STOCK Coq9^tm1.1Lcl/Cnbc

Status	Available to order
EMMA ID	EM:15277
Citation information	RRID:IMSR_EM:15277 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information.
International strain name	STOCK Coq9^tm1.1Lcl/Cnbc
Alternative name	Coq9R239X
Strain type	Targeted Mutant Strains : Knock-out
Allele/Transgene symbol	Coq9^tm1.1Lcl
Gene/Transgene symbol	Coq9

Information from provider

Provider	Luis López
Provider affiliation	Centro de Investigación Biomédica, lab 131, University of Granada
Genetic information	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) (https://www.informatics.jax.org/allele/MGI:5473628).
Phenotypic information	Homozygous: Mitochondrial encephalopathy due to coenzyme Q9 deficiency, causing early death between 2.5 and 7 months of age. The phenotype of homozygous mutant mice resembles the clinical features of Leigh syndrome. Heterozygous: No observed phenotype. Similar to wild-type mice.
Breeding history	Flp-mediated recombination removed the frt-flanked neo cassette inserted downstream of the modified exon 7. After that, breeding between heterozygous mice.
References	CoQ deficiency causes disruption of mitochondrial sulfide oxidation, a new pathomechanism associated with this syndrome.;Luna-Sánchez Marta, Hidalgo-Gutiérrez Agustín, Hildebrandt Tatjana M, Chaves-Serrano Julio, Barriocanal-Casado Eliana, Santos-Fandila Ángela, Romero Miguel, Sayed Ramy Ka, Duarte Juan, Prokisch Holger, Schuelke Markus, Distelmaier Felix, Escames Germaine, Acuña-Castroviejo Darío, López Luis C, ;2017;EMBO molecular medicine;9;78-95; 27856619 Dysfunctional Coq9 protein causes predominant encephalomyopathy associated with CoQ deficiency.;García-Corzo Laura, Luna-Sánchez Marta, Doerrier Carolina, García José A, Guarás Adela, Acín-Pérez Rebeca, Bullejos-Peregrín Javier, López Ana, Escames Germaine, Enríquez José A, Acuña-Castroviejo Darío, López Luis C, ;2013;Human molecular genetics;22;1233-48; 23255162 The Q-junction and the inflammatory response are critical pathological and therapeutic factors in CoQ deficiency.;González-García Pilar, Díaz-Casado María Elena, Hidalgo-Gutiérrez Agustín, Jiménez-Sánchez Laura, Bakkali Mohammed, Barriocanal-Casado Eliana, Escames Germaine, Chiozzi Riccardo Zenezini, Völlmy Franziska, Zaal Esther A, Berkers Celia R, Heck Albert J R, López Luis C, ;2022;Redox biology;55;102403; 35863266 The clinical heterogeneity of coenzyme Q10 deficiency results from genotypic differences in the Coq9 gene.;Luna-Sánchez Marta, Díaz-Casado Elena, Barca Emanuele, Tejada Miguel Ángel, Montilla-García Ángeles, Cobos Enrique Javier, Escames Germaine, Acuña-Castroviejo Dario, Quinzii Catarina M, López Luis Carlos, ;2015;EMBO molecular medicine;7;670-87; 25802402 β-RA reduces DMQ/CoQ ratio and rescues the encephalopathic phenotype in Coq9^R239X mice.;Hidalgo-Gutiérrez Agustín, Barriocanal-Casado Eliana, Bakkali Mohammed, Díaz-Casado M Elena, Sánchez-Maldonado Laura, Romero Miguel, Sayed Ramy K, Prehn Cornelia, Escames Germaine, Duarte Juan, Acuña-Castroviejo Darío, López Luis C, ;2019;EMBO molecular medicine;11;; 30482867
Homozygous fertile	not known
Homozygous viable	yes
Homozygous matings required	no
Immunocompromised	no

Information from EMMA

Archiving centre	CNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome / Orphanet_319678

MGI phenotypes (gene matching)

myopathy / MGI
hindlimb paralysis / MGI
demyelination / MGI
decreased body weight / MGI
weight loss / MGI
decreased body size / MGI
hypoactivity / MGI
abnormal gait / MGI
premature death / MGI
gliosis / MGI
spongiform encephalopathy / MGI
decreased vertical activity / MGI
cardiac fibrosis / MGI
increased neuron apoptosis / MGI
astrocytosis / MGI
oxidative stress / MGI
premature hair loss / MGI
abnormal enzyme/coenzyme level / MGI
abnormal mitochondrial physiology / MGI
brain vacuoles / MGI
abnormal dendrite morphology / MGI
abnormal mitochondrial ATP synthesis coupled electron transport / MGI

Literature references

CoQ deficiency causes disruption of mitochondrial sulfide oxidation, a new pathomechanism associated with this syndrome.;Luna-Sánchez Marta, Hidalgo-Gutiérrez Agustín, Hildebrandt Tatjana M, Chaves-Serrano Julio, Barriocanal-Casado Eliana, Santos-Fandila Ángela, Romero Miguel, Sayed Ramy Ka, Duarte Juan, Prokisch Holger, Schuelke Markus, Distelmaier Felix, Escames Germaine, Acuña-Castroviejo Darío, López Luis C, ;2017;EMBO molecular medicine;9;78-95; 27856619
Dysfunctional Coq9 protein causes predominant encephalomyopathy associated with CoQ deficiency.;García-Corzo Laura, Luna-Sánchez Marta, Doerrier Carolina, García José A, Guarás Adela, Acín-Pérez Rebeca, Bullejos-Peregrín Javier, López Ana, Escames Germaine, Enríquez José A, Acuña-Castroviejo Darío, López Luis C, ;2013;Human molecular genetics;22;1233-48; 23255162
The Q-junction and the inflammatory response are critical pathological and therapeutic factors in CoQ deficiency.;González-García Pilar, Díaz-Casado María Elena, Hidalgo-Gutiérrez Agustín, Jiménez-Sánchez Laura, Bakkali Mohammed, Barriocanal-Casado Eliana, Escames Germaine, Chiozzi Riccardo Zenezini, Völlmy Franziska, Zaal Esther A, Berkers Celia R, Heck Albert J R, López Luis C, ;2022;Redox biology;55;102403; 35863266
The clinical heterogeneity of coenzyme Q10 deficiency results from genotypic differences in the Coq9 gene.;Luna-Sánchez Marta, Díaz-Casado Elena, Barca Emanuele, Tejada Miguel Ángel, Montilla-García Ángeles, Cobos Enrique Javier, Escames Germaine, Acuña-Castroviejo Dario, Quinzii Catarina M, López Luis Carlos, ;2015;EMBO molecular medicine;7;670-87; 25802402
β-RA reduces DMQ/CoQ ratio and rescues the encephalopathic phenotype in Coq9^R239X mice.;Hidalgo-Gutiérrez Agustín, Barriocanal-Casado Eliana, Bakkali Mohammed, Díaz-Casado M Elena, Sánchez-Maldonado Laura, Romero Miguel, Sayed Ramy K, Prehn Cornelia, Escames Germaine, Duarte Juan, Acuña-Castroviejo Darío, López Luis C, ;2019;EMBO molecular medicine;11;; 30482867

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STOCK Coq9tm1.1Lcl/Cnbc