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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
Abnormal circulating copper concentration, Lower limb muscle weakness, Steppage gait, Facial dipl... ORPHA:521411
Leigh Syndrome With Cardiomyopathy
Muscle weakness, Dystonia, Ataxia, Decreased liver function, Ophthalmoplegia ORPHA:70474
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
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
Myopathy, Vacuolar, With Casq1 Aggregates
Elevated circulating creatine kinase concentration, Muscle weakness, Proximal muscle weakness OMIM:616231
Mitochondrial Myopathy With A Defect In Mitochondrial-Protein Transport
Muscle weakness OMIM:251945
Episodic Muscle Weakness, X-Linked
Muscle weakness OMIM:300211
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Abnormal circulating copper concentration, Lower limb muscle weakness, Steppage gait, Facial dipl... ORPHA:521411
Macrophagic Myofasciitis
Generalized muscle weakness, Fatigue, Arthralgia, Myalgia ORPHA:592
Myopathy, Tubular Aggregate, 2
Muscle weakness, Hypocalcemia, Neck muscle weakness, Proximal muscle weakness, Generalized muscle... OMIM:615883
X-Linked Sideroblastic Anemia
Muscle weakness, Elevated hepatic transaminase, Abnormality of iron homeostasis, Splenomegaly, Fa... ORPHA:75563
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Mednik Syndrome
Decreased circulating ceruloplasmin concentration, Intrahepatic cholestasis, Decreased circulatin... ORPHA:171851
Copper Deficiency, Familial Benign
Abnormal circulating copper concentration, Decreased circulating copper concentration OMIM:121270
Hypokalemic Periodic Paralysis, Type 1
Muscle weakness, Hypokalemia, Episodic flaccid weakness OMIM:170400
Cog2-Cdg
Decreased circulating ceruloplasmin concentration, Hepatosplenomegaly, Decreased liver function, ... ORPHA:435934
Hemochromatosis Type 2
Increased circulating ferritin concentration, Muscle weakness, Lethargy, Elevated hepatic transam... ORPHA:79230
Aceruloplasminemia
Increased circulating ferritin concentration, Dystonia, Gait ataxia, Decreased circulating copper... ORPHA:48818
Irida Syndrome
Intrahepatic cholestasis, Decreased circulating copper concentration ORPHA:209981
Hypomagnesemia 6, Renal
Hypomagnesemia, Muscle weakness OMIM:613882
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Cirrhosis, Abnormality of iron homeostasis, Elevate... OMIM:613313
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cirrhosis, Hepatocellular necrosis, Abnormality of ... OMIM:231100
Mitochondrial Myopathy With Lactic Acidosis
Muscle weakness, Dystonia, Increased serum pyruvate, Toe walking, Proximal muscle weakness, Hyper... OMIM:251950
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Elevated circulating creatine kinase concentration, Fatigue, Gowers sign, Proximal muscle weakness OMIM:613157
Familial Benign Copper Deficiency
Decreased circulating copper concentration ORPHA:1551
Becker Muscular Dystrophy
Muscle weakness, Elevated hepatic transaminase, Difficulty walking, Toe walking, Falls, Elevated ... ORPHA:98895
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron, Cho... OMIM:603358
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Elevated circulating creatine kinase concentration, Fatigue, Proximal muscle weakness OMIM:253601
Wilson Disease
Cirrhosis, Dystonia, Hepatocellular carcinoma, Hepatomegaly, Atypical or prolonged hepatitis, Hep... OMIM:277900
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Congenital hepatic fibrosis, Increased serum iron, ... ORPHA:446
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Elevated hepatic transaminase, Hyperbilirubinemia, Portal ... OMIM:616278
Liddle Syndrome
Muscle weakness, Fatigue, Hypokalemia ORPHA:526
Hypermanganesemia With Dystonia 1
Cirrhosis, Increased total iron binding capacity, Dystonia, Elevated hepatic transaminase, Bradyk... OMIM:613280
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transaminase, Fatigue, ... OMIM:604250
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Muscle weakness, Cirrhosis, Arthralgia, Lethargy, A... ORPHA:465508
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Cirrhosis, Lethargy, Hepatomegaly, Splenomegaly, In... OMIM:602390
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, Limb dystonia, High nonceruloplasmin-bound serum copper ORPHA:457351
