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.
An assay measuring the expression of lacZ shows the tissue where the gene is expressed.
| Anatomy | Images | Zygosity | Mutant Expr |
|---|---|---|---|
| Adrenal gland | Section images | heterozygote | 100% (2 of 2) |
| Aorta | Section images | heterozygote | 100% (2 of 2) |
| Brain | Section images | heterozygote | 100% (2 of 2) |
| Brainstem | Section images | heterozygote | 100% (2 of 2) |
| Cartilage tissue | Section images | heterozygote | 100% (2 of 2) |
| Cerebellum | Section images | heterozygote | 100% (2 of 2) |
| Cerebral cortex | Section images | heterozygote | 100% (2 of 2) |
| Epididymis | Section images | heterozygote | 50% (1 of 2) |
| Eye | Section images | heterozygote | 100% (2 of 2) |
| Heart | Section images | heterozygote | 100% (2 of 2) |
| Hippocampus | Section images | heterozygote | 100% (2 of 2) |
| Hypothalamus | Section images | heterozygote | 100% (2 of 2) |
| Kidney | Section images | heterozygote | 100% (2 of 2) |
| Large intestine | Section images | heterozygote | 100% (2 of 2) |
| Lung | Section images | heterozygote | 100% (2 of 2) |
| Midbrain | Section images | heterozygote | 100% (2 of 2) |
| Olfactory lobe | Section images | heterozygote | 100% (2 of 2) |
| Ovary | Section images | heterozygote | 50% (1 of 2) |
| Oviduct | Section images | heterozygote | 50% (1 of 2) |
| Pancreas | Section images | heterozygote | 100% (2 of 2) |
| Pituitary gland | Section images | heterozygote | 100% (2 of 2) |
| Skin | Section images | heterozygote | 100% (2 of 2) |
| Small intestine | Section images | heterozygote | 100% (2 of 2) |
| Spinal cord | Section images | heterozygote | 100% (2 of 2) |
| Stomach | Section images | heterozygote | 100% (2 of 2) |
| Submandibular gland | Section images | heterozygote | 50% (1 of 2) |
| Testis | Section images | heterozygote | 50% (1 of 2) |
| Thalamus | Section images | heterozygote | 100% (2 of 2) |
| Thymus | Section images | heterozygote | 50% (1 of 2) |
| Thyroid gland | Section images | heterozygote | Ambiguous |
| Trachea | Section images | heterozygote | 100% (2 of 2) |
| Uterus | Section images | heterozygote | 50% (1 of 2) |
| Brown adipose tissue | N/A | heterozygote | 0.0% (0 of 2) |
| Esophagus | N/A | heterozygote | 0.0% (0 of 2) |
| Liver | N/A | heterozygote | 0.0% (0 of 2) |
| Lower urinary tract | N/A | heterozygote | Not available |
| Lymph node | N/A | heterozygote | 0.0% (0 of 2) |
| Mammary 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) |
| Prostate gland | N/A | heterozygote | Not available |
| Skeletal muscle | N/A | heterozygote | 0.0% (0 of 2) |
| Spleen | N/A | heterozygote | 0.0% (0 of 2) |
| Striatum | N/A | heterozygote | 0.0% (0 of 2) |
| Urinary bladder | N/A | heterozygote | 0.0% (0 of 2) |
| Vascular system | N/A | heterozygote | 0.0% (0 of 2) |
| Vesicular gland | N/A | heterozygote | Not available |
| White adipose tissue | N/A | heterozygote | 0.0% (0 of 2) |
An assay measuring the expression of lacZ shows the tissue where the gene is expressed.
