Gene Summary

Name:
cingulin
Synonyms:
6330408J11Rik

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.

Phenotype System Allele Zyg Sex Life Stage P Value
cyanosis Cgntm1b(KOMP)Wtsi HOM E18.5 0.00
abnormal neural tube closure Cgntm1b(KOMP)Wtsi HOM E12.5 0.00
abnormal forebrain morphology Cgntm1b(KOMP)Wtsi HOM E12.5 0.00
preweaning lethality, complete penetrance Cgntm1b(KOMP)Wtsi HOM   Early adult 0.00
hemorrhage Cgntm1b(KOMP)Wtsi HOM E12.5 0.00
abnormal tail morphology Cgntm1b(KOMP)Wtsi HOM E18.5 0.00
abnormal embryo size Cgntm1b(KOMP)Wtsi HOM E18.5 0.00
abnormal craniofacial morphology Cgntm1b(KOMP)Wtsi HOM E12.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  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)
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)
Stomach  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
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 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus 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)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct 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 Not available
Prostate gland N/A heterozygote Not available
Skeletal muscle 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)
Striatum N/A heterozygote Not available
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Uterus 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% (1 of 1)
Embryo N/A homozygote 100% (1 of 1)
Brain N/A heterozygote 0.0% (0 of 1)
Brain N/A homozygote 100% (1 of 1)
Ear N/A heterozygote 0.0% (0 of 1)
Ear N/A homozygote 100% (1 of 1)
Eye N/A heterozygote 100% (1 of 1)
Eye N/A homozygote 100% (1 of 1)
Footplate N/A heterozygote 100% (1 of 1)
Footplate N/A homozygote 100% (1 of 1)
Forebrain N/A heterozygote 0.0% (0 of 1)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 100% (1 of 1)
Forelimb N/A homozygote 100% (1 of 1)
Handplate N/A heterozygote 100% (1 of 1)
Handplate N/A homozygote 100% (1 of 1)
Head N/A heterozygote 100% (1 of 1)
Head N/A homozygote 100% (1 of 1)
Heart N/A heterozygote 0.0% (0 of 1)
Heart N/A homozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 1)
Hindbrain N/A homozygote 100% (1 of 1)
Hindlimb N/A heterozygote 100% (1 of 1)
Hindlimb N/A homozygote 100% (1 of 1)
Liver N/A heterozygote 0.0% (0 of 1)
Liver N/A homozygote 100% (1 of 1)
Lung N/A heterozygote 0.0% (0 of 1)
Lung N/A homozygote 100% (1 of 1)
Mandibular process N/A heterozygote 100% (1 of 1)
Mandibular process N/A homozygote 100% (1 of 1)
Maxillary process N/A heterozygote 100% (1 of 1)
Maxillary process N/A homozygote 100% (1 of 1)
Midbrain N/A heterozygote 0.0% (0 of 1)
Midbrain N/A homozygote 0.0% (0 of 1)
N/A Ambiguous
Nose N/A homozygote 100% (1 of 1)
Oral cavity N/A heterozygote 100% (1 of 1)
Oral cavity N/A homozygote 100% (1 of 1)
Skin N/A heterozygote 0.0% (0 of 1)
Skin N/A homozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 1)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 100% (1 of 1)
Tail N/A homozygote 100% (1 of 1)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.79% (4 of 506)
aorta 0.2% (1 of 500)
brain 0.96% (5 of 522)
brainstem 0.38% (2 of 520)
brown adipose tissue 0.0%
cartilage tissue 0.2% (1 of 500)
cerebellum 0.58% (3 of 521)
cerebral cortex 0.39% (2 of 509)
epididymis 15.32% (19 of 124)
esophagus 1.93% (7 of 362)
eye 0.0%
heart 0.4% (2 of 502)
hippocampus 0.61% (3 of 492)
hypothalamus 0.41% (2 of 483)
kidney 5.04% (25 of 496)
large intestine 4.96% (25 of 504)
liver 0.0%
lower urinary tract 0.2% (1 of 508)
lung 0.2% (1 of 507)
lymph node 0.2% (1 of 498)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.2% (1 of 492)
oviduct 0.0%
pancreas 0.97% (5 of 513)
peripheral nervous system 0.19% (1 of 513)
peyers patch 0.0%
pituitary gland 0.2% (1 of 508)
prostate gland 2.02% (10 of 496)
skeletal muscle 0.0%
skin 0.19% (1 of 515)
small intestine 5.25% (26 of 495)
spinal cord 0.6% (3 of 503)
spleen 0.59% (3 of 509)
stomach 3.85% (20 of 519)
striatum 0.59% (3 of 507)
submandibular gland 1.63% (2 of 123)
testis 0.98% (5 of 512)
thalamus 0.0%
thymus 0.2% (1 of 507)
thyroid gland 3.12% (16 of 512)
trachea 0.57% (3 of 523)
urinary bladder 0.0%
uterus 0.39% (2 of 515)
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 1.76% (3 of 170)
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.61% (1 of 164)
forebrain 0.0%
forelimb 0.63% (1 of 158)
handplate 0.0%
head 1.73% (3 of 173)
heart 0.0%
hindbrain 1.26% (2 of 159)
hindlimb 0.64% (1 of 157)
liver 0.0%
lung 0.59% (1 of 170)
mandibular process 0.57% (1 of 176)
maxillary process 0.0%
midbrain 0.52% (1 of 191)
nose 4% (1 of 25)
oral cavity 0.0%
skin 0.0%
tail 0.58% (1 of 173)
tail somite group 0.0%

