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Gene: Cybc1 MGI:2384959

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Gene Summary

Name:
cytochrome b 245 chaperone 1
Synonyms:
BC017643

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
decreased body weight Cybc1tm1a(KOMP)Wtsi HOM Early adult 5.20×10-07
decreased circulating triglyceride level Cybc1tm1a(KOMP)Wtsi HOM Early adult 3.27×10-05
increased circulating sodium level Cybc1tm1a(KOMP)Wtsi HOM Early adult 4.27×10-06
decreased circulating glucose level Cybc1tm1a(KOMP)Wtsi HOM Early adult 3.17×10-05
decreased bone mineral content Cybc1tm1a(KOMP)Wtsi HOM Early adult 3.86×10-05
decreased total body fat amount Cybc1tm1a(KOMP)Wtsi HOM Early adult 2.35×10-05
decreased lean body mass Cybc1tm1a(KOMP)Wtsi HOM Early adult 2.54×10-05
thrombocytosis Cybc1tm1a(KOMP)Wtsi HOM Early adult 3.41×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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 Cybc1 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 Cybc1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hepatosplenomegaly, Splenomegaly, Lymphopenia, Impaired oxidative burst, Hemolytic anemia OMIM:618935
Chronic Granulomatous Disease
Abnormality of neutrophils, Splenomegaly ORPHA:379

The table below shows human diseases predicted to be associated to Cybc1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 69
Anemia, Hemophagocytosis, Thrombocytosis, Pancytopenia, Leukocytosis, Failure to thrive, Hepatosp... OMIM:618963
Hyperchlorhidrosis, Isolated
Hyperkalemia, Failure to thrive, Hyponatremia OMIM:143860
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... OMIM:187950
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Elevated circulating C-reactive protein concentration, Pancytopenia, Elbow flexion contracture, H... OMIM:604416
Thrombocythemia 2
Thrombocytosis OMIM:601977
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Failure to thrive in infancy, Hypoglycemia, Hypercholestero... OMIM:232700
Thrombocythemia 3
Thrombocytosis OMIM:614521
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... ORPHA:75564
Glucose-Galactose Malabsorption
Failure to thrive, Hypercalcemia, Weight loss, Hypernatremia ORPHA:35710
Immunodeficiency 27A
Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Weight loss, Hypoalbuminemia, Thrombocyto... OMIM:209950
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Increased circulating corticosterone level, Increased circulating renin level, Fail... OMIM:610600
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... OMIM:616689
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Failure to thrive, Hyponatremia, Decreased circulating cortisol level, Hypoglycemia OMIM:614736
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Hypernatremia OMIM:304800
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Hypersegmentation of neutrophil nuclei, Meg... OMIM:617780
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperalaninemia, Hyperammonemia, Hypoornithinemia, Hypernatremia, Hyperprolinemia, Low plasma cit... OMIM:615751
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Anemia, Hyperuricemia, Pancytopenia, Increased blood urea nitrogen, Failure to thrive, Hyponatrem... OMIM:613845
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Increas... ORPHA:556037
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Le... ORPHA:94093
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,... OMIM:240900
Primary Myelofibrosis
Anemia, Thrombocytosis, Pancytopenia, Cachexia, Leukocytosis, Poikilocytosis, Hepatosplenomegaly,... ORPHA:824
Pyruvate Carboxylase Deficiency
Hypertaurinemia, Elevated plasma citrulline, Hyperglutamatemia, Increased serum pyruvate, Hyperal... ORPHA:3008
Celiac Disease, Susceptibility To, 1
Rickets, Steatorrhea, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Osteoporosis, Fail... OMIM:212750
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Increas... ORPHA:556030
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr... ORPHA:263458
