Ppargc1atm1Dpk
Targeted Allele Detail
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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
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Alliance: |
Ppargc1atm1Dpk page
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Hepatic steatosis develops in fasted Ppargc1atm1Dpk/Ppargc1atm1Dpk mice
Show the 2 phenotype image(s) involving this allele.
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Germline Transmission: |
Earliest citation of germline transmission:
J:96306
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Parent Cell Line: |
RW-4 (ES Cell)
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Strain of Origin: |
129X1/SvJ
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Allele Type: |
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Targeted (Null/knockout) |
Mutations: |
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Insertion, Other
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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)
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View phenotypes and curated references for all genotypes (concatenated display).
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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) |
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