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Lateral Orientation

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

16 Images

Sleep Wake

Wake state (bmp file)

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

MicroCT E18.5

Embryo reconstruction

5 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

Adult LacZ

LacZ Images Section

15 Images

Gross Morphology Embryo E18.5

Images

2 Images

X-ray

XRay Images Forepaw

16 Images

Eye Morphology

Images Slit Lamp

2 Images

Embryo LacZ

LacZ images wholemount

8 Images

Eye Morphology

Images Ophthalmoscopy

5 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Cgn 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 Cgn by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Cyanosis And Hepatic Disease
Cyanosis OMIM:219400
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Hypertrophic cardiomyopathy, Low-output congestive heart failure ORPHA:91130
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis OMIM:302000
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Gastrocutaneous Syndrome
Peptic ulcer, Hiatus hernia OMIM:137270
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Phosphoserine Aminotransferase Deficiency
Cyanotic episode OMIM:610992
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Systolic heart murmur, Right ventricular failure, Right-to-left shunt, C... ORPHA:439
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Breath-Holding Spells
Cyanosis OMIM:607578
Apnea, Central Sleep
Cyanosis OMIM:207720
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Colonic Atresia
Peptic ulcer, Colonic atresia, Duodenal stenosis ORPHA:1198
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Cyanosis, Spina bifida, Cervical myelopathy OMIM:207950
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer OMIM:126840
Cardiac Valvular Dysplasia 2
Central cyanosis, Tricuspid regurgitation, Pulmonic stenosis, Pulmonary insufficiency, Palpitatio... OMIM:620067
Buerger Disease
Acrocyanosis, Vasculitis ORPHA:36258
Cholesterol Pneumonia
Cyanosis OMIM:215030
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Congenital Pulmonary Lymphangiectasia
Tricuspid regurgitation, Pulmonic stenosis, Cyanosis, Pulmonary arterial hypertension, Congestive... ORPHA:2414
Nk-Cell Enteropathy
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Intestinal polyp, Duodenal ulcer, St... ORPHA:263665
Acquired Methemoglobinemia
Palpitations, Tachycardia, Arrhythmia, Cyanosis, Syncope, Hypoxemia ORPHA:464453
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Systolic heart murmur, Transient ischemic attack, Bundle branch bloc... ORPHA:99103
Infant Acute Respiratory Distress Syndrome
Cyanosis, Tachycardia, Hypotension, Hypoxemia, Cardiac arrest, Bradycardia ORPHA:70587
Atrial Septal Defect, Ostium Primum Type
Congestive heart failure, Abnormal P wave, Fixed splitting of the second heart sound, Tricuspid r... ORPHA:99106
Pulmonary Arteriovenous Malformation
Telangiectasia, Hemothorax, Pulmonary hemorrhage, Palpitations, Cyanosis, Heart murmur, Myocardia... ORPHA:2038
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Abnormal P wave, Left-to-right shunt, Systolic heart murmur, Third... ORPHA:1329
Atrial Septal Defect, Coronary Sinus Type
Supraventricular arrhythmia, Bundle branch block, Left-to-right shunt, Systolic heart murmur, Pre... ORPHA:99104
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Left ventricular outflow tract obstruction, Cyanosis, Tachycardia, Abnormal QRS co... ORPHA:860
Motor Neuropathy, Peripheral, With Dysautonomia
Orthostatic hypotension, Cyanosis OMIM:252320
Atrioventricular Septal Defect 3
Cyanosis, Midsystolic murmur, First degree atrioventricular block, Hypertension, Pulmonary arteri... OMIM:600309
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Congenital Fibrinogen Deficiency
Bruising susceptibility, Subcutaneous hemorrhage, Cyanosis, Tachycardia, Internal hemorrhage ORPHA:335
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Tricuspid Atresia
Cyanosis ORPHA:1209
