Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
PTK2 protein tyrosine kinase 2
Synonyms:
FRNK,  FAK,  Fadk

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ptk2 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 Ptk2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... OMIM:618164
Cardiac Diverticulum
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Umbilical hern... ORPHA:1686
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Abnormal coronary artery mor... ORPHA:860
Diabetic Embryopathy
Hydrocephalus, Cleft palate, Aplasia/Hypoplasia of the abdominal wall musculature, Tetralogy of F... ORPHA:1926
Distal Trisomy 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Congenital diaphr... ORPHA:1120
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Heart murmur, Aorto-ventricular tunnel, Aortic root aneurysm... ORPHA:3400
Fixed Subaortic Stenosis
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... ORPHA:3092
Catel-Manzke Syndrome
High palate, Cleft palate, Glossoptosis, Coarctation of aorta, Camptodactyly, Ventricular septal ... OMIM:616145
Familial Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Abnormal left ventricular function, Stro... ORPHA:229
Klippel-Trénaunay Syndrome
Atrial septal defect, Hepatomegaly, Hydrops fetalis, Pulmonary embolism, Prolonged bleeding time,... ORPHA:90308
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Abnormal left ventricular func... OMIM:132900
Arterial Tortuosity Syndrome
High palate, Telangiectases of the cheeks, Aortic valve stenosis, Congenital diaphragmatic hernia... OMIM:208050
Septopreoptic Holoprosencephaly
Perisylvian polymicrogyria, Coarctation of aorta, Anteriorly placed anus, Ethmoidal encephalocele ORPHA:280195
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Partial Atrioventricular Septal Defect
Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is... ORPHA:1330
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Pagod Syndrome
Congenital diaphragmatic hernia, Hypoplastic left heart, Sudden cardiac death, Arrhythmia, Pulmon... ORPHA:991
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Cleft palate, Tetralogy of Fallot, Ventricular septal defect, Ab... ORPHA:1166
Coarctation Of Aorta
Coarctation of aorta, Hypoplastic left heart OMIM:120000
Phaver Syndrome
Myelomeningocele, Camptodactyly of finger, Coarctation of aorta, Pulmonary artery atresia, Ventri... ORPHA:2876
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart OMIM:241550
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Stroke, Subarachnoid hemorrhage, Aortic dissection, Aortic root aneurysm, Transient ischemic atta... ORPHA:91387
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Muscle fiber atrophy, High, narrow palate, EMG: myopathic abnormalities, Arterial dissection, Abn... ORPHA:1900
Scimitar Syndrome
Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal defect, Descending aorta... ORPHA:185
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Cleft palate, Ventricular septal defect, Intrauterine growth retardation, Ab... ORPHA:2516
Aortic Aneurysm, Familial Thoracic 9
High palate, Thoracic aortic aneurysm, Aortic tortuosity, Ascending aortic dissection, Mitral val... OMIM:616166
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Cardiomyopathy, Abnormal aortic morphology, Arrhythmia ORPHA:3222
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Anal atresia, Hydrocephalus, Atrial septal defect, Holoprosencephaly, Coarctat... OMIM:264480
Craniofaciofrontodigital Syndrome
Stroke, Anomalous branches of internal carotid artery, Ventricular septal defect, Pyloric stenosi... ORPHA:363705
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Left ventricu... ORPHA:99050
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Atrioventricular... ORPHA:392
Developmental Delay With Or Without Dysmorphic Facies And Autism
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Cleft palate, Coarctation of... OMIM:618454
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Hydrocephalus, Atrioventricular canal defect, Ventricular septal defect,... OMIM:306955
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... OMIM:612474
Fg Syndrome Type 1
