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Gene: Pifo MGI:1923670

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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:
primary cilia formation
Synonyms:
1700027A23Rik,  pitchfork

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 Pifo 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 Pifo by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 35
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... OMIM:618341
Spermatogenic Failure 72
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... OMIM:619867
Spermatogenic Failure 34
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:618153
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 37
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618429
Spermatogenic Failure 18
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:617576
Spermatogenic Failure 46
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:619095
Spermatogenic Failure 27
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:617965
Spermatogenic Failure 33
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618152
Spermatogenic Failure 65
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... OMIM:619712
Spermatogenic Failure 56
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:619515
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 45
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 49
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:301059
Spermatogenic Failure 54
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... OMIM:619379
Spermatogenic Failure 58
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... OMIM:619585
Spermatogenic Failure 40
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... OMIM:618664
Spermatogenic Failure 76
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:620084
Spermatogenic Failure 42
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... OMIM:618745
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... OMIM:618643
Spermatogenic Failure 47
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:619102
Male Infertility Due To Acephalic Spermatozoa
Abnormal sperm mid-piece morphology, Reduced sperm motility, Oligospermia, Male infertility, Acep... ORPHA:529970
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:614822
Spermatogenic Failure 7
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm OMIM:612997
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:618670
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619937
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 25
Early spermatogenesis maturation arrest, Cryptozoospermia, Male infertility, Non-obstructive azoo... OMIM:617960
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia OMIM:619108
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... OMIM:617912
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619528
Deafness-Infertility Syndrome
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... OMIM:611102
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia ORPHA:1646
Spermatogenic Failure 63
Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 5
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head OMIM:243060
Spermatogenic Failure 70
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility OMIM:619828
Spermatogenic Failure 44
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:619044
Spermatogenic Failure 16
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Cryptozoospermia, Male infertility, Azoospermia OMIM:618110
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology OMIM:619696
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia OMIM:619145
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Hypoplastic pulmonary veins, Ventricular septal defect, Secundum a... OMIM:613854
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia OMIM:619831
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Genitopalatocardiac Syndrome
Double outlet right ventricle, Transposition of the great arteries, Right aortic arch, Ventricula... OMIM:231060
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Patent ductus arteriosus, Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left ... OMIM:618845
Conotruncal Heart Malformations
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Complete atrioventricula... OMIM:217095
Ciliary Dyskinesia, Primary, 18
Respiratory insufficiency due to defective ciliary clearance, Immotile cilia, Absent inner dynein... OMIM:614874
Isochromosomy Yp
Male infertility, Azoospermia ORPHA:98797
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... OMIM:614779
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Absent inner and outer dynein arms, Male infertility OMIM:618801
Partial Atrioventricular Septal Defect
Patent ductus arteriosus, Double outlet right ventricle, Partial atrioventricular canal defect, B... ORPHA:1330
Recombinant Chromosome 8 Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Atrial septal... OMIM:179613
Primary Ciliary Dyskinesia
Double outlet right ventricle, Abnormal sperm motility, Atrial situs ambiguous, Female infertilit... ORPHA:244
Scimitar Syndrome
Truncus arteriosus, Abnormal vena cava morphology, Double outlet right ventricle, Ventricular sep... ORPHA:185
Tricuspid Atresia
Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, Atrial sept... ORPHA:1209
Isochromosomy Yq
Male infertility, Azoospermia ORPHA:98798
Heterotaxy, Visceral, 12, Autosomal
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Left superior ven... OMIM:619702
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal... OMIM:618316
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Absent inner dynein arms, Reduced spe... OMIM:613807
Ciliary Dyskinesia, Primary, 19
Respiratory insufficiency due to defective ciliary clearance, Immotile cilia, Absent inner and ou... OMIM:614935
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Reduce... OMIM:617091