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia ORPHA:529799
Essential Thrombocythemia
Acute leukemia, Thrombocytosis, Leukocytosis, Abnormal platelet morphology, Splenomegaly, Abnorma... ORPHA:3318
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperkalemia, Failure to thrive, Hyponatremia, Hyperaldosteronism OMIM:264350
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Increased circulating renin level, Failure to thrive, Hyponatremia, Hyperaldosteronism OMIM:177735
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypernatremia, Thrombocytopenia, Hyperglycemia, Hypoglycemia, Hyperglycinemia OMIM:620423
Congenital Isolated Acth Deficiency
Hyponatremia, Neonatal hypoglycemia, Decreased circulating cortisol level, Hypoglycemic seizures ORPHA:199296
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Anemia, Hemophagocytosis, Increase... OMIM:267700
Central Diabetes Insipidus
Failure to thrive, Hyponatremia, Weight loss ORPHA:178029
Nephrogenic Diabetes Insipidus
Failure to thrive, Hypernatremia ORPHA:223
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Failure to thrive, Hypoalbuminemia, Hypernatremia OMIM:615508
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia, Hypoglycemia OMIM:240200
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Weight loss, Insuli... ORPHA:411593
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level OMIM:203400
Beta-Ketothiolase Deficiency
Hyperuricemia, Leukocytosis, Hyperammonemia, Hyperglycemia, Weight loss, Hypoglycemia, Thrombocyt... ORPHA:134
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperkalemia, Hyponatremia, Increased circulating renin level, Hyperaldosteronism OMIM:620126
Poems Syndrome
Thrombocytosis, Sclerosis of hand bone, Sclerosis of foot bone, Polycythemia, Lipodystrophy, Weig... ORPHA:2905
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Webb-Dattani Syndrome
Hypernatremia, Obesity OMIM:615926
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperkalemia, Hyponatremia, Increased circulating renin level, Hyperaldosteronism OMIM:620125
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Splenic infa... ORPHA:232
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating renin ... ORPHA:171876
Heme Oxygenase 1 Deficiency
Thrombocytosis, Elevated circulating C-reactive protein concentration, Asplenia, Coombs-positive ... OMIM:614034
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Generalized bone demineralization, Macrocytic anemia, Hyperuricemia, Hypoglyce... ORPHA:199299
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Hypoproteinemia, Increased total bi... OMIM:603553
Mirage Syndrome
Hyperkalemia, Radial club hand, Anemia, Decreased body weight, Hyponatremia, Hypoplastic spleen, ... OMIM:617053
Alg8-Cdg
Anemia, Camptodactyly, Failure to thrive, Hyponatremia, Thrombocytopenia, Small for gestational a... ORPHA:79325
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:610021
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia OMIM:620152
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Elevated circulating C-reactive protein concentration, Failure to thrive, Leukopenia, Lym... OMIM:615934
Necrotizing Enterocolitis
Abnormal glucose homeostasis, Leukocytosis, Hyponatremia, Hyperglycemia, Thrombocytopenia, Small ... ORPHA:391673
3-Hydroxy-3-Methylglutaric Aciduria
Anemia, Hyperuricemia, Leukocytosis, Nonketotic hypoglycemia, Hyperammonemia, Leukopenia, Recurre... ORPHA:20
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Abnormal subcutaneous fat tissue distribution, Steatorrhea, Failure to thrive, Flexio... OMIM:212065
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hypochloremia, Increased circulating renin level, Failure to thrive, Hyponatremia, H... OMIM:214700
Familial Glucocorticoid Deficiency
Hyperkalemia, Hypoglycemic seizures, Ketotic hypoglycemia, Failure to thrive, Hyponatremia, Decre... ORPHA:361
Immunodeficiency 82 With Systemic Inflammation
Anemia, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Decreased propo... OMIM:619381