High palate, Anal atresia, Hydrocephalus, Malrotation of colon, Atrial septal defect, Coarctation... ORPHA:93932
Hypermethioninemia Due To Adenosine Kinase Deficiency
Pulmonic stenosis, Skeletal muscle atrophy, Coarctation of aorta, Atrial septal defect OMIM:614300
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Neonatal death, Patent ductus arteriosus, Coarctation of aorta OMIM:601612
16P13.11 Microduplication Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... ORPHA:261243
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bicuspid aortic valve, Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect, Patent... ORPHA:284169
8P23.1 Microdeletion Syndrome
High palate, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Hypoplastic lef... ORPHA:251071
Mosaic Trisomy 16
Abnormal heart morphology, Single coronary artery origin, Atrial septal defect, Coarctation of ao... ORPHA:1708
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Left ventricular outflow tract obst... OMIM:613854
Transaldolase Deficiency
Telangiectasia, Biventricular hypertrophy, Atrial septal defect, Coarctation of aorta ORPHA:101028
2Q37 Microdeletion Syndrome
Pyloric stenosis, Congenital diaphragmatic hernia, Abnormal aortic morphology, Umbilical hernia ORPHA:1001
Myofibrillar Myopathy 11
Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... OMIM:619178
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr... ORPHA:2299
Intellectual Developmental Disorder, Autosomal Dominant 21
Patent ductus arteriosus, Coarctation of aorta, Cleft palate, Atrial septal defect OMIM:615502
Holoprosencephaly
Abnormal pulmonary valve morphology, Hydrocephalus, Congenital diaphragmatic hernia, Intestinal a... ORPHA:2162
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoplastic left heart, Cleft palate, Pulmonic stenosis, Intestina... ORPHA:3426
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, High, narrow palate, Cleft palate, Coarctation of aorta, Spina bifida occu... ORPHA:2780
Fibromuscular Dysplasia, Arterial
Intermittent claudication, Stroke, Renovascular hypertension, Myocardial infarction, Aortic disse... OMIM:135580
Mullegama-Klein-Martinez Syndrome
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Cleft palate, Hypoplastic le... OMIM:301022
Mucopolysaccharidosis Type 2
Abnormal pulmonary valve morphology, Peripheral arterial stenosis, Abnormal mitral valve morpholo... ORPHA:580
Methimazole Embryofetopathy
Intrauterine growth retardation, Tracheoesophageal fistula, Coarctation of aorta, Ventricular sep... ORPHA:1923
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... OMIM:613426
Familial Cerebral Saccular Aneurysm
Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Aortic dissection, Aor... ORPHA:231160
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Systolic heart murmur, Abnormal coronary artery morphology, R... ORPHA:980
Fanconi Anemia
High palate, Abnormal cardiac septum morphology, Arteriovenous malformation, Hydrocephalus, Cleft... ORPHA:84
Mucopolysaccharidosis Type 2, Severe Form
Abnormal pulmonary valve morphology, Peripheral arterial stenosis, Abnormal mitral valve morpholo... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal pulmonary valve morphology, Peripheral arterial stenosis, Abnormal mitral valve morpholo... ORPHA:217093
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Ventricular septal defect... OMIM:265380
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Aortic rupture, Tricuspid regurgitation, Cleft soft palate, Mitral regurgitation, Type 1 muscle f... OMIM:614557
Aneurysm-Osteoarthritis Syndrome
High palate, Cleft palate, Pulmonic stenosis, Left ventricular hypertrophy, Camptodactyly of fing... ORPHA:284984
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Duodenal atresia, Intestinal atresia, Ventricular septal defect, Abnormal tricuspid valve morphol... ORPHA:3405
Loeys-Dietz Syndrome 2
Hydrocephalus, Cleft palate, Pulmonary artery aneurysm, Aortic root aneurysm, Umbilical hernia, A... OMIM:610168
Loeys-Dietz Syndrome 3
High palate, Tortuous cerebral arteries, Cleft palate, Aortic tortuosity, Subarachnoid hemorrhage... OMIM:613795
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Hypoplastic left heart, Intestinal malrotation, Bifid tongue, Bilateral cleft lip and palate, Pat... ORPHA:2001