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Ventricular septal defect, Atrial septal defect, Hypoplastic left ... OMIM:220210
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallo... ORPHA:3304
Aortic Valve Disease 1
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp... OMIM:109730
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Ventricular Septal Defect 1
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... OMIM:614429
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... OMIM:617205
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Situs inversus totalis, Male infertility, Ciliary dyskinesia OMIM:612444
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Spermatogenic Failure 75
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619949
Double Outlet Right Ventricle
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Coarctation of aort... ORPHA:3426
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Atrioventricular canal defect, Right atrial isomerism, Patent forame... OMIM:306955
Spermatogenic Failure 2
Oligospermia, Male infertility, Azoospermia, Non-obstructive azoospermia OMIM:108420
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Patent ductus arteriosus, Double outlet right ventricle, Unbalanced atrioventricular canal defect... OMIM:619657
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:616950
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic v... ORPHA:477817
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Left atrial isomerism, Bilateral su... OMIM:605376
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Ventricular septal defect, Transposition of the great arteries, Bi... OMIM:613751
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Coarctation of aorta, Hy... OMIM:618164
Spermatogenic Failure 77
Multiflagellar spermatozoa, Oligospermia, Male infertility, Azoospermia OMIM:620103
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Dilated cardiomyopathy, Pulmonary artery hypoplasia, Anomalous ori... ORPHA:2326
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Pulmonary artery atresia, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal de... OMIM:301056
16P13.11 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Congenitally Uncorrected Transposition Of The Great Arteries
Patent ductus arteriosus, Ventricular septal defect, Abnormal mitral valve morphology, Levotransp... ORPHA:860
Peroxisome Biogenesis Disorder 12A (Zellweger)
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect OMIM:614886
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Mitral valve pro... ORPHA:371428
Yuan-Harel-Lupski Syndrome
Aortic root aneurysm, Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic v... OMIM:616652
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Atrioventricular canal defect, Double outlet right ventricle, Ascending t... OMIM:270100
Heterotaxy, Visceral, 7, Autosomal
Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Transposition ... OMIM:616749
Familial Male-Limited Precocious Puberty
Oligospermia, Male infertility ORPHA:3000
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Male infertility, Dextrocardia OMIM:618948
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis, Male infertility OMIM:300991
Spermatogenic Failure 14
Male infertility, Azoospermia, Late spermatogenesis maturation arrest OMIM:615842
Aortic Arch Interruption
Patent ductus arteriosus, Double outlet right ventricle, Aortic valve atresia, Abnormal ascending... ORPHA:2299
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia OMIM:618086
Maternal Phenylketonuria
Double outlet right ventricle, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... ORPHA:2209
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Common atrium, Atrial septal defect, Dextrocar... OMIM:208530
Aorta Coarctation
Patent ductus arteriosus, Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspi... ORPHA:1457
Wolcott-Rallison Syndrome
Double outlet right ventricle, Atrial septal defect ORPHA:1667
Cardiac Diverticulum
Bicuspid pulmonary valve, Pulmonary artery stenosis, Endocarditis, Patent foramen ovale, Ventricu... ORPHA:1686
Giant Cell Arteritis
Abdominal aortic aneurysm, Pericarditis, Aortic dissection, Double outlet right ventricle with su... ORPHA:397
X-Linked Intellectual Disability, Nascimento Type
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal... ORPHA:163956
Meacham Syndrome
Patent ductus arteriosus, Ventricular septal defect, Cardiac total anomalous pulmonary venous con... OMIM:608978
Ciliary Dyskinesia, Primary, 1
Immotile cilia, Situs inversus totalis, Male infertility, Absent outer dynein arms, Ciliary dyski... OMIM:244400
Diabetic Embryopathy
Abnormal aortic morphology, Spinal dysraphism, Ventricular septal defect, Tetralogy of Fallot, Tr... ORPHA:1926
Down Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Double outlet right ventricle, Patent fo... OMIM:190685
Ring Chromosome Y Syndrome
Abnormal spermatogenesis, Azoospermia, Male hypogonadism, Female infertility, Male infertility, S... ORPHA:261529
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia... OMIM:618780
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Ventricular septal defect, Atrial septa... ORPHA:1913
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Truncus Arteriosus
Truncus arteriosus, Pulmonary artery stenosis, Ventricular septal defect, Interrupted aortic arch... ORPHA:3384
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Ventric... ORPHA:99050
Congenital Total Pulmonary Venous Return Anomaly
Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Ventricular septal defec... ORPHA:99125
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Male infertility, Obstructive azoospermia ORPHA:48
Frank-Ter Haar Syndrome
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Secundum atrial s... OMIM:249420
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Patent ductus arteriosus, Double outlet right ventricle, Pulmonic stenosis, Atrial septal defect OMIM:618223
Viss Syndrome
