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Gene: Paxip1 MGI:1890430

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
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
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Autosomal Dominant Coarctation Of Aorta
Patent ductus arteriosus, Aortic arch aneurysm, Ventricular septal defect, Abnormal aortic arch m... ORPHA:1455
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Optic Atrophy 1
Pallor OMIM:165500
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hypertrophic cardiomyopathy, Growth delay, Pallor OMIM:613561
Dermatitis, Atopic
Facial erythema, Dry skin, Pallor OMIM:603165
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta ORPHA:228190
Retinitis Pigmentosa 27
Pallor OMIM:613750
Aorta Coarctation
Patent ductus arteriosus, Aortic valve atresia, Perimembranous ventricular septal defect, Interru... ORPHA:1457
Congenitally Uncorrected Transposition Of The Great Arteries
Patent ductus arteriosus, Levotransposition of the great arteries, Ventricular septal defect, Abn... ORPHA:860
Thiamine-Responsive Megaloblastic Anemia Syndrome
Short stature, Ventricular septal defect, Atrial septal defect, Pallor ORPHA:49827
Cyclic Vomiting Syndrome
Pallor, Growth delay, Cardiomyopathy OMIM:500007
Breath-Holding Spells
Pallor OMIM:607578
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta OMIM:604381
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Hemoglobin D Disease
Pallor ORPHA:90039
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic left... ORPHA:2248
Anemia, Congenital Dyserythropoietic, Type Ib
Growth delay, Short stature, Pallor OMIM:615631
Ciliary Dyskinesia, Primary, 40
Patent ductus arteriosus, Congenitally corrected transposition of the great arteries, Atrioventri... OMIM:618300
Xeroderma Pigmentosum, Complementation Group F
Defective DNA repair after ultraviolet radiation damage, Deficient excision of UV-induced pyrimid... OMIM:278760
Rheumatic Fever
Endocarditis, Abnormal mitral valve morphology, Abnormal aortic valve morphology, Pallor, Pericar... ORPHA:3099
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Pallor ORPHA:276556
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Heterotaxy, Visceral, 12, Autosomal
Double outlet right ventricle, Patent foramen ovale, Ventricular septal defect, Left superior ven... OMIM:619702
Fanconi Anemia, Complementation Group I
Patent foramen ovale, Ventricular septal defect, Short stature, Atrial septal defect, Pallor, Int... OMIM:609053
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
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Hypoplastic pulmonary veins, Ventricular septal defect, Secundum a... OMIM:613854
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Patent ductus arteriosus, Anomalous origin of left pulmonary artery from ascending aorta, Aortopu... ORPHA:99050
Heterotaxy, Visceral, 7, Autosomal
Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Common atrium,... OMIM:616749
Beta-Thalassemia
Hypertrophic cardiomyopathy, Skin ulcer, Pallor ORPHA:848
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Ventricular septal defect, Common atrium, Transposition of the gre... OMIM:613751
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia... OMIM:618780
Retinitis Pigmentosa 51
Pallor OMIM:613464
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Hb Bart'S Hydrops Fetalis
Pericarditis, Pallor ORPHA:163596
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Short stature, Pallor OMIM:611590
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Truncus Arteriosus
Truncus arteriosus, Pulmonary artery stenosis, Ventricular septal defect, Interrupted aortic arch... ORPHA:3384
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... OMIM:614779
Evans Syndrome
Petechiae, Pallor ORPHA:1959
Leishmaniasis
Skin ulcer, Pallor ORPHA:507
Trichothiodystrophy
Ventricular septal defect, Defective DNA repair after ultraviolet radiation damage, Intrauterine ... ORPHA:33364
Genitopalatocardiac Syndrome
Double outlet right ventricle, Transposition of the great arteries, Right aortic arch, Ventricula... OMIM:231060
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Delayed puberty, Growth delay, Pallor OMIM:600462
Dravet Syndrome
Pallor ORPHA:33069
American Trypanosomiasis
Pallor, Myocarditis, Cardiomyopathy ORPHA:3386
Pyruvate Kinase Deficiency Of Red Cells
Intrauterine growth retardation, Pallor OMIM:266200
Meacham Syndrome
Patent ductus arteriosus, Cardiac total anomalous pulmonary venous connection, Ventricular septal... OMIM:608978
Anemia, Hypochromic Microcytic, With Iron Overload 2
Growth delay, Pallor OMIM:615234
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... OMIM:617205
Primary Myelofibrosis
