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
hemorrhage Cgntm1b(KOMP)Wtsi HOM E12.5 0.00
abnormal tail morphology Cgntm1b(KOMP)Wtsi HOM E18.5 0.00
preweaning lethality, complete penetrance Cgntm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal craniofacial morphology Cgntm1b(KOMP)Wtsi HOM E12.5 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
abnormal embryo size Cgntm1b(KOMP)Wtsi HOM E18.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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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
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 0.7% (4 of 573)
aorta 0.18% (1 of 571)
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
epididymis 13.08% (17 of 130)
esophagus 1.8% (7 of 389)
eye 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
submandibular gland 1.56% (2 of 128)
testis 1.05% (6 of 572)
thalamus 0.0%
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
urinary bladder 0.0%
uterus 0.0%
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 1.18% (6 of 508)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

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

Sleep Wake

Wake state (bmp file)

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

16 Images

X-ray

XRay Images Forepaw

16 Images

Adult LacZ

LacZ Images Section

15 Images

Gross Morphology Embryo E18.5

Images

2 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

Eye Morphology

Images Ophthalmoscopy

5 Images

Eye Morphology

Images Slit Lamp

2 Images

Auditory Brain Stem Response

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

7 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
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Microcephaly OMIM:302000
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Cyanosis And Hepatic Disease
Cyanosis OMIM:219400
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Cyanosis, Low-output congestive heart failure ORPHA:91130
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Isolated Right Ventricular Hypoplasia
Right ventricular failure, Hypoxemia, Systolic heart murmur, Tricuspid regurgitation, Abnormal at... ORPHA:439
Breath-Holding Spells
Cyanosis OMIM:607578
Chiari Malformation Type Ii
Myelomeningocele, Cyanosis, Spina bifida, Hydrocephalus, Agenesis of corpus callosum OMIM:207950
Apnea, Central Sleep
Cyanosis OMIM:207720
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Progressive microcephaly ORPHA:71277
Buerger Disease
Acrocyanosis, Vasculitis ORPHA:36258
Cholesterol Pneumonia
Cyanosis OMIM:215030
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Transient ischemi... ORPHA:99103
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Cyanosis, Abnormal thalamic MRI signal intensity, Congestive heart f... ORPHA:444013
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Tricuspid regurgitation, Pulmonic stenosis, Cyanosis, Congestive... ORPHA:2414
Acquired Methemoglobinemia
Hypoxemia, Syncope, Palpitations, Tachycardia, Cyanosis, Arrhythmia ORPHA:464453
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Tachycardia, Bradycardia, Cyanosis, Cardiac arrest, Hypotension ORPHA:70587
Pulmonary Arteriovenous Malformation
Telangiectasia, Hypoxemia, Palpitations, Epistaxis, Pulmonary arterial hypertension, Pulmonary he... ORPHA:2038
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cerebral white matter hypoplasia, Intrauterine growth retardation, Simplified gyral pattern, Prim... ORPHA:284417
Atrial Septal Defect, Ostium Primum Type
Syncope, Abnormal P wave, Atrial fibrillation, Mitral regurgitation, Systolic heart murmur, Palpi... ORPHA:99106
Laryngeal Abductor Paralysis
Cyanosis, Microcephaly OMIM:150260
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Syncope, Left-to-right shunt, Systolic heart murmur, Palpitations, Pul... ORPHA:99104
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Bradycardia, Simplified gyral pattern, Acrocyanosis, Progressive microcep... OMIM:614407
Complete Atrioventricular Septal Defect
Right ventricular failure, Left-to-right shunt, Abnormal P wave, Systolic heart murmur, Atriovent... ORPHA:1329
