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Gene: Coq7 MGI:107207

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Gene Summary

Name:
demethyl-Q 7
Synonyms:
clk-1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Coq7em1(IMPC)Hmgu HOM   Early adult 3.20×10-10

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Coq7 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Coq7 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Intrauterine growth retardation OMIM:616733

The table below shows human diseases predicted to be associated to Coq7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... OMIM:618378
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number ORPHA:457050
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV OMIM:619063
Hsd10 Mitochondrial Disease
Abnormal mitochondrial morphology OMIM:300438
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number ORPHA:352470
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Spastic Paraplegia Type 7
Abnormal mitochondrial morphology ORPHA:99013
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Combined Oxidative Phosphorylation Deficiency 18
Decreased activity of mitochondrial complex I, Intrauterine growth retardation, Increased mitocho... OMIM:615578
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology ORPHA:275872
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Decreased activity of mitochondrial complex I, Mitochondrial hypertrophy, Decreased activity of m... OMIM:500013
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Hydrocephalus ORPHA:31
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Caudal Duplication
Cryptorchidism, Myelomeningocele, Spina bifida ORPHA:1756
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number ORPHA:352447
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Schisis Association
Encephalocele, Anencephaly, Spina bifida ORPHA:63862
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida OMIM:207950
Muscular Dystrophy, Congenital, Megaconial Type
Mitochondrial hypertrophy OMIM:602541
Barth Syndrome
Abnormal mitochondrial morphology OMIM:302060
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly, Int... ORPHA:1908
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Intrauterine growth retardation OMIM:611134
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy OMIM:619518
Wildervanck Syndrome
Meningocele ORPHA:3456
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mitochondrial swelling ORPHA:397744
Meckel Syndrome, Type 2
Encephalocele, Intrauterine growth retardation, Meningocele, Anencephaly OMIM:603194
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Mitochondrial Complex I Deficiency, Nuclear Type 29
Decreased activity of mitochondrial complex I, Mitochondrial swelling OMIM:618250
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape ORPHA:412217
Humero-Radial Synostosis
Meningocele ORPHA:3265
Thoraco-Abdominal Enteric Duplication
Meningocele ORPHA:1759
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Combined Oxidative Phosphorylation Deficiency 19
Mitochondrial swelling OMIM:615595
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Friedreich Ataxia
Mitochondrial malic enzyme reduced, Decreased pyruvate carboxylase activity OMIM:229300
Triploidy
Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly, Intrauterine growth retardation ORPHA:3376
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity OMIM:150800
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number ORPHA:263297
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Spina bifida ORPHA:1327
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape ORPHA:543470
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex IV, Ab... ORPHA:17
Isolated Posterior Meningocele
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Fumarase Deficiency
Mitochondrial swelling, Decreased fumarate hydratase activity OMIM:606812
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Autosomal Recessive Spondylocostal Dysostosis
Cryptorchidism, Meningocele, Umbilical hernia, Spina bifida occulta, Intrauterine growth retardation ORPHA:2311
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida ORPHA:2437
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Fountain Syndrome
Spina bifida occulta, Spina bifida ORPHA:3219
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased methylmalonyl-CoA mutase activity, Hydrocephalus OMIM:277400
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele OMIM:614424
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased methylmalonyl-CoA mutase activity OMIM:277410
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Acromelic Frontonasal Dysplasia
Encephalocele, Cryptorchidism, Meningocele ORPHA:1827
Iniencephaly
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... ORPHA:63259
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Cerebrocostomandibular Syndrome
Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly, Intrauterine growth retardation ORPHA:1393
Methylmalonic Aciduria, Cblb Type
Decreased methylmalonyl-CoA mutase activity OMIM:251110