| Anatomy | Images | Zygosity | Mutant Expr |
|---|---|---|---|
| Embryo | N/A | heterozygote | 100% (2 of 2) |
| Embryo | N/A | homozygote | Ambiguous |
| Brain | N/A | heterozygote | 50% (1 of 2) |
| Brain | N/A | homozygote | Ambiguous |
| Dorsal root ganglion | N/A | heterozygote | 0.0% (0 of 2) |
| Dorsal root ganglion | N/A | homozygote | Ambiguous |
| Ear | N/A | heterozygote | 0.0% (0 of 2) |
| Ear | N/A | homozygote | Ambiguous |
| Eye | N/A | heterozygote | 0.0% (0 of 2) |
| Eye | N/A | homozygote | Ambiguous |
| Footplate | N/A | heterozygote | 0.0% (0 of 2) |
| Footplate | N/A | homozygote | Ambiguous |
| Forebrain | N/A | heterozygote | 0.0% (0 of 2) |
| Forebrain | N/A | homozygote | Ambiguous |
| Forelimb | N/A | heterozygote | 0.0% (0 of 2) |
| Forelimb | N/A | homozygote | Ambiguous |
| Fronto-nasal process | N/A | heterozygote | Ambiguous |
| Fronto-nasal process | N/A | homozygote | Ambiguous |
| Handplate | N/A | heterozygote | 0.0% (0 of 2) |
| Handplate | N/A | homozygote | Ambiguous |
| Head | N/A | heterozygote | 100% (2 of 2) |
| Head | N/A | homozygote | Ambiguous |
| Heart | N/A | heterozygote | 0.0% (0 of 2) |
| Heart | N/A | homozygote | Ambiguous |
| Hindbrain | N/A | heterozygote | 50% (1 of 2) |
| Hindbrain | N/A | homozygote | Ambiguous |
| Hindlimb | N/A | heterozygote | 0.0% (0 of 2) |
| Hindlimb | N/A | homozygote | Ambiguous |
| Liver | N/A | heterozygote | 0.0% (0 of 2) |
| Liver | N/A | homozygote | Ambiguous |
| Lung | N/A | heterozygote | Ambiguous |
| Lung | N/A | homozygote | Ambiguous |
| Mandibular process | N/A | heterozygote | 0.0% (0 of 2) |
| Mandibular process | N/A | homozygote | Ambiguous |
| Maxillary process | N/A | heterozygote | 0.0% (0 of 2) |
| Maxillary process | N/A | homozygote | Ambiguous |
| Midbrain | N/A | heterozygote | 0.0% (0 of 2) |
| Midbrain | N/A | homozygote | Ambiguous |
| Nose | N/A | heterozygote | 100% (2 of 2) |
| Nose | N/A | homozygote | Ambiguous |
| Oral cavity | N/A | heterozygote | 0.0% (0 of 2) |
| Oral cavity | N/A | homozygote | Ambiguous |
| Skin | N/A | heterozygote | 0.0% (0 of 2) |
| Skin | N/A | homozygote | Ambiguous |
| Spinal cord | N/A | heterozygote | 50% (1 of 2) |
| Spinal cord | N/A | homozygote | Ambiguous |
| Tail somite | N/A | heterozygote | 0.0% (0 of 2) |
| Tail somite | N/A | homozygote | Ambiguous |
| Tail | N/A | heterozygote | 0.0% (0 of 2) |
| Tail | N/A | homozygote | Ambiguous |
Background staining occurs in wild type mice and embryos at an incidental rate.
| Anatomy | Background staining in controls (WT) |
|---|---|
| adrenal gland | 0.67% (4 of 598) |
| aorta | 0.17% (1 of 598) |
| brain | 0.84% (5 of 598) |
| brainstem | 0.33% (2 of 598) |
| brown adipose tissue | 0.0% |
| cartilage tissue | 0.17% (1 of 598) |
| cerebellum | 0.5% (3 of 598) |
| cerebral cortex | 0.33% (2 of 598) |
| epididymis | 14.29% (21 of 147) |
| esophagus | 1.66% (7 of 422) |
| eye | 0.0% |
| heart | 0.33% (2 of 598) |
| hippocampus | 0.5% (3 of 598) |
| hypothalamus | 0.33% (2 of 598) |
| kidney | 4.52% (27 of 598) |
| large intestine | 5.35% (32 of 598) |
| liver | 0.0% |
| lower urinary tract | 0.17% (1 of 598) |
| lung | 0.33% (2 of 598) |
| lymph node | 0.17% (1 of 598) |
| mammary gland | 0.0% |
| midbrain | 0.0% |
| olfactory lobe | 0.33% (2 of 598) |
| ovary | 0.17% (1 of 598) |
| oviduct | 0.0% |
| pancreas | 0.84% (5 of 598) |
| peripheral nervous system | 0.33% (2 of 598) |
| peyers patch | 0.0% |
| pituitary gland | 0.17% (1 of 598) |
| prostate gland | 2.17% (13 of 598) |
| skeletal muscle | 0.0% |
| skin | 0.17% (1 of 598) |
| small intestine | 5.35% (32 of 598) |
| spinal cord | 0.5% (3 of 598) |
| spleen | 0.5% (3 of 598) |
| stomach | 3.68% (22 of 598) |
| striatum | 0.5% (3 of 598) |
| submandibular gland | 1.38% (2 of 145) |
| testis | 1% (6 of 598) |
| thalamus | 0.0% |
| thymus | 0.17% (1 of 598) |
| thyroid gland | 3.01% (18 of 598) |
| trachea | 0.5% (3 of 598) |
| urinary bladder | 0.0% |
| uterus | 0.33% (2 of 598) |
| vascular system | 0.0% |
| vesicular gland | 0.0% |
| white adipose tissue | 0.0% |
Background staining occurs in wild type mice and embryos at an incidental rate.
