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Gene: Sco2 MGI:3818630

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
SCO2 cytochrome c oxidase assembly protein
Synonyms:
N/A

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Sco2 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 Sco2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Facial diplegia, Abnormal circulating creatine kinase concentration, Steppage gait, Abnormal circ... ORPHA:521411
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased serum pyruvate, Hepatomegaly OMIM:604377
Myopia 6
OMIM:608908

The table below shows human diseases predicted to be associated to Sco2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Episodic Muscle Weakness, X-Linked
Muscle weakness OMIM:300211
Myopathy, Vacuolar, With Casq1 Aggregates
Elevated circulating creatine kinase concentration, Muscle weakness, Proximal muscle weakness OMIM:616231
Idiopathic Copper-Associated Cirrhosis
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... ORPHA:209919
Macrophagic Myofasciitis
Fatigue, Generalized muscle weakness, Arthralgia, Myalgia ORPHA:592
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Facial diplegia, Abnormal circulating creatine kinase concentration, Steppage gait, Abnormal circ... ORPHA:521411
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Proximal muscle weakness, Generalized muscle ... OMIM:615883
Genetic Hyperferritinemia Without Iron Overload
Fatigue, Increased circulating ferritin concentration, Abnormal serum iron concentration, Arthral... ORPHA:254704
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Fatigue, Splenomegaly, Abnormality of iron homeostasis, Muscle wea... ORPHA:75563
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Fatigue, Shoulder girdle muscle weakness, Neck muscle weakness, Proximal muscle weakness OMIM:619477
Mednik Syndrome
Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin... ORPHA:171851
Huppke-Brendel Syndrome
Inability to walk, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe... OMIM:614482
Iron Overload, Susceptibility To
Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated circulati... OMIM:620121
Congenital Disorder Of Glycosylation, Type Iiq
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... OMIM:617395
Irida Syndrome
Intrahepatic cholestasis, Decreased circulating copper concentration ORPHA:209981
Cog2-Cdg
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, De... ORPHA:435934
Mitochondrial Myopathy With Lactic Acidosis
Increased serum pyruvate, Fatigue, Proximal muscle weakness, Gowers sign, Dysmetria, Tip-toe gait OMIM:251950
Hjv Or Hamp-Related Hemochromatosis
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated transferrin saturation, Incr... ORPHA:79230
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Fatigue, Elevated circulating creatine kinase concentration, Gowers sign, Upper li... ORPHA:209335
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Loss of ambulation, Fatigue, Elevated circulating creatine kinase concentration, Proximal muscle ... OMIM:253601
Becker Muscular Dystrophy
Elevated hepatic transaminase, Exercise intolerance, Fatigue, Elevated circulating creatine kinas... ORPHA:98895
Aceruloplasminemia
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, At... ORPHA:48818
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Increased ser... OMIM:231100
Familial Benign Copper Deficiency
Decreased circulating copper concentration ORPHA:1551
Copper Deficiency, Familial Benign
Decreased circulating copper concentration OMIM:121270
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron, Cho... OMIM:603358
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... OMIM:242150
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Elevated transferrin saturation OMIM:205950
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat... OMIM:613313
Neonatal Hemochromatosis
Congenital hepatic fibrosis, Increased serum iron, Increased circulating ferritin concentration, ... ORPHA:446
Liddle Syndrome
Fatigue, Hypokalemia, Muscle weakness ORPHA:526
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... OMIM:616278
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Increased serum pyruvate, Progressive external ophthalmoplegia, Fatigue, Exercise intolerance, At... ORPHA:1349
Hypomagnesemia 6, Renal
Muscle weakness, Hypomagnesemia OMIM:613882
Hemochromatosis, Type 4
Fatigue, Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturat... OMIM:606069
Hemochromatosis, Type 3
Elevated hepatic transaminase, Fatigue, Increased circulating ferritin concentration, Elevated tr... OMIM:604250
Wilson Disease
Acute hepatic failure, Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypourice... OMIM:277900
Pediatric Hepatocellular Carcinoma
Fatigue, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Abdominal pain, Port... ORPHA:33402
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce... OMIM:300972
Acute Transverse Myelitis
Back pain, Fatigue, Decreased circulating copper concentration, Urinary incontinence, Upper limb ... ORPHA:139417
