Pcmt1^tm1Scl
Targeted Allele Detail

Summary

• Symbol: Pcmt1^tm1Scl
• Name: protein-L-isoaspartate (D-aspartate) O-methyltransferase 1; targeted mutation 1, Steven Clarke
• MGI ID: MGI:2384152
• Synonyms: Pcmt1-, PIMT^-
• Gene: Pcmt1 Location: Chr10:7505137-7556900 bp, - strand Genetic Position: Chr10, 2.26 cM
• Alliance: Pcmt1^tm1Scl page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:40967
• Parent Cell Line: RF8 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Mutation details: Exon 1 was replaced with a neomycin selection cassette after sequence encoding the first 6 amino acids. Western blot analysis of various tissues and assays of brain, heart, liver, and red blood cells showed that the absence of protein and methyltransferase activity in homozygous mutant mice. (J:40967)

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: 1 strain available Cell Lines: 0 lines available
• Carrying any Pcmt1 Mutation: 43 strains or lines available

References

• Original: J:40967 Kim E, et al., Deficiency of a protein-repair enzyme results in the accumulation of altered proteins, retardation of growth, and fatal seizures in mice. Proc Natl Acad Sci U S A. 1997 Jun 10;94(12):6132-7
• All: 20 reference(s)