Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Pccatm1Tmiy
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:	Pccatm1Tmiy page

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

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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

2 anatomical structure(s)

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

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)