheritance: Dominant

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Vps35 Mutation: 45 strains or lines available

References

• Original: J:329507 Chiu CC, et al., (D620N) VPS35 causes the impairment of Wnt/beta-catenin signaling cascade and mitochondrial dysfunction in a PARK17 knockin mouse model. Cell Death Dis. 2020 Nov 30;11(11):1018
• All: 1 reference(s)