Coq9^tm1.1Lcl
Targeted Allele Detail

Summary

• Symbol: Coq9^tm1.1Lcl
• Name: coenzyme Q9; targeted mutation 1.1, Luis C Lopez
• MGI ID: MGI:5473628
• Synonyms: Coq9^R239X, Coq9^X
• Gene: Coq9 Location: Chr8:95565041-95581523 bp, + strand Genetic Position: Chr8, 46.89 cM
• Alliance: Coq9^tm1.1Lcl page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:193288
• Parent Cell Line: iTL IC1 (ES Cell)
• Strain of Origin: C57BL/6NTac

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Exon 7 was replaced with a modified exon 7 in which nucleotide substitutions result in the amino acid substitution of a stop codon for arginine at position 239 (R239X). Flp-mediated recombination removed the frt-flanked neo cassette inserted downstream of the modified exon 7. Western blot analysis confirmed the absence of protein expression in the heart. (J:193288)

Disease models

Expression

In Mice Carrying this Mutation:	104036 assay results 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	5 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 Coq9 Mutation: 24 strains or lines available

References

• Original: J:193288 Garcia-Corzo L, et al., Dysfunctional Coq9 protein causes predominant encephalomyopathy associated with CoQ deficiency. Hum Mol Genet. 2013 Mar 15;22(6):1233-48
• All: 6 reference(s)