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Hiatus hernia, Abnormal carotid artery morphology, Hy... ORPHA:3342
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
High palate, Periventricular heterotopia, Tricuspid regurgitation, Atrioventricular canal defect,... OMIM:618929
Opitz Gbbb Syndrome
High palate, Anal atresia, Ectopic anus, Atrial septal defect, Congenital diaphragmatic hernia, C... ORPHA:2745
Homozygous Familial Hypercholesterolemia
Angina pectoris, Premature coronary artery atherosclerosis, Aortic atherosclerotic lesion, Sudden... ORPHA:391665
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Patent ductus arteriosus, Coarctation of aorta, Atrial septal de... OMIM:614857
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Ascending aortic dissection, Aortic rupture, Aortic aneurysm OMIM:613780
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... OMIM:611788
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... OMIM:618780
Aorta Coarctation
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... ORPHA:1457
Marfan Syndrome
High, narrow palate, Cleft palate, Aortic tortuosity, Ascending aortic dissection, Arterial disse... ORPHA:558
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Lowry-Maclean Syndrome
Hydrocephalus, Congenital diaphragmatic hernia, Cleft palate, Atrioventricular canal defect, High... ORPHA:2409
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Aortic aneurysm, Myxomatous mitral valve degeneration, Aortic dissection, Mucoid extracellular ma... OMIM:130090
Conotruncal Heart Malformations
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... OMIM:217095
Transaldolase Deficiency
Atrial septal defect, Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, ... OMIM:606003
Microphthalmia, Syndromic 9
Atrial septal defect, Congenital diaphragmatic hernia, Pulmonic stenosis, Single ventricle, Diaph... OMIM:601186
Loeys-Dietz Syndrome 4
Torticollis, High palate, Bicuspid aortic valve, High, narrow palate, Eosinophilic infiltration o... OMIM:614816
Autosomal Recessive Robinow Syndrome
Abnormal pulmonary valve morphology, Ectopic anus, Atrial septal defect, Camptodactyly of finger,... ORPHA:1507
Buschke-Ollendorff Syndrome
Generalized limb muscle atrophy, Hypertension, Abnormal aortic morphology, Flexion contracture ORPHA:1306
Jacobsen Syndrome
Ectopic anus, Duodenal atresia, Aortic valve stenosis, Hypoplastic left heart, Intestinal malrota... ORPHA:2308
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Left sup... OMIM:619702
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Ventricular septal defect, Umbilical hernia, Microcolon, Intrauterin... OMIM:600001
Fryns Syndrome
High palate, Abnormal cardiac septum morphology, Ectopic anus, Anal atresia, Aganglionic megacolo... ORPHA:2059
Isotretinoin-Like Syndrome
Hydrocephalus, Abnormal cardiac ventricle morphology, Bicuspid aortic valve, Aortic valve stenosi... ORPHA:2306
Kleefstra Syndrome Due To 9Q34 Microdeletion
Abnormal cardiac septum morphology, Aortic valve stenosis, Macroglossia, Coarctation of aorta, Te... ORPHA:96147
Giant Cell Arteritis
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:397
Hardikar Syndrome
Atrial septal defect, Hematemesis, Hypertension, Intestinal malrotation, Coarctation of aorta, Ve... OMIM:301068
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Atrioventricular canal defect, Coarctation of aorta, Tetralogy of Fallot, ... ORPHA:508498
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal common carotid artery morphology, Intestinal obstruction, Abno... ORPHA:449400
Congenital Heart Defects And Skeletal Malformations Syndrome
High palate, Anal atresia, Atrial septal defect, Congenital diaphragmatic hernia, Intestinal malr... OMIM:617602
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Bicuspid aortic valve, Congestive heart failure, Atrial se... OMIM:620066
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Total... ORPHA:261183
Congenital Disorder Of Glycosylation, Type It
Cleft palate, Sudden cardiac death, Tachycardia, Coarctation of aorta, Bifid uvula, Ventricular s... OMIM:614921
Fanconi Anemia, Complementation Group B
