Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
nephronectin
Synonyms:
POEM,  1110009H02Rik

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 Npnt 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 Npnt by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... OMIM:610805
Ureter, Cancer Of
Neoplasm of the ureter OMIM:191600
Cryptorchidism, Unilateral Or Bilateral
Renal agenesis OMIM:219050
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Radial-Renal Syndrome
Unilateral renal agenesis, Ectopic kidney OMIM:179280
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Bilateral renal agenesis, Ureteral atresia OMIM:618845
Autosomal Recessive Primary Microcephaly
Unilateral renal agenesis, Vesicoureteral reflux ORPHA:2512
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... ORPHA:617
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bladder exstrophy, Epispadias OMIM:600057
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Renal insufficiency, Ureteropelvic junctio... OMIM:143400
Holzgreve Syndrome
Renal hypoplasia, Renal agenesis OMIM:236110
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia OMIM:617661
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2487
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis OMIM:274265
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Ectopic kidney, Renal agenesis OMIM:601076
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis OMIM:601355
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... ORPHA:2260
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... ORPHA:411709
Coloboma Of Macula With Type B Brachydactyly
Renal agenesis OMIM:120400
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Vesicoureteral Reflux 3
Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico... OMIM:613674
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Renal insufficiency ORPHA:281090
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Intellectual Developmental Disorder, Autosomal Recessive 71
Micropenis, Unilateral renal agenesis OMIM:618504
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:244200
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Micropenis, Unilateral renal agenesis, Crossed fused renal ectopia OMIM:618142
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral v... OMIM:236730
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Burn-Mckeown Syndrome
Unilateral renal agenesis, Renal hypoplasia OMIM:608572
Beaulieu-Boycott-Innes Syndrome
Horseshoe kidney, Unilateral renal agenesis, Recurrent urinary tract infections OMIM:613680
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... ORPHA:93599
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr... OMIM:614377
Chopra-Amiel-Gordon Syndrome
Unilateral renal agenesis OMIM:619504
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki... OMIM:617641
Sacral Agenesis With Vertebral Anomalies
Unilateral renal agenesis, Persistent cloaca OMIM:615709
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, Unilateral renal agenesis OMIM:609757
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Hydronephrosis, Unilateral renal agenesis, Renal hypoplasia OMIM:618494
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ... OMIM:614723
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis ORPHA:3306
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni... OMIM:216360
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia ORPHA:1046
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Vesico... OMIM:113650
Braddock Syndrome
Unilateral renal agenesis ORPHA:52047
Houge-Janssens Syndrome 2
Unilateral renal agenesis OMIM:616362
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop... OMIM:137920
Fliedner-Zweier Syndrome
Hydronephrosis, Unilateral renal agenesis, Multicystic kidney dysplasia OMIM:620511
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Kallmann Syndrome With Spastic Paraplegia
Micropenis, Unilateral renal agenesis OMIM:308750
Klippel-Feil Syndrome 1, Autosomal Dominant
Unilateral renal agenesis, Abnormality of the kidney OMIM:118100
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Recurrent urinary tract infections, Horseshoe kidney, Abnormality of t... ORPHA:363444
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Proximal tubulopathy, Hyperechogenic kidneys OMIM:614576
Fanconi Anemia, Complementation Group N
Unilateral renal agenesis, Horseshoe kidney, Nephroblastoma, Ectopic kidney, Pelvic kidney OMIM:610832
Emanuel Syndrome
Micropenis, Unilateral renal agenesis, Renal hypoplasia, Recurrent urinary tract infections OMIM:609029
Ehlers-Danlos Syndrome, Classic-Like, 1
Unilateral renal agenesis, Vesicoureteral reflux OMIM:606408
Fraser Syndrome 2
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of... OMIM:617666
Hypouricemia, Renal, 1
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... OMIM:220150
Diamond-Blackfan Anemia 11
Unilateral renal agenesis OMIM:614900
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis ORPHA:1064
Schizophrenia 1
Partially duplicated kidney, Ectopic kidney, Renal agenesis OMIM:181510
Emanuel Syndrome
Micropenis, Unilateral renal agenesis, Renal hypoplasia ORPHA:96170
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Micropenis, Unilateral renal agenesis, Vesicoureteral reflux OMIM:619951
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Renal agenesis ORPHA:2155
