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:
Fadk,  FAK,  FRNK

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
Abnormal heart morphology, Patent ductus arteriosus, Umbilical hernia, Pulmonic stenosis, Double ... OMIM:618164
Diabetic Embryopathy
Ventricular septal defect, Abnormal aortic morphology, Spinal dysraphism, Cleft palate, Abnormali... ORPHA:1926
Autosomal Dominant Cutis Laxa
Abnormal heart valve morphology, Umbilical hernia, Pulmonic stenosis, Bowel diverticulosis, Aorti... ORPHA:90348
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Catel-Manzke Syndrome
Ventricular septal defect, Camptodactyly, Coarctation of aorta, Umbilical hernia, Dextrocardia, C... OMIM:616145
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida, Anomalous pulmonary venous return, Atrial septal defect, Coarctation of aorta, Pate... ORPHA:1120
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Ventricular hypertrophy, Abnormal heart valve morphology, Ab... ORPHA:3400
Klippel-Trénaunay Syndrome
Hydrops fetalis, Prolonged bleeding time, Atrial septal defect, Gastrointestinal hemorrhage, Inte... ORPHA:90308
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Aortic regurgitation, Abnormal lef... ORPHA:229
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Middle cerebral artery stenosis, Abnormal left ventricular function, Patent... OMIM:132900
Arterial Tortuosity Syndrome
Hiatus hernia, Ventricular hypertrophy, Ischemic stroke, Aortic tortuosity, Aortic regurgitation,... OMIM:208050
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Phaver Syndrome
Camptodactyly of finger, Ventricular septal defect, Hypoplastic aortic arch, Intrauterine growth ... ORPHA:2876
Partial Atrioventricular Septal Defect
Atrial flutter, Patent ductus arteriosus, Coronary sinus enlargement, Double outlet right ventric... ORPHA:1330
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Persist... ORPHA:1209
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Abnormal aortic morphology, Cleft palate, Congenital diaphragmatic her... ORPHA:1166
Pagod Syndrome
Spina bifida, Arrhythmia, Situs inversus totalis, Abnormal aortic morphology, Pulmonary artery hy... ORPHA:991
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Aortic regurgita... OMIM:614980
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
EMG: myopathic abnormalities, Muscle fiber atrophy, Wrist drop, Decreased muscle mass, Mitral val... ORPHA:1900
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Ventricular septal defect, Abnormal aortic morphology, Cleft palate, Intraute... ORPHA:2516
Aortic Aneurysm, Familial Thoracic 9
Aortic tortuosity, High palate, Atrial fibrillation, Thoracic aortic aneurysm, Mitral valve prola... OMIM:616166
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Abnormal left ventricular function, Patent ductus arteriosus, Cardiomegaly, Aortic root aneurysm,... ORPHA:91387
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Abnormal aortic morphology, Arrhythmia, Hypertension ORPHA:3222
Periventricular Nodular Heterotopia
Aortic regurgitation, Periventricular heterotopia, Abnormal heart valve morphology, Patent ductus... ORPHA:98892
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Neonatal death, Patent ductus arteriosus, Coarctation of aorta OMIM:601612
8P23.1 Microdeletion Syndrome
Abnormal aortic morphology, Patent ductus arteriosus, Intrauterine growth retardation, Abnormal c... ORPHA:251071
Developmental Delay With Or Without Dysmorphic Facies And Autism
Coarctation of aorta, Patent ductus arteriosus, Umbilical hernia, Cleft palate, Polymicrogyria, C... OMIM:618454
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Bicuspid aortic valve, Transp... OMIM:612474
Fg Syndrome Type 1
Progressive flexion contractures, Atrial septal defect, High palate, Umbilical hernia, Anal atres... ORPHA:93932
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Dextrocardia, Left superior vena cava draining to cor... ORPHA:185
Hypermethioninemia Due To Adenosine Kinase Deficiency
Pulmonic stenosis, Atrial septal defect, Skeletal muscle atrophy, Coarctation of aorta OMIM:614300
Mosaic Trisomy 16
Meckel diverticulum, Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, ... ORPHA:1708