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration OMIM:620306
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Fatigue, Gowers sign, Elevated circulating creatine kinase concentration, Proximal muscle weakness OMIM:613157
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, High nonceruloplasmin-bound serum copper ORPHA:457351
Beta-Thalassemia
Hepatomegaly, Splenomegaly, Hepatitis, Abnormality of iron homeostasis, Cholelithiasis, Muscle we... ORPHA:848
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... ORPHA:53693
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Fatigue, Increased serum prostaglandin E2, Hypokalemia, Increased circulating renin level, Abnorm... OMIM:241150
Symptomatic Form Of Hfe-Related Hemochromatosis
Fatigue, Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Hepatocellular carcinoma, Abdomin... ORPHA:465508
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Fatigue, Hypertriglyceridemia, Splenomegaly, Hyperur... OMIM:306000
Dubin-Johnson Syndrome
Fatigue, Hepatomegaly, Abdominal pain, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abn... ORPHA:234
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Steppage gait, Increased total ir... OMIM:613280
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased serum iron, Elevated hepatic iron concentration OMIM:206100
Autosomal Dominant Hypophosphatemic Rickets
Fatigue, Bone pain, Hypocalcemia, Hypophosphatemia, Muscle weakness ORPHA:89937
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... ORPHA:139507
Zinc Deficiency, Transient Neonatal
Decreased serum zinc OMIM:608118
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, C... OMIM:602390
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin concentration, Incr... ORPHA:766
Drug-Induced Autoimmune Hemolytic Anemia
Fatigue, Splenomegaly, Muscle weakness, Increased total bilirubin ORPHA:90037
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Fatigue, Increased circulating ferritin concentration, Hepatosplen... ORPHA:300298
Aceruloplasminemia
Increased circulating ferritin concentration, Ataxia, Aceruloplasminemia, Decreased serum iron OMIM:604290
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... ORPHA:309854
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Fatigue, Increased serum iron, Increased total iron binding capaci... ORPHA:98870
Congenital Isolated Acth Deficiency
Hyponatremia, Fatigue, Hyperkalemia, Hepatitis, Prolonged neonatal jaundice ORPHA:199296
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin conce... OMIM:615234
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Increased serum zinc OMIM:601979
Hypocalciuric Hypercalcemia, Familial, Type Iii
Fatigue, Hypercalcemia, Hypermagnesemia, Bone pain, Hypophosphatemia, Pancreatitis, Muscle weakness OMIM:600740
Beta-Thalassemia Intermedia
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenomegaly, Abnormality o... ORPHA:231222
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Abdominal pain, Increased circulating ferritin conce... OMIM:235200
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Hep... ORPHA:101330
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Int... OMIM:617093
Occipital Horn Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration OMIM:304150
Slc39A8-Cdg
Poor head control, Abnormal blood zinc concentration, Inability to walk, Abnormality of the liver... ORPHA:468699
Dominant Beta-Thalassemia
Hepatocellular carcinoma, Hypersplenism, Splenomegaly, Jaundice, Chronic hepatitis, Hepatosplenom... ORPHA:231226
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Ataxia ORPHA:31
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Hepatomegaly, Decreased serum zinc, Ataxia OMIM:201100
Wrinkly Skin Syndrome
Progressive cerebellar ataxia, High nonceruloplasmin-bound serum copper ORPHA:2834
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Decreased serum zinc, Hepatic fib... ORPHA:541423
Trichohepatoenteric Syndrome 1
Hepatomegaly, Abnormality of the pancreas, Splenomegaly, Jaundice, Cholestasis, Increased serum i... OMIM:222470
Beta-Thalassemia Major
Hepatomegaly, Hepatocellular carcinoma, Hypersplenism, Splenomegaly, Jaundice, Hepatosplenomegaly... ORPHA:231214
Lysinuric Protein Intolerance
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Hyperalanin... ORPHA:470
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Decreased circulating carnitine conc... ORPHA:89842
Syndromic Diarrhea
Hepatomegaly, Splenomegaly, Abnormality of the liver, Hepatic fibrosis, Abnormality of iron homeo... ORPHA:84064
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Decreased plasma total carnitine, Decreased serum zinc, Chronic pain, Abnormal circulating seleni... ORPHA:79408
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased serum pyruvate, Hepatomegaly OMIM:604377
Myopia 6
OMIM:608908

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 Sco2

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 Sco2.

No publications found that use IMPC mice or data for Sco2.

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