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Coq9tm1.1Lcl
Targeted Allele Detail
Nomenclature
Symbol: Coq9tm1.1Lcl
Name: coenzyme Q9; targeted mutation 1.1, Luis C Lopez
MGI ID: MGI:5473628
Synonyms: Coq9R239X, Coq9X
Gene: Coq9  Location: Chr8:94838321-94854895 bp, + strand  Genetic Position: Chr8, 46.89 cM
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 detailsExon 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 6 anatomical structures
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:  14 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:  4 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
05/08/2018
MGI 6.12
The Jackson Laboratory