Hydrocephalus, Duodenal atresia, Tracheoesophageal fistula, Esophageal atresia, Coarctation of ao... OMIM:300514
Noonan Syndrome 9
Pulmonic stenosis, Ventricular septal defect, Coarctation of aorta OMIM:616559
Noonan Syndrome 2
Mitral stenosis, High palate, Atrial septal defect, Atrioventricular canal defect, Pulmonic steno... OMIM:605275
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Polymicrogyria, Camptodactyly, Aortic dissection, Vascular dilatation, Varicose veins, Abnormal h... OMIM:618343
Mosaic Variegated Aneuploidy Syndrome
Duodenal atresia, Atrial septal defect, Cleft palate, Holoprosencephaly, Stomach cancer, Muscular... ORPHA:1052
Naxos Disease
Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... OMIM:601214
Acrocardiofacial Syndrome
Mitral stenosis, Anal atresia, Atrial septal defect, Cleft palate, Camptodactyly of finger, Coarc... ORPHA:2008
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Torticollis, Atrioventricular canal defect, Coarctation of aorta, Unilateral facial palsy, Bifid ... OMIM:619480
Meckel Syndrome, Type 1
Abnormal cardiac septum morphology, Hydrocephalus, Intrauterine growth retardation, Anal atresia,... OMIM:249000
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Coarctation of aorta,... ORPHA:371428
Noonan Syndrome 10
Mitral stenosis, High palate, Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrop... OMIM:616564
Viss Syndrome
High palate, Tortuous cerebral arteries, Chronic gastritis, Celiac disease, Aortic tortuosity, Pu... OMIM:619472
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect OMIM:212090
Robinow Syndrome
Tricuspid atresia, Pulmonary valve atresia, Atrial septal defect, Pulmonic stenosis, Bifid tongue... ORPHA:97360
22Q11.2 Deletion Syndrome
Tricuspid atresia, Hydrocephalus, Cleft palate, Ventricular septal defect, Umbilical hernia, Gast... ORPHA:567
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Secundum atrial septal defect, Cleft palate, Coarctation of aorta, Ventricu... OMIM:600987
Mosaic Variegated Aneuploidy Syndrome 2
Severe intrauterine growth retardation, Duodenal atresia, Atrial septal defect, Coarctation of ao... OMIM:614114
Sifrim-Hitz-Weiss Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Bifid uvula, Ventricular septal ... OMIM:617159
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Hamartoma of tongue, Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarcta... OMIM:217085
Familial Bicuspid Aortic Valve
Bicuspid aortic valve, Aortic valve calcification, Aortic valve stenosis, Hypoplastic left heart,... ORPHA:402075
Kabuki Syndrome 2
High palate, Atrial septal defect, Cleft palate, Atrioventricular canal defect, Pulmonic stenosis... OMIM:300867
Thrombocytopenia-Absent Radius Syndrome
Atrial septal defect, Cleft palate, Atrioventricular canal defect, Shoulder muscle hypoplasia, Co... OMIM:274000
Heterotaxy, Visceral, 5, Autosomal
Double outlet right ventricle, Duodenal atresia, Atrial septal defect, Double inlet left ventricl... OMIM:270100
Kleefstra Syndrome
Bicuspid aortic valve, Macroglossia, Arrhythmia, Coarctation of aorta, Tetralogy of Fallot, Ventr... ORPHA:261494
Maternal Phenylketonuria
Double outlet right ventricle, High palate, Hypoplastic left heart, Esophageal atresia, Coarctati... ORPHA:2209
Cocaine Intoxication
Supraventricular arrhythmia, Colitis, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveola... ORPHA:90068
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Interrupted aortic arch, Coarctation of aorta OMIM:107550
Mosaic Trisomy 1
Congenital diaphragmatic hernia, Cleft palate, Camptodactyly of finger, Coarctation of aorta, Pol... ORPHA:1692
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
High palate, Peripheral pulmonary artery stenosis, Atrial septal defect, Tricuspid regurgitation,... OMIM:617506
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... ORPHA:1455
Meacham Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Aortic valve stenosis, Congenital diaphr... ORPHA:3097
Osteogenesis Imperfecta
Hydrocephalus, Cerebral hemorrhage, Flexion contracture, Arterial dissection, Noncommunicating hy... ORPHA:666
Phace Association
Anomalous branches of internal carotid artery, Coarctation of aorta, Ventricular septal defect, P... OMIM:606519
