Coq9<tm1.1Lcl> Targeted Allele Detail MGI Mouse (MGI:5473628)

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Coq9^tm1.1Lcl
Targeted Allele Detail

Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

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)

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

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: 1 strain available Cell Lines: 0 lines available
Carrying any Coq9 Mutation:	27 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)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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