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

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1  Disease Model	Pcca^tm1Tmiy/Pcca^tm1Tmiy	involves: 129P2/OlaHsd * C57BL/6
cx2  Disease Model	Pcca^tm1Tmiy/Pcca^tm1Tmiy Tg(CAG-PCCA*A138T,-EGFP)#Miab/0	involves: 129P2/OlaHsd * FVB/N

Phenotypes:

Affected Systems	hm1	cx2
show or hide all annotated terms Sex:
behavior/neurological	√
absent gastric milk in neonates	√
abnormal stationary movement	√
cardiovascular system		√	√
enlarged heart		√	√
decreased cardiac muscle contractility			√
ventricular premature beat			√
abnormal myocardial fiber physiology			√
decreased calcium uptake by cardiac muscle			√
cellular		√	√
oxidative stress			√
maternal effect		√	√
growth/size/body		√	√
enlarged heart		√	√
decreased body size		√	√
postnatal growth retardation		√	√
homeostasis/metabolism	√	√	√
abnormal circulating carnitine level		√	√
increased circulating alanine level		√	√
increased circulating glycine level		√	√
increased lysine level		√	√
increased circulating ammonia level		√	√
dehydration	√
decreased liver glycogen level	√
ketoaciduria	√
abnormal enzyme/coenzyme activity		√	√
integument	√
dry skin	√
liver/biliary system	√
decreased liver glycogen level	√
hepatic steatosis	√
mortality/aging	√	√	√
decreased survivor rate		√	√
postnatal lethality, complete penetrance	√
muscle			√
decreased cardiac muscle contractility			√
renal/urinary system	√
ketoaciduria	√
dilated kidney collecting duct	√
renal cast	√
abnormal urination	√

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

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	hm1	cx2
propionic acidemia IDs propionic acidemia       DOID:14701 DOID:14706 ICD10CM:E71.121 MESH:D056693 NCI:C85030 OMIM:606054 UMLS_CUI:C0268579 UMLS_CUI:C2717876 Close	√	√

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)