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Gene: Cox20 MGI:1913609

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Gene Summary

Name:
cytochrome c oxidase assembly protein 20
Synonyms:
Fam36a,  2310005N03Rik

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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
small kidney Cox20em1(IMPC)Tcp HET Late adult 0.00
embryonic lethality prior to organogenesis Cox20em1(IMPC)Tcp HOM   E9.5 0.00
abnormal lung morphology Cox20em1(IMPC)Tcp HET Early adult 0.00
prenatal lethality prior to heart atrial septation Cox20em1(IMPC)Tcp HOM   E15.5 0.00
increased startle reflex Cox20em1(IMPC)Tcp HET Early adult 1.83×10-05
preweaning lethality, complete penetrance Cox20em1(IMPC)Tcp HOM   Early adult 0.00
abnormal stomach morphology Cox20em1(IMPC)Tcp HET Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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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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Eye Morphology

Images Ophthalmoscopy

130 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

10 Images

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Gross Pathology and Tissue Collection

Images

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Histopathology

Images

17 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

3 Images

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Human diseases caused by Cox20 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 Cox20 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Choreoathetosis, Torticollis, Limb dystonia OMIM:619054

The table below shows human diseases predicted to be associated to Cox20 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Alpha-1-Antitrypsin Deficiency
Gastric varix, Panacinar emphysema, Hepatocellular carcinoma, Bronchiectasis, Chronic bronchitis OMIM:613490
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology ORPHA:2978
Bronchogenic Cyst
Bronchogenic cyst, Abnormal stomach morphology, Atelectasis, Abnormal esophagus morphology, Dysph... ORPHA:2357
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Serrated Polyposis Syndrome
Gastric diverticulum, Colorectal polyposis, Biliary tract neoplasm, Neoplasm of the large intesti... ORPHA:157798
Hyperekplexia 2
Hiatus hernia, Exaggerated startle response, Gastroesophageal reflux OMIM:614619
Hyperekplexia 3
Hiatus hernia, Exaggerated startle response, Gastroesophageal reflux OMIM:614618
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ... OMIM:619350
Nk-Cell Enteropathy
Duodenal ulcer, Gastroesophageal reflux, Abnormal gastric mucosa morphology, Colonic diverticula,... ORPHA:263665
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Gastric varix, Esophageal varix, Usual interstitial pneumonia, Pulmonary fibrosis OMIM:620367
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Ménétrier Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Giant hypertrophic gastriti... ORPHA:2494
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Congenital Tracheal Stenosis
Abnormal lung lobation, Anomalous origin of left pulmonary artery from ascending aorta, Meckel di... ORPHA:141127
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Spontaneous esophageal perforation, Abnormality of the gastro... ORPHA:1876
Intrinsic Factor Deficiency
Absence of intrinsic factor OMIM:261000
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology ORPHA:281090
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Systemic Sclerosis
Abnormal pulmonary interstitial morphology, Abnormality of the gastrointestinal tract, Gastroesop... ORPHA:90291
Ornithine Transcarbamylase Deficiency
Pyloric stenosis ORPHA:664
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Oculogyric crisis, Gastroesophageal reflux, Athetosis, Blepharospasm, Limb dystonia,... OMIM:608643
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Pyloric stenosis, Congenital shortened small intestine, Intestinal pseudo... OMIM:300048
Microgastria-Limb Reduction Defect Syndrome
Abnormal lung lobation, Esophageal atresia, Rectovaginal fistula, Gastroesophageal reflux, Microg... ORPHA:2538
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Tremor, Dystonia, Abnormal duodenum morphology, Abnormal stomach mor... ORPHA:512
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Gastroesophageal reflux OMIM:620114
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia ORPHA:2617
Immunodeficiency, Common Variable, 10
Recurrent viral upper respiratory tract infections, Pyloric stenosis, Recurrent pneumonia, Recurr... OMIM:615577
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hepatoportal Sclerosis
Gastric varix, Esophageal varix, Gastrointestinal hemorrhage, Hepatocellular carcinoma ORPHA:64743
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Gastroesophageal reflux OMIM:608800
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, High palate, Exaggerated startle response OMIM:618056
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Esophageal Atresia
Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Bronchiti... ORPHA:1199
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Esophageal atresia, Congenital pyloric atresia OMIM:226730
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Reynolds Syndrome
Abnormal gastric mucosa morphology, Dysphagia, Xerostomia, Gastroesophageal reflux ORPHA:779
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Tay-Sachs Disease
Tremor, Exaggerated startle response, Aspiration pneumonia, Dystonia, Dysphagia, Laryngeal dystonia ORPHA:845
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, High palate, Exaggerated startle response ORPHA:438216
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Glycine Encephalopathy With Normal Serum Glycine
Dysphagia, Exaggerated startle response OMIM:617301
Gm1 Gangliosidosis Type 1
Macroglossia, Exaggerated startle response, Aspiration pneumonia ORPHA:79255
Plaa-Associated Neurodevelopmental Disorder
Impaired oropharyngeal swallow response, High palate, Dystonia, Exaggerated startle response ORPHA:521426
Sandhoff Disease
Macroglossia, Exaggerated startle response OMIM:268800
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response, Gastroesophageal reflux OMIM:615574
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
High palate, Dysphagia, Exaggerated startle response OMIM:617527
Autosomal Recessive Cutis Laxa Type 1
Pneumothorax, Emphysema, Pyloric stenosis, Recurrent pneumonia, Small bowel diverticula, Peripher... ORPHA:90349
Knobloch Syndrome 2
Pyloric stenosis, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections OMIM:618458
Hardikar Syndrome
Hematemesis, Gastric varix, Cleft soft palate, Bilateral cleft palate, Esophageal varix, Unilater... OMIM:301068
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Combined Oxidative Phosphorylation Deficiency 58
Exaggerated startle response OMIM:620451
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Multiple Mitochondrial Dysfunctions Syndrome 7
Dystonia, Exaggerated startle response OMIM:620423
Junctional Epidermolysis Bullosa With Pyloric Atresia
Intestinal atresia, Congenital pyloric atresia ORPHA:79403
Viss Syndrome
Pneumothorax, Pulmonary artery aneurysm, High, narrow palate, Emphysema, Cleft soft palate, Gastr... OMIM:619472
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Dysphagia, Exaggerated startle response OMIM:618367
Epidermolysis Bullosa Simplex With Pyloric Atresia
Congenital pyloric atresia ORPHA:158684
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Gastroesophageal reflux, Exaggerated startle response, Aspiration pneumonia, Dystonia, Dysphagia ORPHA:438213
Williams Syndrome
Peptic ulcer, Rectal prolapse, Gastroesophageal reflux, Tremor, Tracheoesophageal fistula, Abnorm... ORPHA:904
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
High palate, Dysphagia, Exaggerated startle response OMIM:619522
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Choreoathetosis, Torticollis, Limb dystonia OMIM:619054

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 Cox20

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 Cox20.

No publications found that use IMPC mice or data for Cox20.

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MGI Allele Allele Type Produced
Cox20tm380247(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cox20tm410623(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cox20em1(IMPC)Tcp Exon Deletion Mice, Tissue
Cox20tm55574(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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