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida ORPHA:2839
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida ORPHA:1120
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele ORPHA:2031
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Methylmalonic Aciduria, Cbla Type
Decreased methylmalonyl-CoA mutase activity OMIM:251100
Lateral Meningocele Syndrome
Umbilical hernia, Meningocele, Cryptorchidism ORPHA:2789
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Lateral Meningocele Syndrome
Umbilical hernia, Hydrocephalus, Meningocele, Cryptorchidism OMIM:130720
Lumbar Syndrome
Cryptorchidism, Myelomeningocele, Spina bifida ORPHA:83628
Vacterl With Hydrocephalus
Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Intrauterine growth retardation ORPHA:3412
Chromosome 17P13.1 Deletion Syndrome
Hydrocele testis, Umbilical hernia, Hydrocephalus, Spina bifida OMIM:613776
Trisomy 20P
Macroorchidism, Umbilical hernia, Spina bifida, Cryptorchidism ORPHA:261318
Mitochondrial Dna-Associated Leigh Syndrome
Abnormality of Krebs cycle metabolism ORPHA:255210
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Spina bifida OMIM:616038
Trisomy 18
Spina bifida, Cryptorchidism, Anencephaly, Holoprosencephaly, Intrauterine growth retardation ORPHA:3380
Phakomatosis Pigmentokeratotica
Cryptorchidism, Spina bifida ORPHA:2874
Mosaic Trisomy 9
Intrauterine growth retardation, Spina bifida, Cryptorchidism ORPHA:99776
Pagod Syndrome
Encephalocele, Meningocele, Abnormal testis morphology, Spina bifida ORPHA:991
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Meningocele ORPHA:397715
Lathosterolosis
Intrauterine growth retardation, Meningocele ORPHA:46059
Limb Body Wall Complex
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Short umbilical cord, ... ORPHA:2369
Neu-Laxova Syndrome
Intrauterine growth retardation, Spina bifida ORPHA:2671
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Friedreich Ataxia 2
Mitochondrial malic enzyme reduced, Decreased pyruvate carboxylase activity OMIM:601992
Phocomelia, Schinzel Type
Intrauterine growth retardation, Meningocele, Cryptorchidism ORPHA:2879
Hallermann-Streiff Syndrome
Cryptorchidism, Spina bifida OMIM:234100
Nail-Patella Syndrome
Spina bifida OMIM:161200
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Occipital meningocele, Hydrocephalus, Anencephaly OMIM:616546
Fibular Hemimelia
Spina bifida ORPHA:93323
Focal Dermal Hypoplasia
Umbilical hernia, Spina bifida ORPHA:2092
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Neu-Laxova Syndrome 1
Spina bifida, Cryptorchidism, Stillbirth, Short umbilical cord, Small placenta, Neonatal death, H... OMIM:256520
22Q11.2 Deletion Syndrome
Spina bifida, Cryptorchidism, Hydrocephalus, Meningocele, Occipital myelomeningocele, Umbilical h... ORPHA:567
Fanconi Anemia
Spina bifida, Cryptorchidism, Hydrocephalus, Azoospermia, Umbilical hernia, Abnormal testis morph... ORPHA:84
Jacobsen Syndrome
Intrauterine growth retardation, Spina bifida, Cryptorchidism ORPHA:2308
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Koolen-De Vries Syndrome Due To A Point Mutation
Cryptorchidism, Hydrocephalus, Testicular neoplasm, Spina bifida ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cryptorchidism, Hydrocephalus, Testicular neoplasm, Spina bifida ORPHA:363958
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus ORPHA:573278
Orofaciodigital Syndrome Vi
Occipital meningocele OMIM:277170
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida ORPHA:508498
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Campomelic Dysplasia
Hydrocephalus, Spina bifida, Spinal dysraphism OMIM:114290
Aicardi Syndrome
Spina bifida OMIM:304050
Thrombocytopenia-Absent Radius Syndrome
Spina bifida OMIM:274000
Rubinstein-Taybi Syndrome 1
Bilateral cryptorchidism, Cryptorchidism, Spina bifida occulta, Spina bifida OMIM:180849
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Intrauterine growth retardation OMIM:616733
Knobloch Syndrome 1
Occipital meningocele, Occipital encephalocele, Spina bifida occulta OMIM:267750
Arima Syndrome
Occipital meningocele OMIM:243910
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Spina bifida OMIM:619480
Marfan Syndrome
Meningocele ORPHA:558
Vater/Vacterl Association
Occipital encephalocele, Spina bifida, Patent urachus, Intrauterine growth retardation OMIM:192350
Otopalatodigital Syndrome, Type Ii
Spina bifida, Cryptorchidism, Hydrocephalus, Stillbirth, Umbilical hernia OMIM:304120
Exstrophy-Epispadias Complex
Cryptorchidism, Hydrocephalus, Spina bifida ORPHA:322
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele, Cryptorchidism OMIM:276820

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Coq7

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Coq7.

No publications found that use IMPC mice or data for Coq7.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Coq7em1(IMPC)Hmgu Exon Deletion Mice
Coq7tm43536(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Coq7tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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