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Anomalous ... ORPHA:99050
16P13.11 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Double Outlet Right Ventricle
Truncus arteriosus, Ventricular septal defect, Intestinal malrotation, Pulmonic stenosis, Heart m... ORPHA:3426
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Coarctation of aor... ORPHA:284169
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Ventricular septal defect, Paroxysmal at... ORPHA:392
Osteopathia Striata-Cranial Sclerosis Syndrome
Cleft palate, Aortic valve stenosis, Facial palsy, Spina bifida occulta, Coarctation of aorta, Bi... ORPHA:2780
Transaldolase Deficiency
Biventricular hypertrophy, Atrial septal defect, Telangiectasia, Coarctation of aorta ORPHA:101028
2Q37 Microdeletion Syndrome
Abnormal aortic morphology, Pyloric stenosis, Umbilical hernia, Congenital diaphragmatic hernia ORPHA:1001
Holoprosencephaly
Median cleft lip and palate, Arrhythmia, Branchial anomaly, Ventricular septal defect, Hydrocepha... ORPHA:2162
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle... OMIM:619178
Cardiomyopathy, Dilated, 1S
Ventricular arrhythmia, Pulmonary artery hypoplasia, Tricuspid regurgitation, Bicuspid aortic val... OMIM:613426
Mental Retardation, Autosomal Dominant 21
Cleft palate, Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta OMIM:615502
Mucopolysaccharidosis Type 2
Macroglossia, Arrhythmia, Abnormal tricuspid valve morphology, Abnormal heart valve morphology, A... ORPHA:580
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Patent ductus arteriosus, Umbilical hernia, Aortic rupture, Skeletal muscle atrophy, Cleft soft p... OMIM:614557
Mullegama-Klein-Martinez Syndrome
Coarctation of aorta, Congenital diaphragmatic hernia, Hypoplastic left heart, Cleft palate, Abno... OMIM:301022
Fanconi Anemia
Abnormal carotid artery morphology, Patent ductus arteriosus, High palate, Duodenal stenosis, Hyd... ORPHA:84
Rin2 Syndrome
High palate, Aortic aneurysm, Umbilical hernia ORPHA:217335
Methimazole Embryofetopathy
Ventricular septal defect, Abnormal aortic morphology, Esophageal atresia, Coarctation of aorta, ... ORPHA:1923
Mucopolysaccharidosis Type 2, Severe Form
Camptodactyly of finger, Macroglossia, Arrhythmia, Abnormal tricuspid valve morphology, Abnormal ... ORPHA:217085
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Intracranial hemorrhage, Subarachnoid hemorrhage, Cerebral ... ORPHA:231160
Mucopolysaccharidosis Type 2, Attenuated Form
Camptodactyly of finger, Macroglossia, Arrhythmia, Abnormal tricuspid valve morphology, Abnormal ... ORPHA:217093
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Intermittent claudication, Renovascular hypertension, Myocardia... OMIM:135580
Lymphangiectasia, Pulmonary, Congenital
Polyhydramnios, Palpebral edema, Pleural effusion, Pedal edema, Bronchodysplasia, Facial edema, M... OMIM:265300
Aneurysm-Osteoarthritis Syndrome
Camptodactyly of finger, Arterial tortuosity, Aortic regurgitation, Abnormal heart morphology, Hi... ORPHA:284984
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal aortic morphology, Duode... ORPHA:3405
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Aortic aneurysm, Premature coronary artery atherosclerosis, Thoracic aortic ... OMIM:611788
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Abnormal aortic morphology, Patent ductus arteriosus, Bilateral cleft lip and palate, Intestinal ... ORPHA:2001
Autosomal Recessive Multiple Pterygium Syndrome
Camptodactyly of finger, Arthrogryposis multiplex congenita, High palate, Abnormal aortic valve m... ORPHA:2990
Opitz Gbbb Syndrome, Type Ii
Hiatus hernia, Diastasis recti, Atrial septal defect, Ventricular septal defect, Anal stenosis, P... OMIM:145410
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Arterial Tortuosity Syndrome
Hiatus hernia, Median cleft lip and palate, Abnormal carotid artery morphology, Aortic aneurysm, ... ORPHA:3342
Cleft Palate, Cardiac Defects, And Mental Retardation
Cleft palate, Ventricular septal defect, Atrial septal defect, Coarctation of aorta OMIM:600987
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Camptodactyly, Patent ductus arteriosus, Thoracic aortic aneurysm, Mitra... OMIM:613795
Loeys-Dietz Syndrome 2
Generalized arterial tortuosity, Camptodactyly, Patent ductus arteriosus, Dilatation of mesenteri... OMIM:610168
Marfan Syndrome
Aortic tortuosity, Mitral valve calcification, Dilatation of an abdominal artery, Arterial dissec... ORPHA:558
Homozygous Familial Hypercholesterolemia
Coronary artery aneurysm, Abnormal left ventricular function, Cerebral artery atherosclerosis, Pr... ORPHA:391665
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Atrial septal defect, Coarctation of aorta OMIM:614857
Hemifacial Microsomia
Hypoplasia of facial musculature, Branchial anomaly, Ventricular septal defect, Patent ductus art... OMIM:164210
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Periventricular heterotopia, Tricuspid regurgitation, Dextrocardia, Coarctation of aorta, Atriove... OMIM:618929
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... OMIM:618780
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Aortic dissection, Mucoid extracellular matrix accumulation, Aortic aneurysm, Myxomatous mitral v... OMIM:130090
Transaldolase Deficiency
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Intrauterine growth re... OMIM:606003
Distal 22Q11.2 Microdeletion Syndrome
Camptodactyly of finger, Ankyloglossia, Atrial septal defect, Truncus arteriosus, Aortic regurgit... ORPHA:261330
Lowry-Maclean Syndrome
Coarctation of aorta, Midgut malrotation, Intrauterine growth retardation, Congenital diaphragmat... ORPHA:2409
Septopreoptic Holoprosencephaly
Anteriorly placed anus, Perisylvian polymicrogyria, Coarctation of aorta ORPHA:280195
Jacobsen Syndrome
Spina bifida, Pachygyria, Ventricular septal defect, Intestinal malrotation, Ectopic anus, Aortic... ORPHA:2308
Opitz Gbbb Syndrome
Ankyloglossia, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Patent... ORPHA:2745
Buschke-Ollendorff Syndrome
Abnormal aortic morphology, Flexion contracture, Generalized limb muscle atrophy, Hypertension ORPHA:1306
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Aortopulm... OMIM:208530
Truncus Arteriosus
Abnormal coronary artery morphology, Abnormal heart valve physiology, Patent ductus arteriosus, C... ORPHA:3384
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Double outlet right ventricle, Coarct... OMIM:217095
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Atrial septal defect, Truncus arteriosus, Single v... OMIM:601186
Loeys-Dietz Syndrome 4
Arterial tortuosity, Aortic tortuosity, Mitral valve prolapse, High palate, Bicuspid aortic valve... OMIM:614816
Heart Defects, Congenital, And Other Congenital Anomalies
Patent ductus arteriosus, Intestinal malrotation, Microcolon, Pulmonary artery stenosis, Congenit... OMIM:600001
Congenital Aortic Valve Stenosis
Aortic valve atresia, Reduced ejection fraction, Endocarditis, Abnormal pulse pressure, Angina pe... ORPHA:3093
Pseudotrisomy 13 Syndrome
Median cleft lip and palate, Tricuspid atresia, Atrial septal defect, Ventricular septal defect, ... OMIM:264480
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Abnormal aortic arch morphology, Patent ductus arteriosus, In... ORPHA:2306
Aortic Aneurysm, Familial Thoracic 8
Coronary artery aneurysm, Coronary artery dissection, Descending aortic dissection, Ascending aor... OMIM:615436
Giant Cell Arteritis
Arrhythmia, Glossitis, Pericarditis, Aortic dissection, Epistaxis, Sudden cardiac death, Double o... ORPHA:397
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Misalignment of the pulmonary veins, Pulmonary insufficiency, Patent ductus arteriosus, Intestina... OMIM:265380
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Abnormal common carotid artery morphol... ORPHA:449400
Kyphoscoliotic Ehlers-Danlos Syndrome
Antenatal intracerebral hemorrhage, Subdural hemorrhage, Umbilical hernia, Dextrocardia, Bicuspid... ORPHA:536545
Fryns Syndrome
Abnormal aortic arch morphology, Abnormal aortic morphology, Intestinal malrotation, Aganglionic ... ORPHA:2059
Meckel Syndrome, Type 1
Large placenta, Patent ductus arteriosus, Intestinal malrotation, Vascular dilatation, Anencephal... OMIM:249000
Kleefstra Syndrome Due To 9Q34 Microdeletion
Macroglossia, Aortic regurgitation, Abnormal cardiac septum morphology, Protruding tongue, Aortic... ORPHA:96147
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida, Truncus arteriosus, Aortic regurgitation, Ventricular septal defect, Coarctation of... ORPHA:508498
Mosaic Variegated Aneuploidy Syndrome
Atrial septal defect, Aortic regurgitation, Colon cancer, Holoprosencephaly, Abnormal aortic morp... ORPHA:1052
Congenital Heart Defects And Skeletal Malformations Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly, Coarctation of aorta, Intestinal ... OMIM:617602
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Abnormal heart morphology, Camptodactyly, Vascular dilatation, Polymicrogyria, Aortic dissection,... OMIM:618343
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Spina bifida, Atrial septal defect, Shoulder muscle hypoplasia, Ventricular ... OMIM:274000
Autosomal Recessive Robinow Syndrome
Camptodactyly of finger, Ankyloglossia, Atrial septal defect, Abnormal tricuspid valve morphology... ORPHA:1507
Fanconi Anemia, Complementation Group B
Hydrocephalus, Ventricular septal defect, Patent ductus arteriosus, Esophageal atresia, Duodenal ... OMIM:300514
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Ventricular septal defect, Hypertension, Bicuspid aortic valve, Atrioventri... ORPHA:371428
Shprintzen-Goldberg Craniosynostosis Syndrome
Narrow palate, Hydrocephalus, Camptodactyly, High palate, Umbilical hernia, Joint contracture of ... OMIM:182212
Noonan Syndrome 2
Arthrogryposis multiplex congenita, Atrial septal defect, Abnormal coronary artery origin, Ventri... OMIM:605275
Floating-Harbor Syndrome
Atrial septal defect, Umbilical hernia, Mesocardia, Coarctation of aorta, Persistent left superio... OMIM:136140
Robinow Syndrome
Pulmonary valve atresia, Ankyloglossia, Tricuspid atresia, Atrial septal defect, Abnormal heart m... ORPHA:97360
Acrocardiofacial Syndrome
Camptodactyly of finger, Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Cle... ORPHA:2008
Noonan Syndrome 10
Atrial septal defect, Ventricular septal defect, High palate, Patent ductus arteriosus, Pulmonic ... OMIM:616564
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Type 1 muscle fiber atrophy, Macroglossia, Atrial septal defect, Branchial anomaly, Abnormal hear... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Type 1 muscle fiber atrophy, Macroglossia, Atrial septal defect, Branchial anomaly, Abnormal hear... ORPHA:352665
Hardikar Syndrome
Ventricular septal defect, Patent ductus arteriosus, Intestinal malrotation, Cleft palate, Pulmon... OMIM:612726
Kabuki Syndrome 2
Atrial septal defect, Intrauterine growth retardation, Pulmonic stenosis, Cleft palate, Coarctati... OMIM:300867
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta,... ORPHA:261183
22Q11.2 Deletion Syndrome
Patent ductus arteriosus, Intestinal malrotation, Corneal neovascularization, Hydrocephalus, Trun... ORPHA:567
Fontaine Progeroid Syndrome
Atrial septal defect, Hydrocephalus, Gray matter heterotopia, Periventricular heterotopia, Abnorm... OMIM:612289
Noonan Syndrome 9
Pulmonic stenosis, Ventricular septal defect, Coarctation of aorta OMIM:616559
Mosaic Variegated Aneuploidy Syndrome 2
Atrial septal defect, Aortic regurgitation, Ventricular septal defect, Severe intrauterine growth... OMIM:614114
Familial Bicuspid Aortic Valve
Abnormal left ventricular outflow tract morphology, Thoracic aorta calcification, Aortic regurgit... ORPHA:402075
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Congenital Contractural Arachnodactyly
Camptodactyly of finger, Arthrogryposis multiplex congenita, High palate, Flexion contracture, In... ORPHA:115
Sifrim-Hitz-Weiss Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Anter... OMIM:617159
Kleefstra Syndrome
Macroglossia, Arrhythmia, Ventricular septal defect, Coarctation of aorta, Pulmonary artery steno... ORPHA:261494
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Esophageal atresia, Double outlet right ven... ORPHA:2209
Mosaic Trisomy 1
Camptodactyly of finger, Ventricular septal defect, Coarctation of aorta, Cleft palate, Polymicro... ORPHA:1692
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Hamartoma of tongue, Coarcta... OMIM:217085
Cocaine Intoxication
Ventricular arrhythmia, Intestinal perforation, Ischemic stroke, Prolonged QRS complex, Supravent... ORPHA:90068
Meacham Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Situs inversus totalis, Ventricular sept... ORPHA:3097
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Interrupted aortic arch, Coarctation of aorta OMIM:107550
Osteogenesis Imperfecta
Aortic regurgitation, Mitral valve prolapse, Abnormal endocardium morphology, Hydrocephalus, Flex... ORPHA:666
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic... ORPHA:1455
Larsen Syndrome
Atrial septal defect, Ventricular septal defect, Spina bifida occulta, Cleft palate, Intrauterine... OMIM:150250
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Peripheral pulmonary a... OMIM:617506
Phace Association
Arterial stenosis, Ventricular septal defect, Patent ductus arteriosus, Vascular dilatation, Coar... OMIM:606519
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Patent ductus arteriosus, Mitral stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:617260
Vascular Ehlers-Danlos Syndrome
Arteriovenous fistula, Peripheral arteriovenous fistula, Arteriovenous fistulas of celiac and mes... ORPHA:286
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hamartomatous polyposis, Aortic aneurysm, Mitral valve prolapse, Hematochezia, Pulmonary arteriov... OMIM:175050
Encephalocraniocutaneous Lipomatosis
Interrupted aortic arch, Abnormal aortic morphology, Aortic valve stenosis, Tricuspid valve prola... ORPHA:2396
Aortic Valve Disease 2
Bicuspid aortic valve, Calcification of the aorta, Aortic aneurysm, Coarctation of aorta OMIM:614823
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased intramyocellular lipid droplets, Interrupted aortic arch, Increased variability in musc... ORPHA:17
Multisystemic Smooth Muscle Dysfunction Syndrome
Abnormal aortic morphology, Patent ductus arteriosus, Intestinal malrotation, Hypertension, Vascu... OMIM:613834
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Single ventricle, Patent ductus arteriosus, ... ORPHA:99125
Marfan Syndrome
Decreased muscle mass, Narrow palate, Aortic regurgitation, Mitral valve prolapse, Camptodactyly,... OMIM:154700
Distal Monosomy 15Q
Mitral atresia, Abnormal aortic arch morphology, Double outlet right ventricle with doubly commit... ORPHA:1596
Myhre Syndrome
Atrial septal defect, Ventricular septal defect, Skeletal muscle hypertrophy, Pericardial effusio... OMIM:139210
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Ventricular septal defect, Intestinal malrotation, Coarctation of aorta, Hi... OMIM:244450
8Q24.3 Microdeletion Syndrome
Truncus arteriosus, Gastrointestinal hemorrhage, Branchial cyst, Abnormal heart morphology, Compl... ORPHA:508488
Oculoectodermal Syndrome
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta, Transient ischemic attack, ... OMIM:600268
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Ventricular septal defect, Coarctation of aorta, Congenital diaphragmatic hernia, ... ORPHA:268249
Diamond-Blackfan Anemia 1
Atrial septal defect, Ventricular septal defect, Tricuspid stenosis, Cleft palate, Congestive hea... OMIM:105650
Phace Syndrome
Abnormal carotid artery morphology, Cerebral arteriovenous malformation, Abnormal heart morpholog... ORPHA:42775
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Shoulder flexion contracture, Atrial septal defect, Pachygyria, Stillbirth, Gray matter heterotop... OMIM:210710
Smith-Lemli-Opitz Syndrome
Atrial septal defect, Ventricular septal defect, Periventricular heterotopia, Holoprosencephaly, ... OMIM:270400
Alport Syndrome
Abnormal aortic morphology, Aortic aneurysm, Hypertension ORPHA:63
Loeys-Dietz Syndrome
Camptodactyly of finger, Arterial tortuosity, High palate, Patent ductus arteriosus, Vascular dil... ORPHA:60030
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Ventricular septal defect, Paten... OMIM:610338
Generalized Arterial Calcification Of Infancy
Abnormal retinal artery morphology, Calcification of the aorta, Ventricular hypertrophy, Left ven... ORPHA:51608
Meester-Loeys Syndrome
Camptodactyly, Flexion contracture, Pulmonary artery aneurysm, Dilatation of the cerebral artery,... OMIM:300989
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Rectoperineal fistula, Hypoplastic left heart, Coarctation of aorta, P... OMIM:618748
Congenital Tracheal Stenosis
Preductal coarctation of the aorta, Abnormal stomach morphology, Meckel diverticulum, Anomalous o... ORPHA:141127
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Cleft palate, Coarc... OMIM:600460
Pallister-Hall Syndrome
Atrial septal defect, Ventricular septal defect, Holoprosencephaly, Arrhinencephaly, Patent ductu... ORPHA:672
Esophageal Atresia
Esophagitis, Ventricular septal defect, Intestinal malrotation, Cleft palate, Duodenal atresia, C... ORPHA:1199
Kabuki Syndrome
Coarctation of aorta, Congenital diaphragmatic hernia, Cleft palate, High palate, Abnormal cardia... ORPHA:2322
17Q11 Microdeletion Syndrome
Gastrointestinal stroma tumor, Abnormal heart morphology, Renovascular hypertension, Cerebral art... ORPHA:97685
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Atrial septal defect, Narrow palate, Cardiac conduction abnormality, Abnormal heart morphology, V... ORPHA:353281
Schimmelpenning-Feuerstein-Mims Syndrome
Coarctation of aorta OMIM:163200
Pallister-Killian Syndrome
Macroglossia, Atrial septal defect, Stillbirth, Ventricular septal defect, Anal stenosis, Flexion... OMIM:601803
Turner Syndrome
Inflammation of the large intestine, Atrial septal defect, High palate, Hypertension, Arterial di... ORPHA:881
Turner Syndrome Due To Structural X Chromosome Anomalies
Inflammation of the large intestine, Atrial septal defect, High palate, Hypertension, Arterial di... ORPHA:99413
Mosaic Monosomy X
Inflammation of the large intestine, Atrial septal defect, High palate, Hypertension, Arterial di... ORPHA:99228
Monosomy X
Inflammation of the large intestine, Atrial septal defect, High palate, Hypertension, Arterial di... ORPHA:99226
Blackfan-Diamond Anemia
Atrial septal defect, Adenocarcinoma of the colon, Ventricular septal defect, Abnormal heart morp... ORPHA:124
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Ctcf-Related Neurodevelopmental Disorder
Pulmonary hemorrhage, Atrial septal defect, Patent ductus arteriosus, Joint contracture of the 5t... ORPHA:363611
Igg4-Related Kidney Disease
Abnormal aortic morphology, Sialadenitis, Arteritis, Pericarditis ORPHA:449395
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Atrial septal defect, Narrow palate, Cardiac conduction abnormality, Abnormal heart morphology, V... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Atrial septal defect, Narrow palate, Cardiac conduction abnormality, Abnormal heart morphology, V... ORPHA:353277
45,X/46,Xy Mixed Gonadal Dysgenesis
Azoospermia, Coarctation of aorta, Muscle hypertrophy of the lower extremities, Tachycardia, Prol... ORPHA:1772
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Atrioventricular canal defect, Patent ductus arteriosus, Coarctation of aorta OMIM:617088
Noonan Syndrome 1
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Cle... OMIM:163950
Alagille Syndrome 1
Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Coarctatio... OMIM:118450
Floating-Harbor Syndrome
Atrial septal defect, Mesocardia, Coarctation of aorta, Persistent left superior vena cava, Tetra... ORPHA:2044
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Periventricular heterotopia, Camptodactyly, Patent ductus arteriosus, Flexion contracture, Aortic... ORPHA:261552
Blomstrand Lethal Chondrodysplasia
Protruding tongue, Coarctation of aorta ORPHA:50945
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Periventricular heterotopia, Abnormal heart morphology, Pulmonary artery sling, Camptodactyly, Fl... ORPHA:261537
Mowat-Wilson Syndrome
Periventricular heterotopia, Abnormal heart morphology, Pulmonary artery sling, Camptodactyly, Fl... ORPHA:2152
Kabuki Syndrome 1
Atrial septal defect, Ventricular septal defect, Anal stenosis, Anoperineal fistula, Intestinal m... OMIM:147920
Visceral Steatosis, Congenital
Neonatal death, Myocardial steatosis 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

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
Ptk2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Ptk2tm1a(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