Pnpla3^tm2.1Hobb
Targeted Allele Detail

Summary

• Symbol: Pnpla3^tm2.1Hobb
• Name: patatin-like phospholipase domain containing 3; targeted mutation 2.1, Helen H Hobbs
• MGI ID: MGI:6197540
• Synonyms: Pnpla3^148M
• Gene: Pnpla3 Location: Chr15:84052038-84071437 bp, + strand Genetic Position: Chr15, 39.78 cM, cytoband E3
• Alliance: Pnpla3^tm2.1Hobb page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:264475
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Not Specified)
• Mutation: Single point mutation
• Mutation details: Exon 3 was replaced with one containing an isoleucine (ATT) to methionine (ATG) substitution at codon 148 (I148M). A neomycin selection cassette flanked by loxP sites was removed via cre-mediated recombination, leaving one loxP site in the flanking intron. RT-PCR confirmed that transcript expression is similar to wild-type levels. (J:264475)

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 Pnpla3 Mutation: 28 strains or lines available

References

• Original: J:264475 Smagris E, et al., Pnpla3I148M knockin mice accumulate PNPLA3 on lipid droplets and develop hepatic steatosis. Hepatology. 2015 Jan;61(1):108-18
• All: 3 reference(s)