Background staining occurs in wild type embryos at a measurable rate.
| Anatomy | Background staining in controls(WT) |
|---|---|
| brain | 1.17% (6 of 511) |
| dorsal root ganglion | 1.67% (1 of 60) |
| ear | 0.2% (1 of 511) |
| embryo | 0.39% (2 of 512) |
| eye | 0.2% (1 of 511) |
| footplate | 0.2% (1 of 511) |
| forebrain | 0.2% (1 of 511) |
| forelimb | 0.2% (1 of 511) |
| fronto-nasal process | 1.64% (1 of 61) |
| handplate | 0.2% (1 of 511) |
| head | 0.98% (5 of 511) |
| heart | 0.2% (1 of 511) |
| hindbrain | 1.17% (6 of 511) |
| hindlimb | 0.2% (1 of 511) |
| liver | 0.2% (1 of 506) |
| lung | 0.2% (1 of 506) |
| mandibular process | 0.2% (1 of 511) |
| maxillary process | 0.2% (1 of 511) |
| midbrain | 0.2% (1 of 511) |
| nose | 1.28% (1 of 78) |
| oral cavity | 0.2% (1 of 506) |
| skin | 0.2% (1 of 511) |
| spinal cord | 1.39% (1 of 72) |
| tail | 0.2% (1 of 511) |
| tail somite group | 0.2% (1 of 511) |
Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.
XRay Images Forepaw
10 Images
XRay Images Whole Body Dorso Ventral
10 Images
Wake state (bmp file)
9 Images
LacZ Images Section
32 Images
XRay Images Skull Lateral Orientation
10 Images
Images Slit Lamp
2 Images
XRay Images Skull Dorso Ventral Orientation
10 Images
XRay Images Whole Body Lateral Orientation
10 Images
LacZ images wholemount
12 Images
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 Grcc10 by orthology or direct annotation.
| Disease | Similarity of phenotypes |
Matching phenotypes | Source |
|---|---|---|---|
| Temtamy Syndrome | ORPHA:1777 | ||
| Temtamy Syndrome | OMIM:218340 |
The table below shows human diseases predicted to be associated to Grcc10 by phenotypic similarity.