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Stroke, Hepatic arteriovenous malformation, Mitral regurgitation, Pulmonary arteriovenous malform... OMIM:175050
Rubinstein-Taybi Syndrome 1
High palate, Narrow palate, Atrial septal defect, Hypoplastic left heart, Flexion contracture, Cl... OMIM:180849
Encephalocraniocutaneous Lipomatosis
Tricuspid valve prolapse, Aortic valve stenosis, Coarctation of aorta, Pulmonary arterial hyperte... ORPHA:2396
Aortic Valve Disease 2
Calcification of the aorta, Bicuspid aortic valve, Coarctation of aorta, Aortic aneurysm OMIM:614823
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Flexion contracture, Hypertrophic cardiomyopathy, Abnormal mitochondrial shape, Increased variabi... ORPHA:17
Vascular Ehlers-Danlos Syndrome
Telangiectasia of the skin, Aplasia/Hypoplasia of the abdominal wall musculature, Pulmonary arter... ORPHA:286
Marfan Syndrome
Tricuspid valve prolapse, High palate, Mitral annular calcification, Bicuspid aortic valve, Narro... OMIM:154700
Distal Monosomy 15Q
Mitral stenosis, Double outlet right ventricle with doubly committed ventricular septal defect an... ORPHA:1596
Congenital Total Pulmonary Venous Return Anomaly
Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect, Low-output c... ORPHA:99125
Nicolaides-Baraitser Syndrome
High, narrow palate, Intrauterine growth retardation, Coarctation of aorta, Umbilical hernia OMIM:601358
Floating-Harbor Syndrome
Atrial septal defect, Coarctation of aorta, Umbilical hernia, Persistent left superior vena cava,... OMIM:136140
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Mitral stenosis, Patent ductus arteriosus, Coarctation of aorta OMIM:617260
Kaufman Oculocerebrofacial Syndrome
High palate, Atrial septal defect, Intestinal malrotation, Coarctation of aorta, Ventricular sept... OMIM:244450
Myhre Syndrome
Generalized muscle hypertrophy, Atrial septal defect, Aortic valve stenosis, Cleft palate, Skelet... OMIM:139210
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Stillbirth, Gray matter heterotopia, Atrial septal defect, Flexion contracture, ... OMIM:210710
Oculoectodermal Syndrome
Atrial septal defect, Coarctation of aorta, Patent ductus arteriosus, Transient ischemic attack, ... OMIM:600268
Smith-Lemli-Opitz Syndrome
Hydrocephalus, Periventricular heterotopia, Atrial septal defect, Cleft palate, Holoprosencephaly... OMIM:270400
Alport Syndrome
Hypertension, Renal glomerular foam cells, Abnormal aortic morphology, Aortic aneurysm ORPHA:63
Diamond-Blackfan Anemia 1
High palate, Atrial septal defect, Cleft palate, Tricuspid stenosis, Coarctation of aorta, Ventri... OMIM:105650
Generalized Arterial Calcification Of Infancy
Stroke, Medial calcification of medium-sized arteries, Arterial calcification, Hypertension, Calc... ORPHA:51608
Pallister-Hall Syndrome
Anal atresia, Atrial septal defect, Cleft palate, Holoprosencephaly, Atrioventricular canal defec... ORPHA:672
8Q24.3 Microdeletion Syndrome
Cleft maxillary alveolus, Atrioventricular canal defect, Coarctation of aorta, Spina bifida occul... ORPHA:508488
Diaphragmatic Hernia 4, With Cardiovascular Defects
Diaphragmatic eventration, Aplasia of the left hemidiaphragm, Pulmonary artery hypoplasia, Ventri... OMIM:620025
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Coarctation of aorta, ... ORPHA:268249
Phace Syndrome
Abnormal cardiac septum morphology, Abnormal carotid artery morphology, Coarctation of aorta, Tet... ORPHA:42775
Autosomal Dominant Cutis Laxa
Peripheral pulmonary artery stenosis, Mitral regurgitation, Coarctation of aorta, Small bowel div... ORPHA:90348
Meester-Loeys Syndrome
Flexion contracture, Mitral regurgitation, Pulmonary artery aneurysm, Bifid uvula, Camptodactyly,... OMIM:300989
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:610338
Loeys-Dietz Syndrome
High palate, Camptodactyly of finger, Arterial dissection, Bifid uvula, Arterial tortuosity, Aort... ORPHA:60030
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Hypoplastic left heart, Rectoperineal fistula, Coarctation of aorta, Tetralogy of Fallot, Ventric... OMIM:618748
Esophageal Atresia
Duodenal atresia, Cleft palate, Barrett esophagus, Intestinal malrotation, Tracheoesophageal fist... ORPHA:1199
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Cleft palate, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Patent ductus... OMIM:600460
Kabuki Syndrome
High palate, Abnormal cardiac septum morphology, Hydrocephalus, Congenital diaphragmatic hernia, ... ORPHA:2322
17Q11 Microdeletion Syndrome
Abnormal heart morphology, Telangiectasia of the skin, Stroke, Abnormal internal carotid artery m... ORPHA:97685
Craniofacial Microsomia
Hydrocephalus, Cleft palate, Hypoplasia of facial musculature, Coarctation of aorta, Tetralogy of... OMIM:164210
Turner Syndrome Due To Structural X Chromosome Anomalies
High palate, Bicuspid aortic valve, Atrial septal defect, Hypoplastic left heart, High, narrow pa... ORPHA:99413
Turner Syndrome
High palate, Bicuspid aortic valve, Atrial septal defect, Hypoplastic left heart, High, narrow pa... ORPHA:881
Mosaic Monosomy X
High palate, Bicuspid aortic valve, Atrial septal defect, Hypoplastic left heart, High, narrow pa... ORPHA:99228
Monosomy X
High palate, Bicuspid aortic valve, Atrial septal defect, Hypoplastic left heart, High, narrow pa... ORPHA:99226
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Schimmelpenning-Feuerstein-Mims Syndrome
Coarctation of aorta OMIM:163200
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Narrow palate, Aortic valve stenosis, Atrial septal defect, Pulmonic steno... ORPHA:353281
Blackfan-Diamond Anemia
High palate, Abnormality of the thenar eminence, Atrial septal defect, Radial artery aplasia, Coa... ORPHA:124
Ctcf-Related Neurodevelopmental Disorder
Atrial septal defect, Cleft palate, Mitral regurgitation, Pulmonary hemorrhage, Coarctation of ao... ORPHA:363611
Igg4-Related Kidney Disease
Arteritis, Sialadenitis, Abnormal aortic morphology, Pericarditis ORPHA:449395
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
High palate, Bicuspid aortic valve, Abnormal subclavian artery morphology, Aortic valve stenosis,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
High palate, Bicuspid aortic valve, Abnormal subclavian artery morphology, Aortic valve stenosis,... ORPHA:353277
45,X/46,Xy Mixed Gonadal Dysgenesis
High palate, Bicuspid aortic valve, Tachycardia, Coarctation of aorta, Muscle hypertrophy of the ... ORPHA:1772
Alagille Syndrome 1
Peripheral pulmonary artery stenosis, Stroke, Atrial septal defect, Coarctation of aorta, Tetralo... OMIM:118450
Noonan Syndrome 1
High palate, Atrial septal defect, High, narrow palate, Cleft palate, Pulmonic stenosis, Coarctat... OMIM:163950
Pallister-Killian Syndrome
Anal atresia, Aortic valve stenosis, Congenital diaphragmatic hernia, Flexion contracture, Atrial... OMIM:601803
Kabuki Syndrome 1
High palate, Anal atresia, Hydrocephalus, Malabsorption, Atrial septal defect, Cleft palate, Inte... OMIM:147920
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Aplasia of the epiglottis, Patent ductus arteriosus, Coarctation of aorta, Atrioventricular canal... OMIM:617088
Floating-Harbor Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Persistent left superior vena ca... ORPHA:2044
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Periventricular heterotopia, Cleft palate, Pulmonary artery sling, Polymicrogyria, Ventricular se... ORPHA:261552
Blomstrand Lethal Chondrodysplasia
Protruding tongue, Coarctation of aorta ORPHA:50945
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Abnormal pulmonary valve morphology, Bicuspid aortic valve, Periventricular heterotopia, Aortic v... ORPHA:261537
Mowat-Wilson Syndrome
Abnormal cardiac septum morphology, Bicuspid aortic valve, Periventricular heterotopia, Aortic va... ORPHA:2152
Visceral Steatosis, Congenital
Myocardial steatosis, Neonatal death OMIM:228100

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 Ptk2

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 Ptk2.

There are 1 publication 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) Ptk2bem1(IMPC)Wtsi PMC7263671

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Ptk2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ptk2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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