Aortic tortuosity, Ascending tubular aorta aneurysm, Carotid artery dilatation, Aortic root aneur... OMIM:619472
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Spina bifida occulta, Transposition of the great arteries, Pulmonic stenosis, Perimembranous vent... OMIM:617877
Fanconi Anemia, Complementation Group A
Abnormal heart morphology, Prolonged G2 phase of cell cycle, Male infertility, Hypergonadotropic ... OMIM:227650
Distal Monosomy 15Q
Patent ductus arteriosus, Mitral atresia, Double outlet right ventricle with doubly committed ven... ORPHA:1596
Microphthalmia, Syndromic 2
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Mitral valve ... OMIM:300166
8P23.1 Microdeletion Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Abnormal car... ORPHA:251071
Carpenter Syndrome 1
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Spina bifida occulta, ... OMIM:201000
Intellectual Developmental Disorder, Autosomal Dominant 66
Aortic root aneurysm, Secundum atrial septal defect, Transposition of the great arteries, Cerebra... OMIM:619910
22Q11.2 Duplication Syndrome
Ventricular septal defect, Interrupted aortic arch, Hypoplastic left heart, Tetralogy of Fallot, ... ORPHA:1727
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Holoprosencephaly 13, X-Linked
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal... OMIM:301043
Meacham Syndrome
Patent ductus arteriosus, Conotruncal defect, Ventricular septal defect, Atrial septal defect, Co... ORPHA:3097
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Male infertility, Dextrocardia OMIM:619607
Charge Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Pulmonary art... OMIM:214800
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Transposition of the great arteries OMIM:616789
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Dextrocardia, Persistent left superior vena cava, Neonatal death, ... OMIM:314390
Criss-Cross Heart
Ventricular septal defect, Abnormal mitral valve morphology, Mitral stenosis, Tricuspid stenosis,... ORPHA:1461
Holoprosencephaly 14
Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect OMIM:619895
Heart Defects, Congenital, And Other Congenital Anomalies
Patent ductus arteriosus, Patent foramen ovale, Truncus arteriosus, Ventricular septal defect, Pe... OMIM:600001
Kawasaki Disease
Ascending tubular aorta aneurysm, Abnormal heart valve morphology, Pericarditis, Myocarditis, Dou... ORPHA:2331
Fanconi Anemia, Complementation Group E
Abnormal heart morphology, Prolonged G2 phase of cell cycle, Hypergonadotropic hypogonadism OMIM:600901
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Subvalvular aortic stenosis, Double outlet right ventricle, Mitral atresia, Ventricular septal de... OMIM:619503
Doors Syndrome
Spina bifida occulta, Double outlet right ventricle, Arrhinencephaly, Sirenomelia ORPHA:79500
Isotretinoin-Like Syndrome
Patent ductus arteriosus, Conotruncal defect, Bicuspid aortic valve, Abnormal aortic arch morphol... ORPHA:2306
47,Xyy Syndrome
Oligospermia, Male infertility, Azoospermia ORPHA:8
Thoracoabdominal Syndrome
Patent ductus arteriosus, Anencephaly, Transposition of the great arteries, Ectopia cordis OMIM:313850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Dilated cardiomyopathy, Atrial septal defect, Myocardial fibrosis, Transposition o... OMIM:253800
Fanconi Anemia, Complementation Group C
Prolonged G2 phase of cell cycle, Hypergonadotropic hypogonadism, Ventricular septal defect OMIM:227645
Ververi-Brady Syndrome
Transposition of the great arteries OMIM:617982
Fanconi Anemia, Complementation Group D2
Patent ductus arteriosus, Abnormal heart morphology, Prolonged G2 phase of cell cycle, Hypergonad... OMIM:227646
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Hypoplastic tricuspid ... ORPHA:2255
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Thakker-Donnai Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Ventricular septal defect ORPHA:1780
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect OMIM:243440
Partial Androgen Insensitivity Syndrome
Male infertility, Azoospermia, Male sexual dysfunction, Primary amenorrhea ORPHA:90797
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Ventricular septal defect, Peripheral p... OMIM:280000
Neu-Laxova Syndrome 1
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Spina bifida, Short um... OMIM:256520
Short Rib-Polydactyly Syndrome
Situs inversus totalis, Transposition of the great arteries, Abnormal heart morphology ORPHA:1505
Aromatase Deficiency
Female infertility, Male infertility, Hypergonadotropic hypogonadism, Primary amenorrhea ORPHA:91
Chime Syndrome
Pulmonary valve atresia, Tetralogy of Fallot, Transposition of the great arteries, Ventricular se... ORPHA:3474
46,Xy Partial Gonadal Dysgenesis
Decreased fertility in females, Azoospermia, Male infertility, Hypergonadotropic hypogonadism, Pr... ORPHA:251510
Restrictive Dermopathy
Patent ductus arteriosus, Ascending tubular aorta aneurysm, Short umbilical cord, Atrial septal d... ORPHA:1662
Vater/Vacterl Association
Patent ductus arteriosus, Ventricular septal defect, Spina bifida, Patent urachus, Occipital ence... OMIM:192350
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Patent ductus arteriosus, Ascending tubular aorta aneurysm, Truncus arteriosus, Perimembranous ve... OMIM:612474
Carpenter Syndrome 2
Patent ductus arteriosus, Atrial septal defect, Situs inversus totalis, Dextrocardia, Transpositi... OMIM:614976
Simpson-Golabi-Behmel Syndrome, Type 1
Patent ductus arteriosus, Ventricular septal defect, Transposition of the great arteries, Atrial ... OMIM:312870

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 Pifo

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 Pifo.

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

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Cimap3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Cimap3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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