| Disease | Similarity of phenotypes |
Matching phenotypes | Source |
|---|---|---|---|
| Venular Insufficiency, Systemic | Cyanosis | OMIM:192700 | |
| Sulfhemoglobinemia, Congenital | Cyanosis | OMIM:185460 | |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome | Acrocyanosis | ORPHA:86918 | |
| Methemoglobinemia, Beta Type | Cyanosis | OMIM:617971 | |
| Methemoglobinemia, Alpha Type | Cyanosis | OMIM:617973 | |
| Cryofibrinogenemia, Familial Primary | Acrocyanosis | OMIM:123540 | |
| Breath-Holding Spells | Cyanosis | OMIM:607578 | |
| Seizures, Benign Familial Infantile, 3 | Cyanosis | OMIM:607745 | |
| Cyanosis, Transient Neonatal | Cyanosis, Jaundice | OMIM:613977 | |
| Cleft Larynx, Posterior | Cyanosis | OMIM:215800 | |
| Seizures, Benign Familial Infantile, 1 | Cyanosis | OMIM:601764 | |
| Apnea, Central Sleep | Cyanosis | OMIM:207720 | |
| Bullous Dystrophy, Hereditary Macular Type | Acrocyanosis | OMIM:302000 | |
| Obesity-Hypoventilation Syndrome | Cyanosis | OMIM:257500 | |
| Perching Syndrome | Cyanosis | OMIM:617055 | |
| Phosphoserine Aminotransferase Deficiency | Cyanotic episode | OMIM:610992 | |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome | Acrocyanosis | ORPHA:2400 | |
| Laryngeal Abductor Paralysis | Cyanosis | OMIM:150260 | |
| Neuralgic Amyotrophy | Acrocyanosis | ORPHA:2901 | |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome | Cyanosis | ORPHA:91130 | |
| Buerger Disease | Acrocyanosis | ORPHA:36258 | |
| Tricuspid Atresia | Cyanosis | ORPHA:1209 | |
| Classic Glucose Transporter Type 1 Deficiency Syndrome | Cyanosis | ORPHA:71277 | |
| Mitochondrial Phosphate Carrier Deficiency | Cyanosis | OMIM:610773 | |
| Interstitial Pneumonitis, Desquamative, Familial | Cyanosis | OMIM:263000 | |
| Benign Familial Infantile Epilepsy | Cyanosis | ORPHA:306 | |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase | Cyanosis | OMIM:250800 | |
| Laryngotracheal Angioma | Cyanosis | ORPHA:137935 | |
| Hypoadrenocorticism, Familial | Cyanosis | OMIM:240200 | |
| Hereditary Methemoglobinemia | Cyanosis | ORPHA:621 | |
| Chronic Pneumonitis Of Infancy | Cyanosis, Hypoxemia | ORPHA:91359 | |
| Congenital Pulmonary Lymphangiectasia | Cyanosis | ORPHA:2414 | |
| Infant Acute Respiratory Distress Syndrome | Cyanosis, Hypoxemia | ORPHA:70587 | |
| Benign Familial Neonatal Epilepsy | Circumoral cyanosis | ORPHA:1949 | |
| Methemoglobinemia And Ambiguous Genitalia | Cyanosis | OMIM:250790 | |
| Acquired Methemoglobinemia | Cyanosis, Hypoxemia | ORPHA:464453 | |
| Laryngotracheoesophageal Cleft | Cyanosis | ORPHA:2004 | |
| Congenital Fibrinogen Deficiency | Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage | ORPHA:335 | |
| Ethylmalonic Encephalopathy | Acrocyanosis, Petechiae | ORPHA:51188 | |
| Cryptogenic Organizing Pneumonia | Cyanosis, Hypoxemia | ORPHA:1302 | |
| Restrictive Dermopathy 2 | Cyanosis | OMIM:619793 | |
| Postsynaptic Congenital Myasthenic Syndromes | Cyanosis | ORPHA:98913 | |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form | Cyanotic episode | ORPHA:284417 | |
| Pulmonary Alveolar Proteinosis, Acquired | Cyanosis, Hypoxemia | OMIM:610910 | |
| Encephalopathy, Ethylmalonic | Acrocyanosis, Petechiae | OMIM:602473 | |
| Asbestos Intoxication | Cyanosis, Hypoxemia, Oxygen desaturation on exertion | ORPHA:2302 | |
| Chiari Malformation Type Ii | Cyanosis | OMIM:207950 | |
| Hsd10 Disease, Infantile Type | Cyanosis | ORPHA:391428 | |
| Primary Pulmonary Hypoplasia | Cyanosis, Hypoxemia | ORPHA:2257 | |
| Combined Oxidative Phosphorylation Defect Type 23 | Cyanosis | ORPHA:444013 | |
| Hyperimmunoglobulinemia D With Periodic Fever | Acrocyanosis, Purpura, Erythema, Urticaria | ORPHA:343 | |
