Pcmt1^tm1Shs
Targeted Allele Detail

Summary

• Symbol: Pcmt1^tm1Shs
• Name: protein-L-isoaspartate (D-aspartate) O-methyltransferase 1; targeted mutation 1, Takuji Shirasawa
• MGI ID: MGI:2384158
• Synonyms: PIMT-
• Gene: Pcmt1 Location: Chr10:7505137-7556900 bp, - strand Genetic Position: Chr10, 2.26 cM
• Alliance: Pcmt1^tm1Shs page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:46228
• Parent Cell Line: E14 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exons 2 and 3 were replaced with a neomycin selection cassette. The deleted region encoded amino acids 19 through 64. The absence of transcript and protein was determined by RNAse protection and Western blot analyses of homozygous mutant brains and testes. Methyltransferase activity assays showed activity to be ablated in lysates of brain, testis, and eye tissue and reduced in renal lysates. Other enzymes were believed to be responsible for the activity observed in the kidney. (J:46228)

Expression

In Structures Affected by this Mutation:

7 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Pcmt1 Mutation: 40 strains or lines available

References

• Original: J:46228 Yamamoto A, et al., Deficiency in protein L-isoaspartyl methyltransferase results in a fatal progressive epilepsy. J Neurosci. 1998 Mar 15;18(6):2063-74
• All: 3 reference(s)