Pcca^tm1Tmiy
Targeted Allele Detail

Summary

• Symbol: Pcca^tm1Tmiy
• Name: propionyl-Coenzyme A carboxylase, alpha polypeptide; targeted mutation 1, Toru Miyazaki
• MGI ID: MGI:2180816
• Synonyms: Pcca -
• Gene: Pcca Location: Chr14:122771736-123128512 bp, + strand Genetic Position: Chr14, 65.99 cM
• Alliance: Pcca^tm1Tmiy page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:71660
• Parent Cell Line: E14.1 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A neo cassette was used to replace ~ 2 kb of the gene, which contains exons that encode the N-terminal region of the protein. Northern analysis failed to detect transcript and there was an absence of enzymatic activity in homozygous mutant animals. (J:71660)

Disease models

Expression

In Structures Affected by this Mutation:

2 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 Pcca Mutation: 42 strains or lines available

References

• Original: J:71660 Miyazaki T, et al., Fatal propionic acidemia in mice lacking propionyl-CoA carboxylase and its rescue by postnatal, liver-specific supplementation via a transgene. J Biol Chem. 2001 Sep 21;276(38):35995-9
• All: 7 reference(s)