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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
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
Pericardial effusion, Patent ductus arteriosus, Pallor, Endocardial fibroelastosis, Intrauterine ... ORPHA:60041
Optic Atrophy 1
Pallor OMIM:165500
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Growth delay, Hypertrophic cardiomyopathy, Pallor OMIM:613561
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta ORPHA:228190
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp... ORPHA:860
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Ventricular septal defect, Pallor, Short stature ORPHA:49827
Cyclic Vomiting Syndrome
Growth delay, Cardiomyopathy, 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
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
Xeroderma Pigmentosum, Complementation Group F
Deficient excision of UV-induced pyrimidine dimers in DNA, Defective DNA repair after ultraviolet... OMIM:278760
Hemoglobin D Disease
Pallor ORPHA:90039
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... OMIM:618300
Anemia, Congenital Dyserythropoietic, Type Ib
Growth delay, Short stature, Pallor OMIM:615631
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Pallor ORPHA:276556
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Rheumatic Fever
Pericarditis, Abnormal heart valve morphology, Myocarditis, Erythema, Endocarditis, Abnormal aort... ORPHA:3099
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Pallor ORPHA:276575
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Short stature, Pallor, Atrial septal defect, Intrauterine growth retar... OMIM:609053
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Pallor ORPHA:276580
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho... ORPHA:99050
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Beta-Thalassemia
Hypertrophic cardiomyopathy, Pallor, Skin ulcer ORPHA:848
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Retinitis Pigmentosa 51
Pallor OMIM:613464
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA, Prolonged G2 phase of cell cycle, Chro... OMIM:600901
Hb Bart'S Hydrops Fetalis
Pericarditis, Pallor ORPHA:163596
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Fanconi Anemia, Complementation Group A
Deficient excision of UV-induced pyrimidine dimers in DNA, Prolonged G2 phase of cell cycle, Chro... OMIM:227650
Trichothiodystrophy
Ventricular septal defect, Defective DNA repair after ultraviolet radiation damage, Cardiomyopath... ORPHA:33364
Fanconi Anemia, Complementation Group C
Ventricular septal defect, Prolonged G2 phase of cell cycle, Deficient excision of UV-induced pyr... OMIM:227645
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Short stature, Pallor OMIM:611590
Evans Syndrome
Pallor, Petechiae ORPHA:1959
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Fanconi Anemia, Complementation Group D2
Patent ductus arteriosus, Prolonged G2 phase of cell cycle, Abnormal heart morphology, Deficient ... OMIM:227646
Dravet Syndrome
Pallor ORPHA:33069
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Growth delay, Pallor, Delayed puberty OMIM:600462
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... OMIM:231060
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Anemia, Hypochromic Microcytic, With Iron Overload 2
Growth delay, Pallor OMIM:615234
Primary Myelofibrosis
Ecchymosis, Pallor, Petechiae, Purpura ORPHA:824
Pyruvate Kinase Deficiency Of Red Cells
Intrauterine growth retardation, Pallor OMIM:266200
American Trypanosomiasis
Myocarditis, Cardiomyopathy, Pallor ORPHA:3386
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Meacham Syndrome
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent duct... OMIM:608978
Idiopathic Pulmonary Hemosiderosis
Pallor, Cardiomegaly ORPHA:99931
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Irida Syndrome
Pallor ORPHA:209981
Myelofibrosis
Pallor, Purpura OMIM:254450
Phaver Syndrome
Ventricular septal defect, Myelomeningocele, Hypoplastic aortic arch, Coarctation of aorta, Pulmo... ORPHA:2876
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Abnormal ... ORPHA:2306
Deafness-Lymphedema-Leukemia Syndrome
Pallor ORPHA:3226
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Tetrasomy 15Q26
Atrial septal defect, Intrauterine growth retardation, Patent ductus arteriosus, Hypoplastic aort... OMIM:614846
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... ORPHA:449400
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Hereditary Spherocytosis
Growth delay, Restrictive cardiomyopathy, Pallor, Skin ulcer ORPHA:822
Cold Agglutinin Disease
Pallor ORPHA:56425
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... OMIM:601927
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Myopathy, Mitochondrial, And Ataxia
Growth delay, Short stature, Pallor OMIM:617675
Xeroderma Pigmentosum, Complementation Group E
Defective DNA repair after ultraviolet radiation damage OMIM:278740
Retinitis Pigmentosa 75
Pallor OMIM:617023
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Skin ulcer, Growth delay, Pallor, Delayed puberty ORPHA:231226
Congenital Dyserythropoietic Anemia Type Iii
Short stature, Pallor ORPHA:98870
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
Intrauterine growth retardation, Overriding aorta, Arteriovenous malformation, Abnormal aortic ar... ORPHA:1110
Xfe Progeroid Syndrome
Defective DNA repair after ultraviolet radiation damage OMIM:610965
Xeroderma Pigmentosum, Complementation Group A
Defective DNA repair after ultraviolet radiation damage OMIM:278700
Tay-Sachs Disease
Pallor OMIM:272800