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis OMIM:158330
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter, Death in infancy OMIM:618240
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:308700
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Abnormality of the... ORPHA:2970
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Unilateral renal agenesis, Renal agenesis OMIM:619227
Penoscrotal Transposition
Penoscrotal transposition, Abnormality of the urethra, Renal agenesis, Abnormality of the ureter,... ORPHA:2842
Bifid Nose With Or Without Anorectal And Renal Anomalies
Unilateral renal agenesis, Renal agenesis OMIM:608980
Shashi-Pena Syndrome
Unilateral renal agenesis OMIM:617190
Short Stature, Microcephaly, And Endocrine Dysfunction
Micropenis, Unilateral renal agenesis, Renal hypoplasia, Ectopic kidney OMIM:616541
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Polycystic... ORPHA:2237
Nager Syndrome
Unilateral renal agenesis ORPHA:245
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Fetal megacystis, Hydroureter, Neonatal death OMIM:619362
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis OMIM:249210
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Ectopic kidney, Renal agenesis, Renal dysplasia ORPHA:2578
Mayer-Rokitansky-Küster-Hauser Syndrome
Horseshoe kidney, Unilateral renal agenesis, Ectopic kidney, Abnormality of the kidney ORPHA:3109
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis OMIM:616603
Takenouchi-Kosaki Syndrome
Hydronephrosis, Unilateral renal agenesis, Hypospadias OMIM:616737
Congenital Disorder Of Glycosylation, Type Iiaa
Hydronephrosis, Unilateral renal agenesis OMIM:620454
Bladder Exstrophy
Recurrent urinary tract infections, Abnormality of the ureter, Vesicoureteral reflux, Hypoplasia ... ORPHA:93930
Methylmalonic Acidemia With Homocystinuria Type Cblf
Unilateral renal agenesis, Methylmalonic aciduria ORPHA:79284
Silver-Russell Syndrome 1
Abnormality of the ureter, Nephroblastoma, Urethral valve, Hypospadias, Congenital posterior uret... OMIM:180860
Atresia Of Urethra
Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency... ORPHA:105
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D... OMIM:174000
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Unilateral renal agenesis, Renal hypoplasia, Vesicoureteral reflux OMIM:620654
Bnar Syndrome
Renal agenesis ORPHA:217266
Nephrolithiasis, Calcium Oxalate, 1
Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr... OMIM:167030
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Hypospadias, Hydronephrosis, Renal cyst, Micropenis, Pelvic kidney ORPHA:464311
Hyperparathyroidism, Transient Neonatal
Unilateral renal agenesis, Enlarged kidney OMIM:618188
Caudal Regression Syndrome
Renal agenesis, Abnormality of the ureter, Renal insufficiency, Vesicoureteral reflux, Ureteral d... ORPHA:3027
Beta-Mercaptolactate Cysteine Disulfiduria
Abnormality of the ureter ORPHA:1035
Ventriculomegaly With Defects Of The Radius And Kidney
Horseshoe kidney, Ureteral duplication, Ectopic kidney, Renal agenesis OMIM:602200
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Hypospadias, Hydronephrosis, Renal cyst, Micropenis, Pelvic kidney ORPHA:464306
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Unilateral renal agenesis, Recurrent urinary tract infections ORPHA:221139
Neurooculorenal Syndrome
Unilateral renal agenesis, Hypoplasia of the bladder, Bilateral renal agenesis, Hyperechogenic ki... OMIM:620305
Cockayne Syndrome Type 3
Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Renal insufficiency,... ORPHA:90324
7Q11.23 Microduplication Syndrome
Hydronephrosis, Unilateral renal agenesis, Enuresis, Hypospadias ORPHA:96121
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Unilateral renal agenesis, Hypospadias, Abnormal renal collecting system morphology, Microphallus... ORPHA:468631
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis OMIM:101800
Fanconi Anemia, Complementation Group L
Micropenis, Unilateral renal agenesis, Renal hypoplasia OMIM:614083
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2522
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Unilateral renal agenesis, Hydroureter, Bilateral renal agenesis OMIM:619194
Urban-Rogers-Meyer Syndrome
Abnormality of the ureter, Hypoplasia of penis ORPHA:3409
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Unilateral renal agenesis, Abnormality of the urinary system, Dilatation of the renal pelvis, Ves... ORPHA:95699
Smith-Lemli-Opitz Syndrome
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Ureteropelvic junction obstruction, ... OMIM:270400
Hereditary Orotic Aciduria
Aminoaciduria, Abnormality of the ureter, Oroticaciduria, Orotic acid crystalluria ORPHA:30
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormality of the ureter, Renal hypoplasia/aplasia, Hydroneph... ORPHA:1834
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Unilateral renal agenesis OMIM:620024
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis ORPHA:2673
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Unilateral renal agenesis OMIM:213980
Scalp-Ear-Nipple Syndrome
Unilateral renal agenesis, Renal hypoplasia, Renal insufficiency, Pyelonephritis OMIM:181270
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hydronephrosis, Unilateral renal agenesis OMIM:308050
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hydronephrosis, Unilateral renal agenesis, Hypospadias ORPHA:487796
