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| Nomenclature |
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Symbol:
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Ppargc1atm1Dpk
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Name:
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peroxisome proliferative activated receptor, gamma, coactivator 1 alpha;
targeted mutation 1, Daniel P Kelly
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MGI ID: |
MGI:3522468 |
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Synonyms: |
PGC-1alpha- |
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Gene:
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Ppargc1a
Location:
Chr5:51454249-51567725 bp, - strand
Genetic Position: Chr5,
27.02 cM, cytoband C1
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Hepatic steatosis develops in fasted Ppargc1atm1Dpk/Ppargc1atm1Dpk mice
Show the 2 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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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:
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129X1/SvJ
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
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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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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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
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All: |
14 reference(s)
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Analysis Tools
