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Gene: Ccs MGI:1333783

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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:
copper chaperone for superoxide dismutase
Synonyms:
CCS,  Ccsd

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 Ccs 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Congenital Disorder Of Glycosylation, Type Iiq
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... OMIM:617395
Cog2-Cdg
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Sm... ORPHA:435934
Mednik Syndrome
Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin... ORPHA:171851
Hjv Or Hamp-Related Hemochromatosis
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... ORPHA:79230
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... OMIM:613313
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Irida Syndrome
Intrahepatic cholestasis, Decreased circulating copper concentration ORPHA:209981
Idiopathic Copper-Associated Cirrhosis
Increased circulating copper concentration, Decreased circulating ceruloplasmin concentration ORPHA:209919
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... OMIM:242150
Hemochromatosis, Type 3
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Increased circulating ferritin conc... OMIM:604250
Aceruloplasminemia
Abnormal circulating enzyme concentration or activity, Decreased circulating ceruloplasmin concen... ORPHA:48818
Huppke-Brendel Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration OMIM:614482
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Hepatocellular necrosis, Increased serum iron, Abno... OMIM:231100
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... ORPHA:206484
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Azoospermia, Increas... OMIM:602390
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Abnormal circulating creatine kinase concentration, Abnormal circulating copper concentration ORPHA:521411
Familial Benign Copper Deficiency
Decreased circulating copper concentration ORPHA:1551
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal circulating cop... OMIM:620306
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... OMIM:611548
Copper Deficiency, Familial Benign
Decreased circulating copper concentration OMIM:121270
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
Wilson Disease
Hypoparathyroidism, Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hyp... OMIM:277900
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Abnormality of iron homeostasis ORPHA:75563
Burkitt Lymphoma
Increased circulating lactate dehydrogenase concentration, Abnormality of the ovary, Hyperuricemia ORPHA:543
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron, Prolonged neonatal jaundice ORPHA:446
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Gonadal calcification, Abnormalit... ORPHA:314478
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Elevated transferrin saturation OMIM:205950
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron OMIM:603358
Beta-Thalassemia
Cholelithiasis, Hypogonadotropic hypogonadism, Hepatitis, Abnormality of iron homeostasis ORPHA:848
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... ORPHA:254704
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Portal hypertension, Jaundice, Increased total iron binding capaci... OMIM:616278
Immunodeficiency 47
Elevated hepatic transaminase, Decreased circulating copper concentration, Elevated circulating a... OMIM:300972
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Increased circulating ferritin conc... OMIM:235200
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... OMIM:620121
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Elevated transferrin saturation, Azoospermia, Hypog... OMIM:615234
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
High nonceruloplasmin-bound serum copper ORPHA:457351
Symptomatic Form Of Hfe-Related Hemochromatosis
Hypogonadotropic hypogonadism, Portal hypertension, Increased circulating ferritin concentration,... ORPHA:465508
Satoyoshi Syndrome
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abnormality of the ... ORPHA:3130
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Increased circulating ferritin concentration, Azoospermia, Increas... ORPHA:300298
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Increased circulating ferritin concentration, Elevated tr... ORPHA:766
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Secondary amenorrhea, Abnormal spermatogenesis, Azoospermia, Ovari... OMIM:228300
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Primary amenorrhea ORPHA:247768
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Int... OMIM:617093
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Impotence, Elevated transferrin saturation OMIM:606069
Acute Transverse Myelitis
Decreased circulating copper concentration, Priapism, Abnormal libido ORPHA:139417
Beta-Thalassemia Intermedia
Hypoparathyroidism, Jaundice, Hypogonadism, Decreased liver function, Abnormality of iron homeost... ORPHA:231222
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Low alkaline phosphatase, Decreased serum zinc, Hypogonadism, Decreased testicular size OMIM:201100
Dietary Iron Overload Disease
Viral hepatitis, Increased circulating ferritin concentration, Elevated transferrin saturation, A... ORPHA:139507
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Bilateral cryptorchidism, Blind vagina, Ambiguous genitalia, male, Male hypogonadi... ORPHA:90793
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hypermanganesemia, Increased total iron binding capacity, Decrease... OMIM:613280
Occipital Horn Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration OMIM:304150
Hypoplasminogenemia
Cervicitis, Decreased level of plasminogen, Abnormality of the ovary, Abnormal fallopian tube mor... ORPHA:722
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased serum iron, Elevated hepatic iron concentration OMIM:206100
Wrinkly Skin Syndrome
Cryptorchidism, High nonceruloplasmin-bound serum copper ORPHA:2834
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased serum iron OMIM:212050
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Increased serum iron, Increased total iron binding capacity, Hyper... ORPHA:98870
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Abnormal circulating enzyme concentration or acti... ORPHA:101330
Zinc Deficiency, Transient Neonatal
Decreased serum zinc OMIM:608118
Gracile Syndrome
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... ORPHA:53693
Trichohepatoenteric Syndrome 1
Hypospadias, Jaundice, Increased serum iron, Hypoalbuminemia, Abnormality of iron homeostasis, Hy... OMIM:222470
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Decreased serum iron ORPHA:391372
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Abnormal blood inorganic cation concentration, Portal hypertension... ORPHA:309854
Aceruloplasminemia
Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron OMIM:604290
Dominant Beta-Thalassemia
Hypoparathyroidism, Jaundice, Chronic hepatitis, Abnormality of iron homeostasis, Hypopituitarism ORPHA:231226
Hyperzincemia With Functional Zinc Depletion
Increased serum zinc OMIM:601979
Trichohepatoenteric Syndrome 2
Decreased serum iron, Chronic hepatitis OMIM:614602
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Decreased serum zinc, Hepatic failure ORPHA:541423
Lysinuric Protein Intolerance
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hyperalaninemia, Hypertri... ORPHA:470
Beta-Thalassemia Major
Hypoparathyroidism, Hypopituitarism, Abnormality of iron homeostasis, Jaundice ORPHA:231214
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Hypogonadism, Vaginal atresia, Micropenis, Decreased testicular size OMIM:209900
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Decreased circulating carnitine conc... ORPHA:89842
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Abnormality of male external genitalia, Adrenal hyperplasia, Abnormal externa... ORPHA:95699
Syndromic Diarrhea
Patent ductus arteriosus, Hypoplasia of the thymus, Abnormality of iron homeostasis ORPHA:84064
Slc39A8-Cdg
Hypomanganesemia, Abnormal blood zinc concentration ORPHA:468699
Paroxysmal Nocturnal Hemoglobinuria
Decreased serum iron, Abnormal erythrocyte enzyme level, Jaundice, Impotence, Unconjugated hyperb... ORPHA:447
Turner Syndrome
Elevated hepatic transaminase, Premature ovarian insufficiency, Female infertility, Increased cir... ORPHA:881
Mosaic Monosomy X
Elevated hepatic transaminase, Premature ovarian insufficiency, Female infertility, Increased cir... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Premature ovarian insufficiency, Female infertility, Increased cir... ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Premature ovarian insufficiency, Female infertility, Increased cir... ORPHA:99413
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased serum iron OMIM:616959
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased serum iron, Precocious puberty, Cryptorchidism, Patent ductus arteriosus, Abnormality o... ORPHA:438213
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Decreased plasma total carnitine, Decreased serum zinc, Abnormal circulating selenium concentration ORPHA:79408

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 Ccs

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 Ccs.

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

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MGI Allele Allele Type Produced
Ccstm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ccstm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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