Cockayne Syndrome
Unilateral renal agenesis, Renal hypoplasia, Renal insufficiency, Proteinuria, Neurogenic bladder... ORPHA:191
Amyloidosis, Finnish Type
Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Nephrotic syndrome, Renal glom... OMIM:105120
Trisomy 13
Hydronephrosis, Abnormality of the ureter, Multiple renal cysts, Displacement of the urethral meatus ORPHA:3378
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Displacement of the urethr... ORPHA:2973
Myoectodermal Gonadal Dysgenesis Syndrome
Unilateral renal agenesis OMIM:618419
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Unilateral renal agenesis, Dilatation of the renal pelvis, Recurrent urinary tract infections, Ch... ORPHA:268261
Leopard Syndrome 1
Micropenis, Unilateral renal agenesis, Hypospadias OMIM:151100
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Abnormality of the ureter, Renal hypoplasia/aplasia ORPHA:1770
Zttk Syndrome
Horseshoe kidney, Unilateral renal agenesis, Polyuria OMIM:617140
Cloacal Exstrophy
Hydroureter, Ureterocele, Horseshoe kidney, Vesicoureteral reflux, Ureteropelvic junction obstruc... ORPHA:93929
Aredyld Syndrome
Abnormality of the ureter ORPHA:1133
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis ORPHA:457284
Exstrophy-Epispadias Complex
Penoscrotal transposition, Renal hypoplasia, Renal dysplasia, Horseshoe kidney, Abnormality of th... ORPHA:322
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydronephrosis, Hydroureter, Megacystis OMIM:619431
Acrofacial Dysostosis 1, Nager Type
Unilateral renal agenesis OMIM:154400
Distal 22Q11.2 Microduplication Syndrome
Unilateral renal agenesis ORPHA:261337
Smith-Magenis Syndrome
Abnormality of the ureter, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:819
Peutz-Jeghers Syndrome
Abnormality of the ureter, Multiple renal cysts, Renal cell carcinoma ORPHA:2869
8Q24.3 Microdeletion Syndrome
Unilateral renal agenesis, Bilateral renal hypoplasia, Vesicoureteral reflux, Abnormality of the ... ORPHA:508488
Autosomal Dominant Cutis Laxa
Unilateral renal agenesis, Pyelonephritis, Bladder diverticulum ORPHA:90348
Junctional Epidermolysis Bullosa With Pyloric Atresia
Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Renal duplication, Hematuria, ... ORPHA:79403
Proboscis Lateralis
Ureteral agenesis, Unilateral renal agenesis, Duplication of renal pelvis ORPHA:141099
Trisomy 20P
Abnormality of the ureter, Hydronephrosis, Multiple renal cysts, Abnormality of the kidney, Abnor... ORPHA:261318
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Megacystis, Multicystic kidney dysplasia, Hydroureter, Death in infancy ORPHA:2241
Autosomal Recessive Spondylocostal Dysostosis
Abnormality of the ureter, Hypospadias ORPHA:2311
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Micropenis, Unilateral renal agenesis, Pelvic kidney, Urinary urgency OMIM:619503
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Horseshoe kidney, Unilateral renal agenesis, Bilateral renal dysplasia ORPHA:500150
Alagille Syndrome
Abnormality of the ureter, Nephrotic syndrome, Renal hypoplasia/aplasia ORPHA:52
Pallister-Hall Syndrome
Hypospadias, Unilateral renal agenesis, Bilateral renal agenesis, Micropenis, Ectopic kidney, Ren... ORPHA:672
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Abnormality of the ureter, Abnormality of the bladder, Hypospadias, Ep... ORPHA:3339
Baller-Gerold Syndrome
Hydronephrosis, Abnormality of the ureter, Abnormal localization of kidney, Vesicoureteral reflux ORPHA:1225
Digeorge Syndrome
Hydronephrosis, Unilateral renal agenesis, Renal insufficiency, Renal dysplasia OMIM:188400
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Renal dyspl... OMIM:308205
Dextrocardia
Abnormality of the ureter, Abnormal renal morphology ORPHA:1666
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the ureter ORPHA:3253
Ellis Van Creveld Syndrome
Hydroureter, Abnormality of the ureter, Renal hypoplasia/aplasia, Abnormality of the kidney, Hypo... ORPHA:289
Igg4-Related Kidney Disease
Chronic kidney disease, Acute kidney injury, Urinary bladder inflammation, Urethritis, Ureteral o... ORPHA:449395
Peutz-Jeghers Syndrome
Abnormality of the ureter, Bladder polyp OMIM:175200
Acrorenal-Mandibular Syndrome
Abnormality of the ureter, Polycystic kidney dysplasia, Renal agenesis, Aplasia of the bladder OMIM:200980
Schwartz-Jampel Syndrome
Abnormality of the ureter, Abnormality of the urinary system, Death in infancy, Nephrolithiasis ORPHA:800
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Unilateral renal agenesis, D-2-hydroxyglutaric aciduria ORPHA:99646
Schinzel-Giedion Syndrome
Abnormality of the ureter, Nephroblastoma, Nephrolithiasis, Hydronephrosis, Renal cyst, Micropeni... ORPHA:798
Meckel Syndrome, Type 1
Hypoplasia of the bladder, Renal agenesis, Abnormality of the ureter, Polycystic kidney dysplasia... OMIM:249000
Congenital Tracheal Stenosis
Abnormality of the ureter, Abnormality of the kidney ORPHA:141127

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 Npnt

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 Npnt.

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

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MGI Allele Allele Type Produced
Npnttm103121(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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