| Dravet Syndrome | Cyanotic episode | ORPHA:33069 | |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic | Cyanosis | OMIM:261680 | |
| Isolated Right Ventricular Hypoplasia | Cyanosis, Hypoxemia | ORPHA:439 | |
| Eosinophilic Fasciitis | Acrocyanosis | ORPHA:3165 | |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome | Acrocyanosis | OMIM:614407 | |
| Criss-Cross Heart | Cyanosis | ORPHA:1461 | |
| Acute Interstitial Pneumonia | Cyanosis, Hypoxemia | ORPHA:79126 | |
| Acquired Purpura Fulminans | Macular purpura, Acrocyanosis | ORPHA:49566 | |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome | Cyanosis | ORPHA:3304 | |
| Congenitally Uncorrected Transposition Of The Great Arteries | Cyanosis, Hypoxemia | ORPHA:860 | |
| Autoimmune Pulmonary Alveolar Proteinosis | Cyanosis, Hypoxemia | ORPHA:747 | |
| Choanal Atresia | Cyanosis | ORPHA:137914 | |
| Atrioventricular septal defect 3 | Cyanosis | OMIM:600309 | |
| Waardenburg Syndrome Type 3 | Acrocyanosis | ORPHA:896 | |
| Hereditary Bullous Dystrophy, Macular Type | Acrocyanosis | ORPHA:1867 | |
| Tetrasomy 5P | Cyanosis | ORPHA:3309 | |
| Aicardi-Goutieres Syndrome 1 | Petechiae, Acrocyanosis, Purpura, Erythema, Prolonged neonatal jaundice | OMIM:225750 | |
| Sepsis In Premature Infants | Cyanosis, Jaundice, Purpura, Petechiae | ORPHA:90051 | |
| Pulmonary Arteriovenous Malformation | Cyanosis, Telangiectasia, Hypoxemia | ORPHA:2038 | |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures | Cyanosis | OMIM:619580 | |
| Rare Circulatory System Disease | Cyanosis | ORPHA:98028 | |
| Double Outlet Right Ventricle | Cyanosis | ORPHA:3426 | |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome | Cyanosis | ORPHA:488627 | |
| Carnitine-Acylcarnitine Translocase Deficiency | Cyanosis | ORPHA:159 | |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 | Cyanosis | OMIM:265120 | |
| Congenital Tricuspid Valve Dysplasia | Cyanosis, Hypoxemia | ORPHA:555874 | |
| Congenital Myasthenic Syndrome | Cyanosis | ORPHA:590 | |
| Presynaptic Congenital Myasthenic Syndromes | Cyanosis | ORPHA:98914 | |
| Pulmonary Capillary Hemangiomatosis | Cyanosis, Hypoxemia | ORPHA:199241 | |
| Kallmann Syndrome-Heart Disease Syndrome | Cyanosis | ORPHA:2326 | |
| Fucosidosis | Vascular skin abnormality, Acrocyanosis | ORPHA:349 | |
| Cardiac Valvular Dysplasia 2 | Central cyanosis | OMIM:620067 | |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 | Cyanosis, Hypoxemia | OMIM:610913 | |
| Arnold-Chiari Malformation Type Ii | Cyanosis | ORPHA:1136 | |
| Eosinophilic Granulomatosis With Polyangiitis | Acrocyanosis, Purpura, Cutis marmorata, Urticaria | ORPHA:183 | |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 | Cyanosis, Hypoxemia | OMIM:610921 | |
| Meckel Syndrome 14 | Cyanosis | OMIM:619879 | |
| Structural Heart Defects And Renal Anomalies Syndrome | Cyanosis | OMIM:617478 | |
| Complete Atrioventricular Septal Defect | Cyanosis | ORPHA:1329 | |
| Ethylene Glycol Poisoning | Cyanosis | ORPHA:31826 | |
| Heterotaxy, Visceral, 7, Autosomal | Cyanosis | OMIM:616749 | |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 | Cyanosis, Palate telangiectasia, Nasal mucosa telangiectasia, Conjunctival telangiectasia, Tongue... | OMIM:610655 | |
| Tarp Syndrome | Cyanosis | ORPHA:2886 | |
| Myasthenia Gravis | Acrocyanosis | ORPHA:589 | |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 | Cyanosis, Palate telangiectasia, Gastrointestinal telangiectasia, Facial telangiectasia, Nail bed... | OMIM:600376 | |
| Pulmonary Alveolar Microlithiasis | Cyanosis, Hypoxemia, Oxygen desaturation on exertion | ORPHA:60025 | |
