Pnpla1^tm1.1Fpwr
Targeted Allele Detail

Summary

• Symbol: Pnpla1^tm1.1Fpwr
• Name: patatin-like phospholipase domain containing 1; targeted mutation 1.1, Franz PW Radner
• MGI ID: MGI:5904454
• Gene: Pnpla1 Location: Chr17:29077385-29109283 bp, + strand Genetic Position: Chr17, 15.03 cM
• Alliance: Pnpla1^tm1.1Fpwr page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:240053
• Parent Cell Line: HM-1 (ES Cell)
• Strain of Origin: 129P2/OlaHsd-Hprt1^b-m3

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A floxed neomycin resistance cassette was inserted upstream of exon 1. An additional loxP site was inserted downstream of exon 1. Cre-mediated recombination removed the selection cassette and exon 1. Western blot analysis confirmed the absence of protein expression in epidermal lysates. (J:240053)

Expression

In Structures Affected by this Mutation:

4 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 Pnpla1 Mutation: 28 strains or lines available

References

• Original: J:240053 Grond S, et al., PNPLA1 Deficiency in Mice and Humans Leads to a Defect in the Synthesis of Omega-O-Acylceramides. J Invest Dermatol. 2017 Feb;137(2):394-402
• All: 1 reference(s)