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Thrombocytopenia, Leukocytosis ORPHA:83601
Polycythemia Vera
Acute leukemia, Myelofibrosis, Leukocytosis, Polycythemia, Splenomegaly, Weight loss, Thrombocytosis ORPHA:729
Wolcott-Rallison Syndrome
Neutropenia, Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Decreased body weight, Hy... ORPHA:1667
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Anemia, Iron deficiency anemia, Hypoproteinemia, Hypoalbuminemia, Thrombocytosis OMIM:226300
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Failure to thrive in infancy, Hypoglycemia, Hyperammo... ORPHA:6
Renal Hypoplasia, Bilateral
Hyperkalemia, Anemia, Failure to thrive, Hyponatremia, Glycosuria, Small for gestational age ORPHA:97362
Immunodeficiency 92
Decreased proportion of class-switched memory B cells, Lymphocytosis, B lymphocytopenia, Leukocyt... OMIM:619652
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hypocalcemia, Leukocytosis, Hyponatremia, ... ORPHA:247353
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Leukocyt... OMIM:243150
Adrenal Hypoplasia, Congenital
Failure to thrive, Hyponatremia, Decreased circulating cortisol level OMIM:300200
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Failure to thrive, Hyponatremia, Decreased circulating cortisol level, Hypoglycemia ORPHA:90790
Trichohepatoenteric Syndrome 1
Abnormality of iron homeostasis, Hypermethioninemia, Hypergalactosemia, Failure to thrive, Increa... OMIM:222470
Addison Disease
Hyperkalemia, Normocytic anemia, Generalized bone demineralization, Hyperuricemia, Hypoglycemia, ... ORPHA:85138
Acute Adrenal Insufficiency
Hyperkalemia, Normocytic anemia, Hyperuricemia, Increased circulating renin level, Failure to thr... ORPHA:95409
Familial Thrombocytosis
Acute myeloid leukemia, Splenomegaly, Weight loss, Chronic myelogenous leukemia, Thrombocytosis ORPHA:71493
Aica-Ribosiduria Due To Atic Deficiency
Hyponatremia, Hypoglycemia OMIM:608688
Porphyria Due To Ala Dehydratase Deficiency
Ankle flexion contracture, Increased erythrocyte protoporphyrin concentration, Abnormal erythrocy... ORPHA:100924
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Failure to thrive, Hyponatremia, Hyperaldosteronism OMIM:613090
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemic seizures, Hyperinsulinemia, Hyperammonemia, Increased C-peptide level, Hypoglycemia,... OMIM:620211
Intellectual Developmental Disorder, Autosomal Dominant 70
Failure to thrive, Hyponatremia OMIM:620157
Hyperkalemic Periodic Paralysis
Hyperkalemia, Hypokalemia, Elevated circulating creatine kinase concentration, Hyponatremia, Flex... ORPHA:682
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal lymphocyte morphology, Failure to thrive, Hyponatremia, Decreased circulating cortisol l... ORPHA:293978
Alg12-Cdg
Abnormal bone ossification, Abnormal adipose tissue morphology, B lymphocytopenia, Camptodactyly,... ORPHA:79324
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating suberic acid concentration, Increased serum pyruvate, Hyperalaninemia, Hyper... OMIM:615160
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Neonatal hypoglycemia, Increased circulating renin level, Failure to thrive, Hypona... ORPHA:90791
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Thrombocytosis, Elevated circulating C-reactive protein concentration, Iron deficiency anemia, Ly... OMIM:301074
Snakebite Envenomation
Hyponatremia, Thrombocytopenia ORPHA:449285
Interstitial Lung And Liver Disease
Failure to thrive, Thrombocytosis, Anemia, Hyperammonemia OMIM:615486
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... OMIM:300539
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Panniculitis, Anemia, Elevated circulating C-reactive protein concentration, Pancytopenia, Leukoc... OMIM:615688
Herpes Simplex Virus Encephalitis
Hyponatremia, Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:1930
Shigellosis
Splenic abscess, Leukocytosis, Hyponatremia, Thrombocytopenia, Microangiopathic hemolytic anemia,... ORPHA:810
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Hereditary Coproporphyria
Atypical scarring of skin, Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Anemia, Cachexia, Vacuolated lympho... ORPHA:275761
Whipple Disease
Anemia, Cachexia, Hyponatremia, Splenomegaly, Insulin resistance ORPHA:3452
Syndromic Diarrhea
Abnormality of iron homeostasis, Inguinal hernia, Hypoplasia of the thymus, Increased mean platel... ORPHA:84064
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Splenomegaly, Hypoglycemia, Hypercholesterolemia OMIM:306000
Familial Hypoaldosteronism
Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level ORPHA:427
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Bartter Syndrome, Type 5, Antenatal, Transient
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:300971
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Postprandial hyperglycemia, Fasting hypoglycemia, Hyperglycemia, Diabetic ketoa... OMIM:262190
Autoerythrocyte Sensitization Syndrome
Autoimmune thrombocytopenia, Thrombocytosis, Abnormal erythrocyte morphology, Impaired platelet a... ORPHA:324636
Colchicine Poisoning
Hypokalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal... ORPHA:31824
Idiopathic Hypereosinophilic Syndrome
Anemia, Myelofibrosis, Myeloproliferative disorder, Leukocytosis, Failure to thrive, Neutrophilia... ORPHA:3260
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyperkalemia, Neonatal hypoglycemia, Reduced bone mineral density, Abnormal circulating cholester... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyperkalemia, Neonatal hypoglycemia, Reduced bone mineral density, Abnormal circulating cholester... ORPHA:289548
Hartsfield Syndrome
Craniosynostosis, Hypernatremia OMIM:615465
Cholera
Hypokalemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypoglycemia ORPHA:173
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemia, Hyponatremia, Thromb... ORPHA:90038
Mody
Large for gestational age, Neonatal hypoglycemia, Glucose intolerance, Abnormal circulating C-pep... ORPHA:552
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancyto... ORPHA:167
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Juvenile Nephropathic Cystinosis
Hypokalemia, Hypocalcemia, Hypouricemia, Failure to thrive, Hyponatremia, Glycosuria, Hypophospha... ORPHA:411634
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Failure to thrive, Thrombocytosis, Leukocytosis, Hypochromic anemia OMIM:618213
Sheehan Syndrome
Normochromic anemia, Hyponatremia, Obesity, Decreased circulating cortisol level, Hypoglycemia ORPHA:91355
Porphyria Variegata
Hyponatremia, Abnormal circulating porphyrin concentration, Anemia, Scarring ORPHA:79473
Bartter Syndrome Type 4
Severe failure to thrive, Hypokalemia, Hypochloremia, Increased circulating renin level, Failure ... ORPHA:89938
Rabin-Pappas Syndrome
Failure to thrive in infancy, Obesity, Hyponatremia OMIM:620155
Legionnaires Disease
Hyponatremia, Cellulitis, Splenomegaly, Lymphopenia ORPHA:549
Pituitary Apoplexy
Hyponatremia, Hypoglycemia, Normochromic anemia, Increased circulating cortisol level ORPHA:95613
Brucellosis
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Failure to thrive, L... ORPHA:1304
Cystinosis, Nephropathic
Rickets, Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nitrogen, Decreased circulatin... OMIM:219800
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Mitochondrial Complex I Deficiency, Nuclear Type 32
Failure to thrive, Hyponatremia, Small for gestational age OMIM:618252
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets, Large for gestational age, Hypouricemia, Glycosuria, Hypophosphatemia, Hypoglycemia, Dia... OMIM:616026
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Decreased circulating cortisol level, Anemia, Elevated circulating creatine kinase ... OMIM:618838
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Failure to thrive, Hyponatremia, Hyperaldosteronism OMIM:602522
Adenohypophysitis
Hyponatremia, Decreased circulating cortisol level, Normochromic anemia ORPHA:95512