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Cyanosis, Severely reduced left ventricular ejection fraction, Hy... ORPHA:444013
Acquired Purpura Fulminans
Macular purpura, Intracranial hemorrhage, Shock, Internal hemorrhage, Acrocyanosis ORPHA:49566
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Hypotension, Shortened PR interval, Bradycardia, Cardiomyopathy, Congestive heart failure OMIM:261740
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Hypertrophic cardiomyopathy OMIM:610773
Hereditary Methemoglobinemia
Cyanosis ORPHA:621
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Criss-Cross Heart
Mitral stenosis, Pulmonic stenosis, Tricuspid stenosis, Cyanosis, Supravalvular aortic stenosis ORPHA:1461
Gastrocutaneous Syndrome
Peptic ulcer, Hiatus hernia ORPHA:2069
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis OMIM:263000
Kallmann Syndrome-Heart Disease Syndrome
Mitral regurgitation, Pulmonary insufficiency, Cyanosis, Heart murmur, Aortic regurgitation, Dila... ORPHA:2326
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Asbestos Intoxication
Oxygen desaturation on exertion, Right ventricular failure, Cyanosis, Hypoxemia, Hepatojugular re... ORPHA:2302
Restrictive Dermopathy 2
Cyanosis, Intrauterine growth retardation OMIM:619793
Tetrasomy 5P
Hydrocephalus, Cyanosis, Heart murmur, Pulmonary arterial hypertension, Congestive heart failure ORPHA:3309
Pulmonary Capillary Hemangiomatosis
Hemothorax, Right ventricular failure, Cyanosis, Elevated pulmonary artery pressure, Hypoxemia, D... ORPHA:199241
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Erythema, Vasculitis, Purpura, Gastrointestinal hemorrhage, Acrocyanosis ORPHA:343
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Atrioventricular block, Bradycardia OMIM:614407
Aortic Arch Interruption
Intermittent claudication, Blood pressure substantially higher in arms than legs, Tricuspid regur... ORPHA:2299
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis OMIM:250800
Hsd10 Disease, Infantile Type
Cyanosis, Hypertrophic cardiomyopathy ORPHA:391428
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Systolic heart murmur, Cyanosis, Hypoxemia, Intrauterine growth retardation ORPHA:555874
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Gastric ulcer, Duodenal ulcer, Esophageal ulceration OMIM:618372
Arnold-Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Aqueductal stenosis, Cyanosis, Meningocele ORPHA:1136
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hydrocephalus, Supraventricular tachycardia, Cyanosis, Tachycardi... ORPHA:137675
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98913
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Arrhythmia, Hypotension, Ventricular tachycardia, Cardiomyopathy ORPHA:159
Telangiectasia, Hereditary Hemorrhagic, Type 4
High-output congestive heart failure, Cerebral hemorrhage, Cyanosis, Right-to-left shunt, Subarac... OMIM:610655
Eosinophilic Granulomatosis With Polyangiitis
Urticaria, Recurrent intrapulmonary hemorrhage, Cutis marmorata, Myocarditis, Vasculitis, Myocard... ORPHA:183
Telangiectasia, Hereditary Hemorrhagic, Type 2
Melena, Subarachnoid hemorrhage, Hematochezia, Lip telangiectasia, Facial telangiectasia, Fingerp... OMIM:600376
Primary Pulmonary Hypoplasia
Hypoxemia, Cyanosis, Intrauterine growth retardation ORPHA:2257
Double Outlet Right Ventricle
Pulmonic stenosis, Cyanosis, Tachycardia, Heart murmur ORPHA:3426
Meckel Syndrome 14
Tricuspid regurgitation, Holoprosencephaly, Mitral regurgitation, Cyanosis, Occipital encephalocele OMIM:619879
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Heart murmur ORPHA:1867
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis ORPHA:1302
Telangiectasia, Hereditary Hemorrhagic, Type 1
Melena, Telangiectasia of the skin, Hemothorax, Pulmonary hemorrhage, Subarachnoid hemorrhage, He... OMIM:187300
Acute Interstitial Pneumonia
Hypoxemia, Hypertension, Cyanosis ORPHA:79126
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Intrauterine growth retardation, Cyanotic episode ORPHA:284417
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Chronic Pneumonitis Of Infancy