Motor Neuropathy, Peripheral, With Dysautonomia
Orthostatic hypotension, Cyanosis OMIM:252320
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Abnormal QRS complex, Abnormality of blood circulation, Tachycardia, Cyanosis, Congest... ORPHA:860
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Hsd10 Disease, Infantile Type
Frontotemporal cerebral atrophy, Hypertrophic cardiomyopathy, Cyanosis, Abnormality of the basal ... ORPHA:391428
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer OMIM:126840
Atrioventricular Septal Defect 3
Hypertension, Pulmonary arterial hypertension, Cyanosis, Congestive heart failure, First degree a... OMIM:600309
Nk-Cell Enteropathy
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Stercoral ul... ORPHA:263665
Hereditary Methemoglobinemia
Temporal cortical atrophy, Frontal cortical atrophy, Cyanosis, Small basal ganglia, Microcephaly ORPHA:621
Arnold-Chiari Malformation Type Ii
Meningocele, Partial agenesis of the corpus callosum, Myelomeningocele, Cyanosis, Hydrocephalus, ... ORPHA:1136
Aicardi-Goutieres Syndrome 1
Deep white matter hypodensities, Petechiae, Erythema, Leukoencephalopathy, Cardiomyopathy, Acrocy... OMIM:225750
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Congenital Fibrinogen Deficiency
Tachycardia, Subcutaneous hemorrhage, Cyanosis, Internal hemorrhage, Bruising susceptibility ORPHA:335
Alg3-Cdg
Neural tube defect, Cerebral white matter atrophy, Abnormal cerebral morphology, Cardiomyopathy, ... ORPHA:79321
Tricuspid Atresia
Cyanosis ORPHA:1209
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Microcephaly OMIM:250800
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Macular purpura, Acrocyanosis, Internal hemorrhage ORPHA:49566
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Cyanosis OMIM:610773
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal cerebral white matter abnormalities, Dysplastic corpus callosum, Cyanosis, Multifocal ... ORPHA:488627
Glycogen Storage Disease Of Heart, Lethal Congenital
Bradycardia, Cardiomyopathy, Cyanosis, Congestive heart failure, Shortened PR interval, Hypotension OMIM:261740
Tetrasomy 5P
Pulmonary arterial hypertension, Pericallosal lipoma, Cyanosis, Hydrocephalus, Congestive heart f... ORPHA:3309
Criss-Cross Heart
Tricuspid stenosis, Supravalvular aortic stenosis, Mitral stenosis, Pulmonic stenosis, Cyanosis ORPHA:1461
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Encephalopathy, Ethylmalonic
Acrocyanosis, Focal T2 hyperintense basal ganglia lesion, Petechiae OMIM:602473
Ethylmalonic Encephalopathy
Acrocyanosis, Abnormal basal ganglia MRI signal intensity, Petechiae ORPHA:51188
Asbestos Intoxication
Right ventricular failure, Hypoxemia, Cyanosis, Hepatojugular reflux, Oxygen desaturation on exer... ORPHA:2302
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis OMIM:263000
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Pulmonary insufficiency, Mitral regurgitation, Aortic regurgitation, Cyan... ORPHA:2326
Pulmonary Capillary Hemangiomatosis
Right ventricular failure, Hypoxemia, Cyanosis, Elevated pulmonary artery pressure, Diffuse alveo... ORPHA:199241
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular tachycardia, Cardiomyopathy, Cyanosis, Arrhythmia, Microcephaly, Hypotension ORPHA:159
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Microcephaly, Heart murmur ORPHA:1867
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Acrocyanosis, Urticaria, Gastrointestinal hemorrhage, Vasculitis, Purpura ORPHA:343
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Histiocytoid Cardiomyopathy
Atrial fibrillation, Ventricular tachycardia, Atrioventricular block, Supraventricular tachycardi... ORPHA:137675
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Intrauterine growth retardation, Systolic heart murmur, Tricuspid regurgitation, Cyanosis ORPHA:555874
Primary Pulmonary Hypoplasia
Hypoxemia, Cyanosis, Intrauterine growth retardation, Microcephaly ORPHA:2257
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Cerebral atrophy OMIM:261680