| Atrial Septal Defect, Ostium Primum Type | Cyanosis | ORPHA:99106 | |
| Atrial Septal Defect, Coronary Sinus Type | Cyanosis | ORPHA:99104 | |
| Glycogen Storage Disease Of Heart, Lethal Congenital | Cyanosis | OMIM:261740 | |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 | Cyanosis | OMIM:252010 | |
| Poems Syndrome | Acrocyanosis | ORPHA:2905 | |
| Histiocytoid Cardiomyopathy | Cyanosis | ORPHA:137675 | |
| Esophageal Atresia | Cyanosis | ORPHA:1199 | |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii | Acrocyanosis | OMIM:223900 | |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 | Cyanosis | OMIM:618426 | |
| Congenital Tracheomalacia | Cyanosis | ORPHA:95430 | |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 | Cyanosis, Palate telangiectasia, Gastrointestinal telangiectasia, Telangiectasia, Nail bed telang... | OMIM:187300 | |
| Atrial Septal Defect, Ostium Secundum Type | Cyanosis | ORPHA:99103 | |
| Hyperoxaluria, Primary, Type I | Acrocyanosis, Cutis marmorata | OMIM:259900 | |
| Familial Dysautonomia | Acrocyanosis | ORPHA:1764 | |
| Absence Of The Pulmonary Artery | Cyanosis, Hypocapnia | ORPHA:980 | |
| Unilateral Polymicrogyria | Cyanosis | ORPHA:268943 | |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta | Cyanosis | ORPHA:99050 | |
| Heterotaxy, Visceral, 1, X-Linked | Cyanosis | OMIM:306955 | |
| Pitt-Hopkins Syndrome | Acrocyanosis | ORPHA:2896 | |
| Hutchinson-Gilford Progeria Syndrome | Cyanosis, Premature skin wrinkling, Generalized abnormality of skin, Prominent superficial blood ... | ORPHA:740 | |
| Primary Hyperoxaluria | Acrocyanosis, Cutis marmorata | ORPHA:416 | |
| Dermatomyositis | Cutaneous photosensitivity, Acrocyanosis, Erythema, Telangiectasia of the skin | ORPHA:221 | |
| Postinfectious Vasculitis | Cutis marmorata, Palpable purpura, Acrocyanosis, Vasculitis in the skin | ORPHA:48435 | |
| Congenital Tracheal Stenosis | Cyanosis | ORPHA:141127 | |
| Aicardi-Goutières Syndrome | Prolonged neonatal jaundice, Acrocyanosis, Cutis marmorata | ORPHA:51 | |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome | Cyanosis | ORPHA:293987 | |
| Aortic Arch Interruption | Cyanosis | ORPHA:2299 | |
| Cardiac Valvular Dysplasia 1 | Cyanosis | OMIM:212093 | |
| Classical Ehlers-Danlos Syndrome | Acrocyanosis, Bruising susceptibility, Ecchymosis, Fragile skin, Prematurely aged appearance, Poo... | ORPHA:287 | |
| Eisenmenger Syndrome | Cyanosis, Hypoxemia | ORPHA:97214 | |
| Truncus Arteriosus | Cyanosis | ORPHA:3384 | |
| Coffin-Lowry Syndrome | Acrocyanosis, Cutis marmorata | OMIM:303600 | |
| Congenitally Corrected Transposition Of The Great Arteries | Cyanosis | ORPHA:216694 | |
| Goodpasture Syndrome | Cyanosis | OMIM:233450 | |
| Generalized Arterial Calcification Of Infancy | Cyanosis | ORPHA:51608 | |
| Hypermobile Ehlers-Danlos Syndrome | Acrocyanosis | ORPHA:285 | |
| Congenital Total Pulmonary Venous Return Anomaly | Cyanosis | ORPHA:99125 | |
| Temtamy Syndrome | ORPHA:1777 | ||
| Temtamy Syndrome | OMIM:218340 |
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| MGI Allele | Allele Type | Produced |
|---|---|---|
| Grcc10tm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
| Grcc10tm1(KOMP)Vlcg | Reporter-tagged deletion allele (with selection cassette) | Mice, ES Cells |
| Grcc10tm3(EUCOMM)Wtsi | Reporter-tagged deletion allele (with selection cassette) | Targeting vectors, ES Cells |
| Grcc10tm1.1(KOMP)Vlcg | Reporter-tagged deletion allele (post Cre, with no selection cassette) | Mice |
| Grcc10tm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | ES Cells |
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