Ecchymosis, Purpura, Petechiae, Pallor ORPHA:824
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Pallor ORPHA:99931
Fanconi Anemia, Complementation Group E
Prolonged G2 phase of cell cycle, Deficient excision of UV-induced pyrimidine dimers in DNA, Abno... OMIM:600901
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Pallor ORPHA:439218
Fanconi Anemia, Complementation Group A
Prolonged G2 phase of cell cycle, Deficient excision of UV-induced pyrimidine dimers in DNA, Abno... OMIM:227650
Fanconi Anemia, Complementation Group D2
Patent ductus arteriosus, Prolonged G2 phase of cell cycle, Deficient excision of UV-induced pyri... OMIM:227646
Fanconi Anemia, Complementation Group C
Prolonged G2 phase of cell cycle, Deficient excision of UV-induced pyrimidine dimers in DNA, Intr... OMIM:227645
Myelofibrosis
Purpura, Pallor OMIM:254450
Phaver Syndrome
Myelomeningocele, Ventricular septal defect, Coarctation of aorta, Hypoplastic aortic arch, Pulmo... ORPHA:2876
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Irida Syndrome
Pallor ORPHA:209981
Isotretinoin-Like Syndrome
Patent ductus arteriosus, Conotruncal defect, Abnormal cardiac atrium morphology, Bicuspid aortic... ORPHA:2306
Deafness-Lymphedema-Leukemia Syndrome
Pallor ORPHA:3226
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Igg4-Related Aortitis
Ascending tubular aorta aneurysm, Abnormal common carotid artery morphology, Dilated left subclav... ORPHA:449400
Cold Agglutinin Disease
Pallor ORPHA:56425
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Hereditary Spherocytosis
Restrictive cardiomyopathy, Skin ulcer, Growth delay, Pallor ORPHA:822
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Atrioventricular canal defect, Right atrial isomerism, Double outlet... OMIM:306955
Autoimmune Hemolytic Anemia
Pallor ORPHA:98375
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Patent ductus arteriosus, Ventricular septal defect, Vascular ring, Atrial septal defect, Overrid... OMIM:601927
Myopathy, Mitochondrial, And Ataxia
Growth delay, Short stature, Pallor OMIM:617675
Retinitis Pigmentosa 75
Pallor OMIM:617023
Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Congenital Dyserythropoietic Anemia Type Iii
Short stature, Pallor ORPHA:98870
Dominant Beta-Thalassemia
Skin ulcer, Dilated cardiomyopathy, Pallor, Delayed puberty, Growth delay ORPHA:231226
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Overriding aorta, Intrauterine growth retardation, Abnormal aortic ar... ORPHA:1110
Structural Heart Defects And Renal Anomalies Syndrome
Truncus arteriosus, Ventricular septal defect, Interrupted aortic arch, Atrial septal defect, Per... OMIM:617478
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Tay-Sachs Disease
Pallor OMIM:272800
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Beta-Thalassemia Major
Skin ulcer, Dilated cardiomyopathy, Pallor, Delayed puberty, Growth delay ORPHA:231214
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Growth delay, Pallor ORPHA:300298
Senior-Loken Syndrome 8
Pallor OMIM:616307
Elliptocytosis 1
Pallor OMIM:611804
Beta-Thalassemia Intermedia
Skin ulcer, Pallor ORPHA:231222
Xeroderma Pigmentosum, Complementation Group E
Defective DNA repair after ultraviolet radiation damage OMIM:278740
Heart Defects, Congenital, And Other Congenital Anomalies
Patent ductus arteriosus, Patent foramen ovale, Truncus arteriosus, Ventricular septal defect, Pe... OMIM:600001
Xfe Progeroid Syndrome
Defective DNA repair after ultraviolet radiation damage OMIM:610965
Sepsis In Premature Infants
Purpura, Petechiae, Pallor ORPHA:90051
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage OMIM:278720
Fumarase Deficiency
Pallor OMIM:606812
Diamond-Blackfan Anemia 1
Ventricular septal defect, Short stature, Atrial septal defect, Pallor, Tricuspid stenosis, Intra... OMIM:105650
Childhood Absence Epilepsy
Pallor ORPHA:64280
Letterer-Siwe Disease
Pallor OMIM:246400
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Pulmonary artery dilatation, Pulmonary artery stenosis, Misalignme... OMIM:265380
Cardiac-Urogenital Syndrome
Patent ductus arteriosus, Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlar... OMIM:618280
Xeroderma Pigmentosum, Complementation Group A
Defective DNA repair after ultraviolet radiation damage OMIM:278700
Rare Circulatory System Disease
Pallor ORPHA:98028
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Pallor ORPHA:20
Xeroderma Pigmentosum, Complementation Group D
Defective DNA repair after ultraviolet radiation damage OMIM:278730
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Velocardiofacial Syndrome
Ventricular septal defect, Interrupted aortic arch, Double aortic arch, Pulmonary artery atresia,... OMIM:192430