Beta-Thalassemia
Muscle weakness, Abnormality of iron homeostasis, Cholelithiasis, Hepatomegaly, Hepatitis, Spleno... ORPHA:848
Pediatric Hepatocellular Carcinoma
Abdominal pain, Elevated alpha-fetoprotein, Hepatic fibrosis, Hepatomegaly, Hepatic necrosis, Fat... ORPHA:33402
Gracile Syndrome
Increased circulating ferritin concentration, Cirrhosis, Decreased transferrin saturation, Hepati... ORPHA:53693
Aceruloplasminemia
Increased circulating ferritin concentration, Blepharospasm, Ataxia, Decreased serum iron, Tortic... OMIM:604290
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circulating renin l... OMIM:241150
African Iron Overload
Increased circulating ferritin concentration, Peritonitis, Micronodular cirrhosis, Viral hepatiti... ORPHA:139507
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia, Muscle weakness, Bone pain, Fatigue ORPHA:89937
Zinc Deficiency, Transient Neonatal
Decreased serum zinc OMIM:608118
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Prolonged neonatal jaundice, Splenomegaly, Elevated... ORPHA:766
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dysdiadochokinesis, Micronodular cirrhosis, Increased total iron binding capacity, Dystonia, Trun... ORPHA:309854
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Elevated hepatic transaminase, Decreased transferri... ORPHA:300298
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transaminase, Conjugate... OMIM:616860
Candidiasis, Familial, 2
Decreased serum iron OMIM:212050
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Elevated hepatic transaminase, Hyperbilirubinemia, Fatigue... ORPHA:98870
Hyperzincemia With Functional Zinc Depletion
Increased serum zinc, Hepatomegaly OMIM:601979
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Hepatic lobular inflammation, Elevated hepatic tran... ORPHA:101330
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Dystonia, Lethargy, Spastic ataxia, Hypomethioninemia, Methylmalonic acidemia, Decreased methylma... OMIM:277410
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transaminase, Abdominal... OMIM:235200
Beta-Thalassemia Intermedia
Cirrhosis, Abnormality of iron homeostasis, Hepatocellular carcinoma, Cholelithiasis, Hepatomegal... ORPHA:231222
Trichohepatoenteric Syndrome 2
Hepatomegaly, Decreased serum iron, Cirrhosis, Hepatitis OMIM:614602
Slc39A8-Cdg
Inability to walk, Hypomanganesemia, Dystonia, Abnormal blood zinc concentration, Poor head contr... ORPHA:468699
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Ataxia ORPHA:31
Wrinkly Skin Syndrome
Progressive cerebellar ataxia, High nonceruloplasmin-bound serum copper ORPHA:2834
Dominant Beta-Thalassemia
Cirrhosis, Arthralgia, Abnormality of iron homeostasis, Hepatocellular carcinoma, Hepatic fibrosi... ORPHA:231226
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Hepatic fibrosis, Decreased serum ... ORPHA:541423
Trichohepatoenteric Syndrome 1
Cirrhosis, Abnormality of iron homeostasis, Hypermethioninemia, Cholestasis, Hepatic fibrosis, Ja... OMIM:222470
Beta-Thalassemia Major
Cirrhosis, Arthralgia, Abnormality of iron homeostasis, Hepatocellular carcinoma, Hepatic fibrosi... ORPHA:231214
Mitochondrial Dna-Associated Leigh Syndrome
Low plasma citrulline, Muscle weakness, Dystonia, Gait ataxia, Abnormality of Krebs cycle metabol... ORPHA:255210
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Elevated p... ORPHA:470
Syndromic Diarrhea
Cirrhosis, Abnormality of iron homeostasis, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Abnorma... ORPHA:84064
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased plasma carnitine, Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Abnormal... ORPHA:89842
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased serum iron OMIM:616959
Leigh Syndrome With Cardiomyopathy
Muscle weakness, Dystonia, Ataxia, Decreased liver function, Ophthalmoplegia ORPHA:70474
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Chronic pain, Decreased serum zinc, Decreased plasma total carnitine, Abnormal circulating seleni... ORPHA:79408
Myopia 6
OMIM:608908
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
OMIM:604377

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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