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Double Outlet Right Ventricle
Cyanosis, Tachycardia, Heart murmur, Pulmonic stenosis ORPHA:3426
Telangiectasia, Hereditary Hemorrhagic, Type 4
Cerebral hemorrhage, Ischemic stroke, Conjunctival telangiectasia, Spontaneous, recurrent epistax... OMIM:610655
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Microcephaly, Pulmonic stenosis ORPHA:3304
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Hypertrophic cardiomyopathy, Hypertension, Recurrent intrapulmonary hemorrhage, Acro... ORPHA:183
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98913
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Aortic Arch Interruption
Shock, Hypertension, Systolic heart murmur, Aortic regurgitation, Tricuspid regurgitation, Interm... ORPHA:2299
Ethylene Glycol Poisoning
Shock, Hypertension, Prolonged QT interval, Atrial fibrillation, Tachycardia, Cyanosis, Cerebral ... ORPHA:31826
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Telangiectasia, Hereditary Hemorrhagic, Type 2
Cerebral hemorrhage, Fingerpad telangiectases, Hypertension, Ischemic stroke, Hematemesis, Conjun... OMIM:600376
Dravet Syndrome
Dysgenesis of the hippocampus, Cyanotic episode ORPHA:33069
Acute Interstitial Pneumonia
Hypoxemia, Cyanosis, Hypertension ORPHA:79126
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis ORPHA:1302
Chronic Pneumonitis Of Infancy
Hypoxemia, Cyanosis ORPHA:91359
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Cervical spina bifida, Spinal dysraphism ORPHA:63260
Eisenmenger Syndrome
Right ventricular failure, Hypoxemia, Syncope, Left-to-right shunt, Atrial fibrillation, Ventricu... ORPHA:97214
Telangiectasia, Hereditary Hemorrhagic, Type 1
Spontaneous, recurrent epistaxis, Melena, Transient ischemic attack, Nasal mucosa telangiectasia,... OMIM:187300
Sepsis In Premature Infants
Petechiae, Tachycardia, Bradycardia, Cyanosis, Purpura, Hypotension, Jaundice ORPHA:90051
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Intrauterine growth retardation, Anencephaly, Holoprosencephaly, Hydrocephalus, Apla... ORPHA:1908
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Abnormal atrioventricular co... ORPHA:216694
Waardenburg Syndrome Type 3
Acrocyanosis, Microcephaly ORPHA:896
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Thin corpus callosum, Microcephaly OMIM:619580
Laryngotracheoesophageal Cleft
Cyanosis ORPHA:2004
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis OMIM:610910
Absence Of The Pulmonary Artery
Reduced ejection fraction, Systolic heart murmur, Atrial fibrillation, Pulmonary arterial hyperte... ORPHA:980
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Esophageal ulceration, Gastric ulcer OMIM:618372
Rare Circulatory System Disease
Cyanosis, Intermittent claudication ORPHA:98028
Structural Heart Defects And Renal Anomalies Syndrome
Partial agenesis of the corpus callosum, Cyanosis, Microcephaly, Systolic heart murmur OMIM:617478
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis, Pulmonary arterial hypertension OMIM:265120
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Focal T2 hyperintense basal ... OMIM:252010
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Pulmonary arterial hypertension, Cyanosis, Congestive heart failure, Left ve... ORPHA:99050
Unilateral Polymicrogyria
Perisylvian polymicrogyria, Epistaxis, Cyanosis, Cortical dysplasia, Microcephaly ORPHA:268943
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis ORPHA:747
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Cyanosis, Pulmonary arterial hypertension OMIM:610913
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Steatorrhea, Malabsorption ORPHA:3217
Congenital Myasthenic Syndrome
Cyanosis ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98914
Hyperoxaluria, Primary, Type I
Atrioventricular block, Raynaud phenomenon, Intermittent claudication, Acrocyanosis, Arterial occ... OMIM:259900
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Multifocal cerebral white matter abnormalities, Arrhinencephaly, Deg... ORPHA:51
Hutchinson-Gilford Progeria Syndrome
