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Gene: Npnt MGI:2148811

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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:
nephronectin
Synonyms:
POEM,  1110009H02Rik

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 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, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Ureter, Cancer Of
Neoplasm of the ureter OMIM:191600
Cryptorchidism, Unilateral Or Bilateral
Renal agenesis OMIM:219050
Vesicoureteral Reflux 2
Vesicoureteral reflux, Renal hypoplasia OMIM:610878
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... 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
Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis OMIM:618845
Bladder Exstrophy And Epispadias Complex
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy OMIM:600057
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Unilateral renal agenesis ORPHA:2512
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia OMIM:236110
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis OMIM:617661
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2487
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Renal agenesis, Unilateral renal agenesis, Ectopic kidney OMIM:601076
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis OMIM:274265
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis OMIM:601355
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... ORPHA:2260
Mayer-Rokitansky-Küster-Hauser Syndrome
Horseshoe kidney, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney ORPHA:3109
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... ORPHA:411709
Coloboma Of Macula With Type B Brachydactyly
Renal agenesis OMIM:120400
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Vesicoureteral Reflux 3
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... OMIM:613674
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis ORPHA:281090
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
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Micropenis, Crossed fused renal ectopia, Unilateral renal agenesis OMIM:618142
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... OMIM:236730
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Burn-Mckeown Syndrome
Renal hypoplasia, Unilateral renal agenesis OMIM:608572
Beaulieu-Boycott-Innes Syndrome
Recurrent urinary tract infections, Unilateral renal agenesis, Horseshoe kidney OMIM:613680
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... OMIM:617641
Sacral Agenesis With Vertebral Anomalies
Unilateral renal agenesis, Persistent cloaca OMIM:615709
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... OMIM:614377
Chopra-Amiel-Gordon Syndrome
Unilateral renal agenesis OMIM:619504
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, Unilateral renal agenesis OMIM:609757
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Hydronephrosis, Renal hypoplasia, Unilateral renal agenesis OMIM:618494
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis ORPHA:3306
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Coach Syndrome 1
Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ... OMIM:216360
Braddock Syndrome
Unilateral renal agenesis ORPHA:52047
Branchiootorenal Syndrome 1
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... OMIM:113650
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Abnormality of the ureter, Hypospadias, Renal hypoplasia/aplasia ORPHA:1046
Hogue-Janssen Syndrome 2
Unilateral renal agenesis OMIM:616362
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormality of the kidney, Unilateral renal agenesis OMIM:118100
Kallmann Syndrome With Spastic Paraplegia
Micropenis, Unilateral renal agenesis OMIM:308750
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen... ORPHA:363444
Congenital Disorder Of Glycosylation, Type Iil
Hyperechogenic kidneys, Proximal tubulopathy, Unilateral renal agenesis OMIM:614576
Emanuel Syndrome
Recurrent urinary tract infections, Micropenis, Renal hypoplasia, Unilateral renal agenesis OMIM:609029
Fraser Syndrome 2
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl... OMIM:617666
Ehlers-Danlos Syndrome, Classic-Like
Vesicoureteral reflux, Unilateral renal agenesis OMIM:606408
Diamond-Blackfan Anemia 11
Unilateral renal agenesis OMIM:614900
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis ORPHA:1064
Schizophrenia 1
Partially duplicated kidney, Renal agenesis, Ectopic kidney OMIM:181510
Emanuel Syndrome
Micropenis, Renal hypoplasia, Unilateral renal agenesis ORPHA:96170
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
Death in infancy, Hydroureter, Hydronephrosis OMIM:618240
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Vesicoureteral reflux, Micropenis, Unilateral renal agenesis OMIM:619951
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:308700
Bifid Nose With Or Without Anorectal And Renal Anomalies
Renal agenesis, Unilateral renal agenesis OMIM:608980
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Renal agenesis, Unilateral renal agenesis OMIM:619227
Penoscrotal Transposition
Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Abnormality o... ORPHA:2842
Prune Belly Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... ORPHA:2970
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis OMIM:619362
Shashi-Pena Syndrome
Unilateral renal agenesis OMIM:617190
Short Stature, Microcephaly, And Endocrine Dysfunction
Micropenis, Renal hypoplasia, Unilateral renal agenesis, Ectopic kidney OMIM:616541
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Polycystic kidney dysplasia, Vesi... ORPHA:2237
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Renal dysplasia, Ectopic kidney ORPHA:2578
Nager Syndrome
Unilateral renal agenesis ORPHA:245
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis OMIM:249210
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil... OMIM:614527
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis OMIM:616603
Takenouchi-Kosaki Syndrome
Hypospadias, Hydronephrosis, Unilateral renal agenesis OMIM:616737
Bladder Exstrophy
Recurrent urinary tract infections, Hypoplasia of penis, Epispadias, Abnormality of the ureter, V... ORPHA:93930
Methylmalonic Acidemia With Homocystinuria Type Cblf
Methylmalonic aciduria, Unilateral renal agenesis ORPHA:79284
Silver-Russell Syndrome 1
Urethral valve, Hypospadias, Abnormality of the ureter, Congenital posterior urethral valve, Neph... OMIM:180860
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... ORPHA:105
Bnar Syndrome
Renal agenesis ORPHA:217266
Nephrolithiasis, Calcium Oxalate, 1
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... OMIM:167030
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis ORPHA:464311
