Pcca<tm1Tmiy> Targeted Allele Detail MGI Mouse (MGI:2180816)

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)

Phenotypes

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

Disease models

Expression

In Structures Affected by this Mutation:

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)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/19/2024 MGI 6.24