Hypoxemia, Cyanosis ORPHA:91359
Eisenmenger Syndrome
Angina pectoris, Supraventricular arrhythmia, Supraventricular tachycardia, Tricuspid regurgitati... ORPHA:97214
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Pulmonic stenosis, Cyanosis ORPHA:3304
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Right ventricular cardiomyopa... ORPHA:216694
Sepsis In Premature Infants
Petechiae, Cyanosis, Tachycardia, Hypotension, Purpura, Jaundice, Bradycardia ORPHA:90051
Ethylene Glycol Poisoning
Cyanosis, Tachycardia, Hypotension, Shock, Hypertension, Atrial fibrillation, Prolonged QT interv... ORPHA:31826
Ethylmalonic Encephalopathy
Petechiae, Acrocyanosis ORPHA:51188
Dravet Syndrome
Cyanotic episode ORPHA:33069
Aicardi-Goutieres Syndrome 1
Petechiae, Erythema, Vasculitis, Purpura, Prolonged neonatal jaundice, Acrocyanosis, Cardiomyopathy OMIM:225750
Laryngotracheoesophageal Cleft
Cyanosis ORPHA:2004
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Malabsorption, Duodenal ulcer, Steatorrhea ORPHA:3217
Encephalopathy, Ethylmalonic
Petechiae, Acrocyanosis OMIM:602473
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis OMIM:610910
Absence Of The Pulmonary Artery
Systolic heart murmur, Cyanosis, Tachycardia, Reduced left ventricular ejection fraction, Abnorma... ORPHA:980
Rare Circulatory System Disease
Intermittent claudication, Cyanosis ORPHA:98028
Hypocalciuric Hypercalcemia, Familial, Type Ii
Peptic ulcer OMIM:145981
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis, Pulmonary arterial hypertension OMIM:265120
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Left ventricular outflow tract obstruction, Cyanosis, Heart murmur, Pulmonar... ORPHA:99050
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis OMIM:261680
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Alg3-Cdg
Cardiomyopathy, Neural tube defect ORPHA:79321
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis OMIM:619580
Waardenburg Syndrome Type 3
Acrocyanosis ORPHA:896
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis ORPHA:747
Zollinger-Ellison Syndrome
Duodenal ulcer, Hematochezia, Intestinal obstruction, Peptic ulcer, Esophagitis, Gastrointestinal... ORPHA:913
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Cyanosis, Pulmonary arterial hypertension OMIM:610913
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Structural Heart Defects And Renal Anomalies Syndrome
Systolic heart murmur, Cyanosis OMIM:617478
Congenital Myasthenic Syndrome
Cyanosis ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98914
Choanal Atresia
Cyanosis ORPHA:137914
Hutchinson-Gilford Progeria Syndrome
Angina pectoris, Mitral stenosis, Aortic valve stenosis, Prominent superficial blood vessels, Ray... ORPHA:740
Hyperoxaluria, Primary, Type I
Intermittent claudication, Atrioventricular block, Raynaud phenomenon, Cutis marmorata, Acrocyano... OMIM:259900
Pachydermoperiostosis
Gastrointestinal hemorrhage, Malabsorption, Peptic ulcer ORPHA:2796
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Acrocyanosis, Hypertension OMIM:223900
Pulmonary Alveolar Microlithiasis
Oxygen desaturation on exertion, Right ventricular failure, Cyanosis, Hypoxemia, Increased pulmon... ORPHA:60025
Multiple Endocrine Neoplasia, Type I
Peptic ulcer, Zollinger-Ellison syndrome, Esophagitis OMIM:131100
Fucosidosis
Vascular skin abnormality, Acrocyanosis ORPHA:349
Myasthenia Gravis
Acrocyanosis, Raynaud phenomenon ORPHA:589
Dermatomyositis
Telangiectasia of the skin, Sinus tachycardia, Arrhythmia, Erythema, Myocarditis, Vasculitis, Myo... ORPHA:221
Primary Hyperoxaluria
Intermittent claudication, Raynaud phenomenon, Cutis marmorata, Heart block, Acrocyanosis, Cardio... ORPHA:416
Tarp Syndrome
Cyanosis, Intrauterine growth retardation ORPHA:2886
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Cyanosis OMIM:610921
Hypocalciuric Hypercalcemia, Familial, Type Iii
Peptic ulcer OMIM:600740
Familial Dysautonomia
Orthostatic hypotension, Tachycardia, Acrocyanosis, Hypertension ORPHA:1764
Poems Syndrome