Beta-Mercaptolactate Cysteine Disulfiduria
Abnormality of the ureter ORPHA:1035
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis OMIM:618188
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure... ORPHA:3027
Ventriculomegaly With Defects Of The Radius And Kidney
Ureteral duplication, Renal agenesis, Horseshoe kidney, Ectopic kidney OMIM:602200
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis ORPHA:464306
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent urinary tract infections, Unilateral renal agenesis ORPHA:221139
Neurooculorenal Syndrome
Hypoplasia of the bladder, Unilateral renal agenesis, Stage 2 chronic kidney disease, Stage 5 chr... OMIM:620305
7Q11.23 Microduplication Syndrome
Enuresis, Hypospadias, Hydronephrosis, Unilateral renal agenesis ORPHA:96121
Fanconi Anemia, Complementation Group L
Micropenis, Renal hypoplasia, Unilateral renal agenesis OMIM:614083
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis OMIM:101800
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypospadias, Unilateral renal agenesis, Microphallus, Abnormal renal collecting system morphology... ORPHA:468631
Cockayne Syndrome Type 3
Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Renal hypoplasia... ORPHA:90324
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2522
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Abnormality of the ureter ORPHA:3409
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Bilateral renal agenesis, Unilateral renal agenesis, Hydroureter OMIM:619194
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypospadias, Unilateral renal agenesis, Dilatation of the renal pelvis, Abnormality of the urinar... ORPHA:95699
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Renal agenesis, Un... OMIM:270400
Hereditary Orotic Aciduria
Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria ORPHA:30
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Unilateral renal agenesis OMIM:620024
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis ORPHA:2673
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hydronephrosis, Unilateral renal agenesis OMIM:308050
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Unilateral renal agenesis OMIM:213980
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... ORPHA:1834
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Renal hypoplasia, Unilateral renal agenesis, Pyelonephritis OMIM:181270
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Hydronephrosis, Unilateral renal agenesis ORPHA:487796
Cockayne Syndrome
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... ORPHA:191
Myoectodermal Gonadal Dysgenesis Syndrome
Unilateral renal agenesis OMIM:618419
Trisomy 13
Displacement of the urethral meatus, Abnormality of the ureter, Multiple renal cysts, Hydronephrosis ORPHA:3378
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Recurrent urinary tract infections, Hypospadias, Unilateral renal agenesis, Dilatation of the ren... ORPHA:268261
Leopard Syndrome 1
Micropenis, Hypospadias, Unilateral renal agenesis OMIM:151100
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Abnormality of the ureter, Renal hypoplasia/aplasia ORPHA:1770
Zttk Syndrome
Polyuria, Unilateral renal agenesis, Horseshoe kidney OMIM:617140
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis ORPHA:457284
Aredyld Syndrome
Abnormality of the ureter ORPHA:1133
Cloacal Exstrophy
Hypoplasia of penis, Hydroureter, Ectopic kidney, Renal hypoplasia/aplasia, Horseshoe kidney, Ure... ORPHA:93929
Exstrophy-Epispadias Complex
Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias... ORPHA:322
Acrofacial Dysostosis 1, Nager Type
Unilateral renal agenesis OMIM:154400
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Megacystis, Hydronephrosis OMIM:619431
8Q24.3 Microdeletion Syndrome
Abnormality of the kidney, Unilateral renal agenesis, Bilateral renal hypoplasia, Vesicoureteral ... ORPHA:508488
Smith-Magenis Syndrome
Abnormality of the ureter, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:819
Peutz-Jeghers Syndrome
Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts ORPHA:2869
Distal 22Q11.2 Microduplication Syndrome
Unilateral renal agenesis ORPHA:261337
Autosomal Dominant Cutis Laxa
Bladder diverticulum, Unilateral renal agenesis, Pyelonephritis ORPHA:90348
Proboscis Lateralis
Ureteral agenesis, Duplication of renal pelvis, Unilateral renal agenesis ORPHA:141099
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... ORPHA:79403
Trisomy 20P
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... ORPHA:261318
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Death in infancy, Multicystic kidney dysplasia, Hydroureter, Megacystis ORPHA:2241
Autosomal Recessive Spondylocostal Dysostosis
Abnormality of the ureter, Hypospadias ORPHA:2311
Pallister-Hall Syndrome
Hypospadias, Unilateral renal agenesis, Ectopic kidney, Bilateral renal agenesis, Micropenis, Ren... ORPHA:672
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Urinary urgency, Micropenis, Pelvic kidney, Unilateral renal agenesis OMIM:619503
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Bilateral renal dysplasia, Unilateral renal agenesis, Horseshoe kidney ORPHA:500150
Alagille Syndrome
Nephrotic syndrome, Abnormality of the ureter, Renal hypoplasia/aplasia ORPHA:52
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Hypospadias, Epispadias, Abnormality of the ureter, Abnormality of the... ORPHA:3339
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Renal dyspl... OMIM:308205
Baller-Gerold Syndrome
Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney ORPHA:1225
Digeorge Syndrome
Renal dysplasia, Renal insufficiency, Hydronephrosis, Unilateral renal agenesis OMIM:188400
Dextrocardia
Abnormal renal morphology, Abnormality of the ureter ORPHA:1666
Ellis Van Creveld Syndrome
Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Epispadias, Abnorm... ORPHA:289
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the ureter ORPHA:3253
Igg4-Related Kidney Disease
Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urinary bladder inf... ORPHA:449395
Peutz-Jeghers Syndrome
Abnormality of the ureter, Bladder polyp OMIM:175200
Acrorenal-Mandibular Syndrome
Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia OMIM:200980
Schwartz-Jampel Syndrome
Death in infancy, Abnormality of the urinary system, Abnormality of the ureter, Nephrolithiasis ORPHA:800
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
D-2-hydroxyglutaric aciduria, Unilateral renal agenesis ORPHA:99646
Schinzel-Giedion Syndrome
Hypospadias, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Micropenis, Nephroblastoma, ... 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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