Pm20d1^em1Brsp
Endonuclease-mediated Allele Detail

Summary

• Symbol: Pm20d1^em1Brsp
• Name: peptidase M20 domain containing 1; endonuclease-mediated mutation 1, Bruce M. Spiegelman
• MGI ID: MGI:6162684
• Synonyms: PM20D1-KO
• Gene: Pm20d1 Location: Chr1:131725122-131749210 bp, + strand Genetic Position: Chr1, 57.19 cM
• Alliance: Pm20d1^em1Brsp page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 targeting is used to introduce an out-of-frame deletion of 6 basepairs in exon 1 that results in the conversion of a phenylalanine codon into a premature stop codon (TTC-->TAG). Sanger sequencing confirmed the presence of a new T-A junction and a new stop codon in exon 1 at the 43rd amino acid position. qPCR analysis confirmed the modification was present in its mRNA. Shotgun proteomics confirmed selective loss of PM20D1 protein from liver. (J:264104)

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 Pm20d1 Mutation: 29 strains or lines available

References

• Original: J:264104 Long JZ, et al., Ablation of PM20D1 reveals N-acyl amino acid control of metabolism and nociception. Proc Natl Acad Sci U S A. 2018 Jul 17;115(29):E6937-E6945
• All: 2 reference(s)