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... OMIM:617478
Xeroderma Pigmentosum, Complementation Group D
Defective DNA repair after ultraviolet radiation damage OMIM:278730
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Beta-Thalassemia Major
Dilated cardiomyopathy, Skin ulcer, Growth delay, Pallor, Delayed puberty ORPHA:231214
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Growth delay, Pallor ORPHA:300298
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Patent duct... OMIM:600001
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Peri... OMIM:618280
Senior-Loken Syndrome 8
Pallor OMIM:616307
Elliptocytosis 1
Pallor OMIM:611804
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Childhood Absence Epilepsy
Pallor ORPHA:64280
Sepsis In Premature Infants
Pallor, Petechiae, Purpura ORPHA:90051
Diamond-Blackfan Anemia 1
Ventricular septal defect, Tricuspid stenosis, Short stature, Pallor, Atrial septal defect, Intra... OMIM:105650
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
De Sanctis-Cacchione Syndrome
Defective DNA repair after ultraviolet radiation damage OMIM:278800
Letterer-Siwe Disease
Pallor OMIM:246400
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Pallor ORPHA:20
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Neonatal death, Atrioventric... OMIM:265380
Velocardiofacial Syndrome
Ventricular septal defect, Interrupted aortic arch, Pulmonary artery atresia, Umbilical hernia, T... OMIM:192430
Beta-Ketothiolase Deficiency
Pallor ORPHA:134
Waldenström Macroglobulinemia
Pallor, Purpura ORPHA:33226
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Patent duct... ORPHA:2255
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Distal Triplication 15Q
Patent ductus arteriosus, Hypoplastic aortic arch, Abnormal heart morphology, Atrial septal defec... ORPHA:314588
Prolactinoma
Pallor, Delayed puberty ORPHA:2965
Fumarase Deficiency
Perimembranous ventricular septal defect, Pallor OMIM:606812
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Adenohypophysitis
Pallor ORPHA:95512
Cardiac Valvular Dysplasia 1
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... OMIM:212093
Panhypophysitis
Pallor ORPHA:95513
Aregenerative Anemia
Pallor ORPHA:101096
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Abnormal heart morph... ORPHA:980
Incontinentia Pigmenti
Erythema, Short stature, Pallor OMIM:308300
Sheehan Syndrome
Dry skin, Pallor ORPHA:91355
Pituitary Apoplexy
Pallor ORPHA:95613
Alternating Hemiplegia Of Childhood
Cardiomyopathy, Pallor ORPHA:2131
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
De Barsy Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Prominent veins on ... ORPHA:2962
Esophageal Atresia
Growth delay, Tetralogy of Fallot, Ventricular septal defect, Pallor ORPHA:1199
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor ORPHA:98849
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Degcags Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pallor, Pulmonic stenosis, Atrial septal def... OMIM:619488
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Diamond-Blackfan Anemia
Ventricular septal defect, Short stature, Abnormal heart morphology, Growth delay, Pallor, Atrial... ORPHA:124
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Growth delay, Anemic pallor ORPHA:329971
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Histiocytoid Cardiomyopathy
Ventricular septal defect, Pallor, Cardiomegaly ORPHA:137675
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa... ORPHA:99125
Distal Deletion 15Q
Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... ORPHA:1596
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Pallor, Myocardial eosinophilic infiltration ORPHA:3260
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... ORPHA:95430
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aort... OMIM:617506
20Q13.33 Microdeletion Syndrome
Atrial septal defect, Abnormal cardiac ventricle morphology, Hypoplastic aortic arch, Dilation of... ORPHA:261311
Pearson Marrow-Pancreas Syndrome
Erythema, Pallor OMIM:557000
Tsh-Secreting Pituitary Adenoma
Pericardial effusion, Pallor, Delayed puberty ORPHA:91347
Autosomal Recessive Malignant Osteopetrosis
Growth delay, Pallor, Abnormal pulmonary valve morphology ORPHA:667
Fryns Syndrome
Abnormal aortic arch morphology, Abnormal cardiac septum morphology, Tetralogy of Fallot, Abnorma... ORPHA:2059
22Q11.2 Deletion Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Spina bifida, Retinal arteriolar ... ORPHA:567
Von Hippel-Lindau Disease
Myocarditis, Cardiomyopathy, Pallor ORPHA:892
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Pallor ORPHA:544482
Multiple Endocrine Neoplasia Type 2
Pallor ORPHA:653
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... OMIM:619472
8Q24.3 Microdeletion Syndrome
Branchial cyst, Ventricular septal defect, Atrioventricular canal defect, Patent ductus arteriosu... ORPHA:508488
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Doubl... OMIM:300166
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
Ventricular septal defect, Large placenta, Pulmonary artery stenosis, Abnormal aortic arch morpho... ORPHA:96334
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Hypopl... OMIM:157800
Goodpasture Syndrome
Pallor OMIM:233450
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Ventricular septal defect, Mitral atresia, Ascending aorta hypoplasia, Muscular ventricular septa... 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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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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