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

Symbol: Ppargc1atm1Dpk Name: peroxisome proliferative activated receptor, gamma, coactivator 1 alpha; targeted mutation 1, Daniel P Kelly MGI ID: MGI:3522468 Synonyms: PGC-1alpha- Gene: Ppargc1a  Location: Chr5:51611592-51725068 bp, - strand  Genetic Position: Chr5, 27.02 cM, cytoband C1 Alliance: Ppargc1atm1Dpk page

Hepatic steatosis develops in fasted Ppargc1atm1Dpk/Ppargc1atm1Dpk mice Show the 2 phenotype image(s) involving this allele.

Germline Transmission:	Earliest citation of germline transmission: J:96306
Parent Cell Line:	RW-4 (ES Cell)
Strain of Origin:	129X1/SvJ

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Other   Mutation details: The targeting event for this knock-out resulted in a 3 prime end recombination and an insertion on the 5 prime end causing an additional exon 3 in the allele downstream of exon 5. This additional exon 3 causes a premature stop codon at amino acid 255 and an unstable transcript (no smaller proteins were identified by Western blot analysis). RT-PCR, Northern and Western blot analysis confirmed the absence of a stable transcript and no detectable protein. (J:96306)

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

In Mice Carrying this Mutation:	2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	17 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 Ppargc1a Mutation:	47 strains or lines available

Original:	J:96306 Leone TC, et al., PGC-1alpha Deficiency Causes Multi-System Energy Metabolic Derangements: Muscle Dysfunction, Abnormal Weight Control and Hepatic Steatosis. PLoS Biol. 2005 Mar 15;3(4):e101
All:	26 reference(s)