Hypertension, Intracranial hemorrhage, Mitral regurgitation, Aortic regurgitation, Pulmonary arte... ORPHA:740
Choanal Atresia
Cyanosis ORPHA:137914
Tarp Syndrome
Cyanosis, Intrauterine growth retardation, Abnormal corpus callosum morphology ORPHA:2886
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Aortic valve stenosis, Spinal dysraphism, Mitral stenosis, Microcephaly OMIM:617660
Myasthenia Gravis
Acrocyanosis, Raynaud phenomenon ORPHA:589
Pulmonary Alveolar Microlithiasis
Right ventricular failure, Hypoxemia, Cyanosis, Increased pulmonary vascular resistance, Oxygen d... ORPHA:60025
Poems Syndrome
Acrocyanosis, Pulmonary arterial hypertension, Increased circulating prolactin concentration ORPHA:2905
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis, Hypertension, Tachycardia, Orthostatic hypotension OMIM:223900
Dermatomyositis
Myocarditis, Pericarditis, Cutaneous photosensitivity, Erythema, Telangiectasia of the skin, Pulm... ORPHA:221
Primary Hyperoxaluria
Cardiomyopathy, Heart block, Raynaud phenomenon, Acrocyanosis, Intermittent claudication, Cutis m... ORPHA:416
Fucosidosis
Acrocyanosis, Vascular skin abnormality ORPHA:349
Familial Dysautonomia
Acrocyanosis, Hypertension, Tachycardia, Orthostatic hypotension ORPHA:1764
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Cyanosis OMIM:610921
Hemangiomatosis, Cutaneous, With Associated Features
Acrocyanosis OMIM:234800
Posterior Meningocele
Meningocele, Occipital meningocele, Neural tube defect, Hydrocephalus, Lipomyelomeningocele ORPHA:268810
Postinfectious Vasculitis
Hypertension, Palpable purpura, Vasculitis in the skin, Raynaud phenomenon, Cardiomyopathy, Acroc... ORPHA:48435
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Gonadotropin deficiency, Cyanosis, Adrenocorticotropic hormone deficiency, Central diabetes insip... ORPHA:293987
Iniencephaly
Anencephaly, Myelomeningocele, Holoprosencephaly, Lissencephaly, Spina bifida, Hydrocephalus, Spi... ORPHA:63259
Heterotaxy, Visceral, 1, X-Linked
Cyanosis, Pulmonic stenosis OMIM:306955
Truncus Arteriosus
Intrauterine growth retardation, Aortic regurgitation, Tachycardia, Pulmonic stenosis, Cyanosis, ... ORPHA:3384
Pitt-Hopkins Syndrome
Acrocyanosis, Aplasia/Hypoplasia of the corpus callosum, Small cerebral cortex, Microcephaly ORPHA:2896
Semilobar Holoprosencephaly
Abnormal hypothalamus physiology, Abnormal morphology of the olfactory bulb, Neural tube defect, ... ORPHA:220386
Alobar Holoprosencephaly
Abnormal hypothalamus physiology, Abnormal morphology of the olfactory bulb, Neural tube defect, ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormal hypothalamus physiology, Abnormal morphology of the olfactory bulb, Neural tube defect, ... ORPHA:93926
Lobar Holoprosencephaly
Abnormal hypothalamus physiology, Abnormal morphology of the olfactory bulb, Neural tube defect, ... ORPHA:93924
Classical Ehlers-Danlos Syndrome
Ecchymosis, Mitral regurgitation, Orthostatic hypotension, Arterial rupture, Acrocyanosis, Premat... ORPHA:287
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Generalized Arterial Calcification Of Infancy
Hypertension, Pulmonary arterial hypertension, Encephalomalacia, Left ventricular systolic dysfun... ORPHA:51608
Congenital Tracheomalacia
Cyanosis, Pulmonary arterial hypertension ORPHA:95430
Esophageal Atresia
Cyanosis ORPHA:1199
Congenital Tracheal Stenosis
Cyanosis ORPHA:141127
Schinzel-Giedion Syndrome
Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Umbilical hernia, Neural tube defect ORPHA:798
Coffin-Lowry Syndrome
Acrocyanosis, Mitral regurgitation, Cutis marmorata, Microcephaly OMIM:303600
Congenital Total Pulmonary Venous Return Anomaly
Right ventricular failure, Mitral regurgitation, Low-output congestive heart failure, Pulmonary a... ORPHA:99125
Goodpasture Syndrome
Cyanosis, Pulmonary hemorrhage OMIM:233450
Hypermobile Ehlers-Danlos Syndrome
Acrocyanosis, Arrhythmia, Umbilical hernia ORPHA:285

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

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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

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