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| Nomenclature |
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Symbol:
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Uqcrfs1tm1Ctm
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Name:
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ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1;
targeted mutation 1, Carlos T Moraes
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MGI ID: |
MGI:3819772 |
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Gene:
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Uqcrfs1
Location:
Chr13:30540308-30545362 bp, - strand
Genetic Position: Chr13,
13.23 cM, cytoband A3.3
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:141714
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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Not Specified
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Mutation
description |
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Allele
Type: | |
Targeted (Floxed/Frt) |
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Mutation: | |
Insertion |
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Mutation details: The exon 2 was flanked by loxP sites and a neomycin/thymidine kinase cassette was inserted in the 3' untranslated region via homologous recombination. Western blot analysis detected decreased protein levels in skin but not muscle, heart, brain or liver from homozygotes. (J:141714)
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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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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Uqcrfs1 Mutation:
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3 strains or lines available |
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Notes |
Phenotypic Similarity to Human Syndrome: Mitochondrial Complex III Deficiency in homozygous mice carrying Tg(Camk2a-cre)#Szi (J:188773)
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| References |
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Original: |
J:141714
Garcia S et al.,
"A 3' UTR modification of the mitochondrial rieske iron sulfur protein in mice produces a specific skin pigmentation phenotype."
J Invest Dermatol 2008 Sep;128(9):2343-5
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All: |
2 reference(s)
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Analysis Tools
