Pla2g6^tm1.1Hlw
Targeted Allele Detail

Summary

• Symbol: Pla2g6^tm1.1Hlw
• Name: phospholipase A2, group VI; targeted mutation 1.1, Hung-Li Wang
• MGI ID: MGI:6849808
• Synonyms: PLA2G6^D331Y
• Gene: Pla2g6 Location: Chr15:79170428-79212590 bp, - strand Genetic Position: Chr15, 37.7 cM
• Alliance: Pla2g6^tm1.1Hlw page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:317126
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129/Sv

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: A GAC to TAC change resulting in an aspartate to tyrosine substitution at amino acid 331 (D331Y) was generated in exon 7. A loxP-flanked neomycin selection cassette was inserted 401 nucleotides downstream of the start of exon 7. The neomycin selection cassette was removed via cre-mediated recombination. The p.Asp331Tyr is thought to be the causative mutation of Parkinson's disease 14 in patients. Western blot analysis confirmed similar cytosolic or mitochondrial protein expression as in wild-type mice, however enzyme activity is significantly decreased in the substantia nigra indicting loss of function. (J:317126)

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 Pla2g6 Mutation: 67 strains or lines available

References

• Original: J:317126 Chiu CC, et al., PARK14 (D331Y) PLA2G6 Causes Early-Onset Degeneration of Substantia Nigra Dopaminergic Neurons by Inducing Mitochondrial Dysfunction, ER Stress, Mitophagy Impairment and Transcriptional Dysregulation in a Knockin Mouse Model. Mol Neurobiol. 2019 Jun;56(6):3835-3853
• All: 1 reference(s)