Uqcrfs1^tm1Ctm
Targeted Allele Detail

Summary

• Symbol: Uqcrfs1^tm1Ctm
• Name: ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1; targeted mutation 1, Carlos T Moraes
• MGI ID: MGI:3819772
• Gene: Uqcrfs1 Location: Chr13:30724295-30729299 bp, - strand Genetic Position: Chr13, 13.23 cM, cytoband A3.3
• Alliance: Uqcrfs1^tm1Ctm page

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 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)

Disease models

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

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: 19 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)