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Osteopenia, Calcinosis, Hypokalemia, Hypocalcemia, Hyponatremia, Splenomegaly OMIM:617913
Panhypophysitis
Hyponatremia, Decreased circulating cortisol level, Normochromic anemia ORPHA:95513
Cogan Syndrome
Thrombocytosis, Anemia, Leukocytosis ORPHA:1467
Methylmalonic Aciduria, Cblb Type
Elevated circulating methylmalonylcarnitine concentration, Methylmalonic acidemia, Anemia, Pancyt... OMIM:251110
Oculocerebrorenal Syndrome Of Lowe
Anemia, Hypokalemia, Inguinal hernia, Abnormal dental enamel morphology, Failure to thrive, Hypon... ORPHA:534
Holoprosencephaly
Congenital diaphragmatic hernia, Omphalocele, Hyponatremia, Abnormality of the spleen, Failure to... ORPHA:2162
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Thrombocytopenia, Diabetes mellitus, Hemo... ORPHA:544482
Infant Botulism
Hyponatremia ORPHA:178478
Familial Dysautonomia
Hyponatremia, Osteolysis ORPHA:1764
Japanese Encephalitis
Hyponatremia, Elbow flexion contracture, Neutrophilia ORPHA:79139
Liver Disease, Severe Congenital
Anemia, Inguinal hernia, Hypocalcemia, Hyperbilirubinemia, Lymphocytosis, Hypoproteinemia, Hypera... OMIM:619991
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Failure to thrive, Hyponatremia, Hypokalemia OMIM:618426
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Neonatal hypoglycemia, Hypochloremia, Failure to thrive, Hyponatremia, Decreased ci... ORPHA:90794
Kawasaki Disease
Hypoalbuminemia, Thrombocytosis, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:2331
Combined Oxidative Phosphorylation Deficiency 3
Hyperammonemia, Hyponatremia, Elevated circulating creatine kinase concentration OMIM:610505
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Impaired platelet aggregation, Leukocytosis, Abnormality of neutrophil ph... ORPHA:2968
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Obesity, Hyperlipidemia, Hyperglycemia ORPHA:293987
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyperkalemia, Elevated serum 11-deoxycortisol, Decreased circulating renin level, Camptodactyly, ... OMIM:201750
Acute Intermittent Porphyria
Hyponatremia ORPHA:79276
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyperkalemia, Hyponatremia OMIM:201810
Doors Syndrome
Thrombocytosis, Sagittal craniosynostosis ORPHA:79500
Autosomal Recessive Polycystic Kidney Disease
Increased serum bile acid concentration, Hyponatremia, Thrombocytopenia, Splenomegaly, Hepatosple... ORPHA:731
Primary Fanconi Renotubular Syndrome
Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat... ORPHA:3337
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hepatosplenomegaly, Splenomegaly, Lymphopenia, Impaired oxidative burst, Hemolytic anemia OMIM:618935
Chronic Granulomatous Disease
Abnormality of neutrophils, Splenomegaly ORPHA:379

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 Cybc1

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 Cybc1.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
EROS is a selective chaperone regulating the phagocyte NADPH oxidase and purinergic signalling. eLife (November 2022) Cybc1tm1a(KOMP)Wtsi PMC9767466
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Cybc1tm1a(KOMP)Wtsi PMC7263671
Functional Expression of the P2X7 ATP Receptor Requires Eros. Journal of immunology (Baltimore, Md. : 1950) (December 2019) Cybc1tm1a(KOMP)Wtsi 31862710
Eros is a novel transmembrane protein that controls the phagocyte respiratory burst and is essential for innate immunity. The Journal of experimental medicine (March 2017) Cybc1tm1a(KOMP)Wtsi PMC5379978
Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen. Nature communications (April 2014) Cybc1tm1a(KOMP)Wtsi PMC3996542

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Cybc1tm43764(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cybc1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Cybc1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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