Beta-Ketothiolase Deficiency
Pallor ORPHA:134
Waldenström Macroglobulinemia
Purpura, Pallor ORPHA:33226
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Prolactinoma
Delayed puberty, Pallor ORPHA:2965
Distal Tetrasomy 15Q
Patent ductus arteriosus, Atrial septal defect, Hypoplastic aortic arch, Abnormal heart morpholog... ORPHA:314588
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Interrupted aortic arc... ORPHA:2255
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Cardiac Valvular Dysplasia 1
Patent foramen ovale, Left aortic arch with cervical origin of the right subclavian artery, Ventr... OMIM:212093
De Sanctis-Cacchione Syndrome
Defective DNA repair after ultraviolet radiation damage OMIM:278800
Adenohypophysitis
Pallor ORPHA:95512
Absence Of The Pulmonary Artery
Patent ductus arteriosus, Patent foramen ovale, Cardiomegaly, Truncus arteriosus, Abnormal cardia... ORPHA:980
Aregenerative Anemia
Pallor ORPHA:101096
Incontinentia Pigmenti
Short stature, Erythema, Pallor OMIM:308300
Pituitary Apoplexy
Pallor ORPHA:95613
Panhypophysitis
Pallor ORPHA:95513
Sheehan Syndrome
Dry skin, Pallor ORPHA:91355
Congenitally Corrected Transposition Of The Great Arteries
Bilateral superior vena cava with bridging vein, Abnormal left ventricular outflow tract morpholo... ORPHA:216694
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor ORPHA:98849
Alternating Hemiplegia Of Childhood
Pallor, Cardiomyopathy ORPHA:2131
De Barsy Syndrome
Patent ductus arteriosus, Ventricular septal defect, Hypoplastic aortic arch, Persistent left sup... ORPHA:2962
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Esophageal Atresia
Growth delay, Tetralogy of Fallot, Ventricular septal defect, Pallor ORPHA:1199
Degcags Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Pulmonic stenosis, Atr... OMIM:619488
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor, Growth delay ORPHA:329971
Histiocytoid Cardiomyopathy
Cardiomegaly, Ventricular septal defect, Pallor ORPHA:137675
Blackfan-Diamond Anemia
Ventricular septal defect, Short stature, Atrial septal defect, Pallor, Abnormal heart morphology... ORPHA:124
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Congenital Total Pulmonary Venous Return Anomaly
Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Ventricular septal defec... ORPHA:99125
Congenital Tracheomalacia
Patent ductus arteriosus, Cardiomegaly, Ventricular septal defect, Single ventricle, Atrial septa... ORPHA:95430
Idiopathic Hypereosinophilic Syndrome
Myocardial eosinophilic infiltration, Dilated cardiomyopathy, Pallor ORPHA:3260
Distal Monosomy 15Q
Patent ductus arteriosus, Mitral atresia, Double outlet right ventricle with doubly committed ven... ORPHA:1596
20Q13.33 Microdeletion Syndrome
Abnormal cardiac ventricle morphology, Hypoplastic aortic arch, Atrial septal defect, Dilation of... ORPHA:261311
Pearson Marrow-Pancreas Syndrome
Erythema, Pallor OMIM:557000
Tsh-Secreting Pituitary Adenoma
Pericardial effusion, Delayed puberty, Pallor ORPHA:91347
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Patent ductus arteriosus, Aortic root aneurysm, Patent foramen ovale, Ventricular septal defect, ... OMIM:617506
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Growth delay, Pallor ORPHA:667
22Q11.2 Deletion Syndrome
Meningocele, Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Spina bifid... ORPHA:567
Fryns Syndrome
Abnormal aortic morphology, Tetralogy of Fallot, Abnormal cardiac septum morphology, Abnormal aor... ORPHA:2059
Von Hippel-Lindau Disease
Pallor, Myocarditis, Cardiomyopathy ORPHA:892
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Pallor ORPHA:544482
Multiple Endocrine Neoplasia Type 2
Pallor ORPHA:653
Viss Syndrome
Aortic tortuosity, Ascending tubular aorta aneurysm, Carotid artery dilatation, Aortic root aneur... OMIM:619472
Microphthalmia, Syndromic 2
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Mitral valve ... OMIM:300166
8Q24.3 Microdeletion Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Truncus arteriosus, Ventricular septal d... ORPHA:508488
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Spinal dysraphism, Ventricular septal defect, Atrial septal defect, Abnormal aortic arch morpholo... ORPHA:96334
Cardiospondylocarpofacial Syndrome
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Dysplastic tricuspid valve... OMIM:157800
Goodpasture Syndrome
Pallor OMIM:233450
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Subvalvular aortic stenosis, Double outlet right ventricle, Mitral atresia, 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.

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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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