Pulmonary arterial hypertension, Acrocyanosis ORPHA:2905
Heterotaxy, Visceral, 1, X-Linked
Myelomeningocele, Mitral stenosis, Hydrocephalus, Aqueductal stenosis, Pulmonic stenosis, Cyanosis OMIM:306955
Systemic Mastocytosis With Associated Hematologic Neoplasm
Peptic ulcer ORPHA:98849
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cyanosis, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy OMIM:252010
Unilateral Polymicrogyria
Cyanosis, Epistaxis ORPHA:268943
Posterior Meningocele
Occipital meningocele, Hydrocephalus, Neural tube defect, Meningocele, Lipomyelomeningocele ORPHA:268810
Aicardi-Goutières Syndrome
Raynaud phenomenon, Cutis marmorata, Arrhinencephaly, Prolonged neonatal jaundice, Hypertrophic c... ORPHA:51
Postinfectious Vasculitis
Vasculitis in the skin, Raynaud phenomenon, Cerebral vasculitis, Cutis marmorata, Palpable purpur... ORPHA:48435
Congenital Tracheomalacia
Cyanosis, Pulmonary arterial hypertension ORPHA:95430
Truncus Arteriosus
Abnormal heart valve physiology, Pulmonic stenosis, Cyanosis, Tachycardia, Aortic regurgitation, ... ORPHA:3384
Classical Ehlers-Danlos Syndrome
Abnormal heart valve physiology, Prematurely aged appearance, Bruising susceptibility, Orthostati... ORPHA:287
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Plasminogen Deficiency, Type I
Duodenal ulcer OMIM:217090
Multiple Endocrine Neoplasia Type 4
Peptic ulcer, Zollinger-Ellison syndrome, Esophagitis ORPHA:276152
Esophageal Atresia
Cyanosis ORPHA:1199
Multiple Endocrine Neoplasia Type 1
Melena, Gastroesophageal reflux, Hematemesis, Intestinal carcinoid, Duodenal ulcer, Peptic ulcer,... ORPHA:652
Hyperparathyroidism-Jaw Tumor Syndrome
Dysphagia, Peptic ulcer ORPHA:99880
Parathyroid Carcinoma
Dysphagia, Peptic ulcer ORPHA:143
Pitt-Hopkins Syndrome
Acrocyanosis ORPHA:2896
Gaisböck Syndrome
Peptic ulcer ORPHA:90041
Familial Hypocalciuric Hypercalcemia
Peptic ulcer ORPHA:405
Generalized Arterial Calcification Of Infancy
Cyanosis, Weak pulse, Retinal hemorrhage, Left ventricular systolic dysfunction, Hypertension, Tr... ORPHA:51608
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis ORPHA:293987
Menke-Hennekam Syndrome 2
Duodenal ulcer OMIM:618333
Williams Syndrome
Abnormal gastric mucosa morphology, Malabsorption, Gastroesophageal reflux, Macroglossia, Tracheo... ORPHA:904
Congenital Tracheal Stenosis
Cyanosis ORPHA:141127
Congenital Total Pulmonary Venous Return Anomaly
Tricuspid regurgitation, Mitral regurgitation, Right ventricular failure, Tachycardia, Cyanosis, ... ORPHA:99125
Goodpasture Syndrome
Pulmonary hemorrhage, Cyanosis OMIM:233450
Hypoplasminogenemia
Duodenal ulcer ORPHA:722
Coffin-Lowry Syndrome
Mitral regurgitation, Acrocyanosis, Cutis marmorata OMIM:303600
Immunodeficiency 82 With Systemic Inflammation
Crohn's disease, Colitis, Gastritis, Duodenal ulcer, Villous atrophy, Anoperineal fistula OMIM:619381
Coffin-Siris Syndrome 1
High palate, Intussusception, Cleft palate, Intestinal malrotation, Duodenal ulcer, Gastric ulcer OMIM:135900
Hypermobile Ehlers-Danlos Syndrome
Acrocyanosis, Arrhythmia, Umbilical hernia ORPHA:285
Semilobar Holoprosencephaly
Hydrocephalus, Abnormal heart rate variability, Neural tube defect ORPHA:220386
Alobar Holoprosencephaly
Hydrocephalus, Abnormal heart rate variability, Neural tube defect ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Abnormal heart rate variability, Neural tube defect ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Abnormal heart rate variability, Neural tube defect ORPHA:93924
Schinzel-Giedion Syndrome
Neural tube defect, Umbilical hernia ORPHA:798

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 Cgn

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 Cgn.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Igh-6tm1Cgn PMC7263671
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Ighmtm1Cgn PMC5827107

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Cgntm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Cgntm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Cgntm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter