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Uqcrfs1tm1Ctm
Targeted Allele Detail
Nomenclature
Symbol: Uqcrfs1tm1Ctm
Name: ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1; targeted mutation 1, Carlos T Moraes
MGI ID: MGI:3819772
Gene: Uqcrfs1  Location: Chr13:30540308-30545362 bp, - strand  Genetic Position: Chr13, 13.23 cM, cytoband A3.3
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:141714
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted (Conditional ready, No functional change)
Mutation:    Insertion
 
Mutation detailsThe 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)
Phenotypes
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Uqcrfs1 Mutation:  2 strains or lines available
Notes
Phenotypic Similarity to Human Syndrome: Mitochondrial Complex III Deficiency in homozygous mice carrying Tg(Camk2a-cre)#Szi (J:188773)

References
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
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory