Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
PAX interacting (with transcription-activation domain) protein 1
Synonyms:
D5Ertd149e,  PTIP

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 Paxip1 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 Paxip1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Peripheral Cone Dystrophy
Pallor OMIM:609021
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
Congenital Heart Block
Intrauterine growth retardation, Endocardial fibroelastosis, Pallor, Patent foramen ovale, Perica... ORPHA:60041
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... ORPHA:1455
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Dermatitis, Atopic
Dry skin, Facial erythema, Pallor OMIM:603165
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hypertrophic cardiomyopathy, Growth delay, Pallor OMIM:613561
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Thiamine-Responsive Megaloblastic Anemia Syndrome
Short stature, Pallor, Atrial septal defect, Ventricular septal defect ORPHA:49827
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... ORPHA:860
Cyclic Vomiting Syndrome
Cardiomyopathy, Growth delay, Pallor OMIM:500007
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Breath-Holding Spells
Pallor OMIM:607578
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus OMIM:604381
Optic Atrophy 1
Pallor OMIM:165500
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Hemoglobin D Disease
Pallor ORPHA:90039
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... OMIM:618300
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Stroke, Persistent ... ORPHA:1457
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Xeroderma Pigmentosum, Complementation Group F
Defective DNA repair after ultraviolet radiation damage, Deficient excision of UV-induced pyrimid... OMIM:278760
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic... ORPHA:2248
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Anemia, Congenital Dyserythropoietic, Type Ib
Short stature, Growth delay, Pallor OMIM:615631
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Pallor ORPHA:276556
Rheumatic Fever
Erythema, Abnormal heart valve morphology, Pallor, Abnormal aortic valve morphology, Abnormal mit... ORPHA:3099
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Pallor ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Pallor ORPHA:276580
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Pallor, Patent foramen ovale, Ventricular septal defect, Atrial ... OMIM:609053
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... OMIM:613854
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Beta-Thalassemia
Hypertrophic cardiomyopathy, Pallor, Skin ulcer ORPHA:848
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... OMIM:616749
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aor... ORPHA:99050
Heterotaxy, Visceral, 4, Autosomal
Common atrium, Total anomalous pulmonary venous return, Bilateral superior vena cava, Atrioventri... OMIM:613751
Retinitis Pigmentosa 51
Pallor OMIM:613464
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Hb Bart'S Hydrops Fetalis
Pallor, Pericarditis ORPHA:163596
Fanconi Anemia, Complementation Group E
Abnormal heart morphology, Prolonged G2 phase of cell cycle, Deficient excision of UV-induced pyr... OMIM:600901
Evans Syndrome
Pallor, Petechiae ORPHA:1959
Trichothiodystrophy
Cardiomyopathy, Umbilical hernia, Intrauterine growth retardation, Ventricular septal defect, Def... ORPHA:33364
Fanconi Anemia, Complementation Group A
Abnormal heart morphology, Prolonged G2 phase of cell cycle, Deficient excision of UV-induced pyr... OMIM:227650
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Short stature, Pallor OMIM:611590
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Dravet Syndrome
Pallor ORPHA:33069
Fanconi Anemia, Complementation Group C
Deficient excision of UV-induced pyrimidine dimers in DNA, Intrauterine growth retardation, Ventr... OMIM:227645
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Delayed puberty, Pallor, Growth delay OMIM:600462
Fanconi Anemia, Complementation Group D2
Deficient excision of UV-induced pyrimidine dimers in DNA, Abnormal heart morphology, Prolonged G... OMIM:227646
Primary Myelofibrosis
Purpura, Petechiae, Pallor, Ecchymosis ORPHA:824
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At... ORPHA:3384
Genitopalatocardiac Syndrome
Ventricular septal defect, Right aortic arch, Double outlet right ventricle, Transposition of the... OMIM:231060
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Hypoplastic left heart, Unbalanced atrioventricular canal def... OMIM:617205
American Trypanosomiasis
Myocarditis, Pallor, Cardiomyopathy ORPHA:3386
Pyruvate Kinase Deficiency Of Red Cells
Intrauterine growth retardation, Pallor OMIM:266200
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Pallor ORPHA:99931
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Abnormal aortic arch morphology, Aortic valve stenosis, Abnor... ORPHA:2306
Meacham Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Scimitar anomaly, Right aortic arch, Neonatal death,... OMIM:608978
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Pallor ORPHA:439218
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Anemia, Hypochromic Microcytic, With Iron Overload 2
Growth delay, Pallor OMIM:615234
Irida Syndrome
Pallor ORPHA:209981
Phaver Syndrome
Myelomeningocele, Intrauterine growth retardation, Ventricular septal defect, Coarctation of aort... ORPHA:2876
Deafness-Lymphedema-Leukemia Syndrome
Pallor ORPHA:3226
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Igg4-Related Aortitis
Abnormal aortic arch morphology, Aortic dissection, Abnormal common carotid artery morphology, Th... ORPHA:449400
Cold Agglutinin Disease
Pallor ORPHA:56425
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Left superior vena cava draining to coronary sinus, Atrial septal defe... OMIM:306955
Tetrasomy 15Q26
Intrauterine growth retardation, Hypoplastic aortic arch, Patent ductus arteriosus, Atrial septal... OMIM:614846
Hereditary Spherocytosis
Restrictive cardiomyopathy, Growth delay, Skin ulcer, Pallor ORPHA:822
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Ventricular septal defect, Overriding aorta, Atrial septal defect, Patent ductus arteriosus, Vasc... OMIM:601927
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Short stature, Intrauterine growth retardation, Pallor OMIM:301310
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Myopathy, Mitochondrial, And Ataxia
Short stature, Growth delay, Pallor OMIM:617675
Myelofibrosis
Purpura, Pallor OMIM:254450
Congenital Dyserythropoietic Anemia Type Iii
Short stature, Pallor ORPHA:98870
Retinitis Pigmentosa 75
Pallor OMIM:617023
Xeroderma Pigmentosum, Complementation Group E
Defective DNA repair after ultraviolet radiation damage OMIM:278740
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Skin ulcer, Pallor, Delayed puberty, Growth delay ORPHA:231226
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Xfe Progeroid Syndrome
Defective DNA repair after ultraviolet radiation damage OMIM:610965
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage OMIM:278720
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Intrauterine growth retardation, Overriding aorta, Arteriovenous... ORPHA:1110
Tay-Sachs Disease
Pallor OMIM:272800
Xeroderma Pigmentosum, Complementation Group A
Defective DNA repair after ultraviolet radiation damage OMIM:278700
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Xeroderma Pigmentosum, Complementation Group D
Defective DNA repair after ultraviolet radiation damage OMIM:278730
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Truncus arteriosus, Ventricular ... OMIM:617478
Beta-Thalassemia Major
Dilated cardiomyopathy, Skin ulcer, Pallor, Delayed puberty, Growth delay ORPHA:231214
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Cardiac-Urogenital Syndrome
Interrupted aortic arch, Hypoplastic left heart, Coronary sinus enlargement, Tetralogy of Fallot,... OMIM:618280
Fliedner-Zweier Syndrome
Bicuspid aortic valve, Meningocele, Hypoplastic aortic arch, Ventricular septal defect OMIM:620511
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Growth delay, Pallor ORPHA:300298
Senior-Loken Syndrome 8
Pallor OMIM:616307
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Umbilical... OMIM:600001
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Sepsis In Premature Infants
Purpura, Petechiae, Pallor ORPHA:90051
Childhood Absence Epilepsy
Pallor ORPHA:64280
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Elliptocytosis 1
Pallor OMIM:611804
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
De Sanctis-Cacchione Syndrome
Defective DNA repair after ultraviolet radiation damage OMIM:278800
Diamond-Blackfan Anemia 1
Intrauterine growth retardation, Pallor, Ventricular septal defect, Atrial septal defect, Short s... OMIM:105650
Hereditary Folate Malabsorption
Pallor ORPHA:90045
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Pallor ORPHA:20
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Letterer-Siwe Disease
Pallor OMIM:246400
Beta-Ketothiolase Deficiency
Pallor ORPHA:134
Waldenström Macroglobulinemia
Purpura, Pallor ORPHA:33226
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Velocardiofacial Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Umbilical hernia, Tetralo... OMIM:192430
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Neonatal death, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pulmonary... OMIM:265380
Fumarase Deficiency
Perimembranous ventricular septal defect, Pallor OMIM:606812
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Arteria lusoria, Valvular p... OMIM:212093
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Distal Triplication 15Q
Abnormal heart morphology, Intrauterine growth retardation, Atrial septal defect, Hypoplastic aor... ORPHA:314588
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Hypoplastic tricuspid valve, Congenital defect of the pericardium, Umbil... ORPHA:2255
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Right aortic arch, Patent foramen ovale, Cardiomegaly, Persistent left su... OMIM:620642
Adenohypophysitis
Pallor ORPHA:95512
Prolactinoma
Delayed puberty, Pallor ORPHA:2965
Panhypophysitis
Pallor ORPHA:95513
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... ORPHA:216694
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Tetralogy of Fallot, Abnormal inferior vena cava morphology,... ORPHA:980
Aregenerative Anemia
Pallor ORPHA:101096
Incontinentia Pigmenti
Short stature, Erythema, Pallor OMIM:308300
Alternating Hemiplegia Of Childhood
Pallor, Cardiomyopathy ORPHA:2131
Sheehan Syndrome
Dry skin, Pallor ORPHA:91355
De Barsy Syndrome
Prominent veins on trunk, Umbilical hernia, Intrauterine growth retardation, Ventricular septal d... ORPHA:2962
Pituitary Apoplexy
Pallor ORPHA:95613
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Esophageal Atresia
Tetralogy of Fallot, Growth delay, Pallor, Ventricular septal defect ORPHA:1199
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Degcags Syndrome
Intrauterine growth retardation, Pallor, Patent foramen ovale, Ventricular septal defect, Dysplas... OMIM:619488
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor ORPHA:98849
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Diamond-Blackfan Anemia
Abnormal heart morphology, Pallor, Ventricular septal defect, Atrial septal defect, Short stature... ORPHA:124
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor, Growth delay ORPHA:329971
Histiocytoid Cardiomyopathy
Cardiomegaly, Pallor, Ventricular septal defect ORPHA:137675
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Pallor OMIM:277400
Distal Deletion 15Q
Hypoplastic left heart, Abnormal aortic arch morphology, Double outlet right ventricle with doubl... ORPHA:1596
Congenital Tracheomalacia
Abnormal pulmonary artery morphology, Tetralogy of Fallot, Abnormal heart morphology, Right aorti... ORPHA:95430
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Pallor, Myocardial eosinophilic infiltration ORPHA:3260
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Peripheral pulmonary artery stenosis, Aortic root aneurysm, Hypertrophic cardiomyopathy, Patent f... OMIM:617506
Pearson Marrow-Pancreas Syndrome
Erythema, Pallor OMIM:557000
20Q13.33 Microdeletion Syndrome
Abnormal cardiac ventricle morphology, Hypoplastic aortic arch, Dilation of Virchow-Robin spaces,... ORPHA:261311
Tsh-Secreting Pituitary Adenoma
Pericardial effusion, Delayed puberty, Pallor ORPHA:91347
Autosomal Recessive Malignant Osteopetrosis
Growth delay, Abnormal pulmonary valve morphology, Pallor ORPHA:667
Fryns Syndrome
Tetralogy of Fallot, Abnormal aortic arch morphology, Abnormal aortic morphology, Abnormal cardia... ORPHA:2059
Neuroblastoma
Anemic pallor ORPHA:635
Von Hippel-Lindau Disease
Myocarditis, Pallor, Cardiomyopathy ORPHA:892
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Pallor ORPHA:544482
22Q11.2 Deletion Syndrome
Abnormal aortic arch morphology, Umbilical hernia, Tetralogy of Fallot, Retinal arteriolar tortuo... ORPHA:567
Multiple Endocrine Neoplasia Type 2
Pallor ORPHA:653
Viss Syndrome
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Mitral valve prolapse, V... OMIM:619472
Microphthalmia, Syndromic 2
Aortic valve stenosis, Umbilical hernia, Mitral valve prolapse, Ventricular septal defect, Double... OMIM:300166
8Q24.3 Microdeletion Syndrome
Branchial cyst, Abnormal heart morphology, Atrioventricular canal defect, Intrauterine growth ret... ORPHA:508488
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal aortic arch morphology, Spinal dysraphism, Hypertrophic cardiomyopathy, Intrauterine gro... ORPHA:96334
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Cardiospondylocarpofacial Syndrome
Muscular ventricular septal defect, Patent foramen ovale, Dysplastic tricuspid valve, Ventricular... OMIM:157800
Goodpasture Syndrome
Pallor OMIM:233450
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypoplastic left heart, Mitral atresia, Muscular ventricular septal defect, Ischemic stroke, Vent... OMIM:619503
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplastic aortic arch ORPHA:457284

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 Paxip1

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 Paxip1.

No publications found that use IMPC mice or data for Paxip1.

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.

MGI Allele Allele Type Produced
Paxip1em1(IMPC)Ccpcz Exon Deletion Mice
Paxip1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Paxip1tm96474(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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