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Gene: Impa2 MGI:2149728

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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:
inositol monophosphatase 2
Synonyms:
2210415D20Rik,  inositol (myo)-1(or 4)-monophosphatase 2

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 Impa2 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 Impa2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... OMIM:236730
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Vesicoureteral Reflux 3
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... OMIM:613674
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... OMIM:191800
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... OMIM:613496
Xanthinuria, Type I
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis OMIM:278300
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... ORPHA:2704
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Cat-Eye Syndrome
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:195
Image Syndrome
Hypospadias, Hydronephrosis ORPHA:85173
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
Bardet-Biedl Syndrome 19
Hydronephrosis, Renal insufficiency, Renal hypoplasia OMIM:615996
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... ORPHA:105
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... ORPHA:3467
X-Linked Intellectual Disability, Schimke Type
Vesicoureteral reflux, Hydronephrosis ORPHA:85285
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Hydronephrosis OMIM:618240
Congenital Myopathy 19
Renal atrophy, Hydronephrosis OMIM:618578
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Hydronephrosis OMIM:598500
Joubert Syndrome 35
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections OMIM:618161
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Fanconi Anemia, Complementation Group O
Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst OMIM:613390
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Prune Belly Syndrome
Hydroureter, Congenital posterior urethral valve, Hydronephrosis OMIM:100100
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hydronephrosis OMIM:619797
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis OMIM:619362
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Megacystis, Hydronephrosis OMIM:619431
Tetraploidy
Hydronephrosis, Renal hypoplasia/aplasia ORPHA:3305
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Distal Duplication 6P
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia ORPHA:1745
Endove Syndrome, Limb-Brain Type
Hydronephrosis, Neurogenic bladder, Recurrent urinary tract infections OMIM:619218
Recombinant Chromosome 8 Syndrome
Hydronephrosis OMIM:179613
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... ORPHA:79403
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Vesicoureteral reflux, Hydronephrosis OMIM:618265
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, Unilateral renal agenesis OMIM:609757
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... ORPHA:1834
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hydronephrosis OMIM:620141
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Hydronephrosis OMIM:619217
Diabetic Embryopathy
Ureteral duplication, Micropenis, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:1926
Lethal Congenital Contracture Syndrome 2
Hydronephrosis OMIM:607598
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis OMIM:618060
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Hydronephrosis, Renal hypoplasia, Unilateral renal agenesis OMIM:618494
Trisomy 13
Displacement of the urethral meatus, Abnormality of the ureter, Multiple renal cysts, Hydronephrosis ORPHA:3378
Joubert Syndrome 37
Micropenis, Hydronephrosis OMIM:619185
Brain Malformations With Or Without Urinary Tract Defects
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis OMIM:613735
Tetrasomy 15Q26
Hydronephrosis, Horseshoe kidney OMIM:614846
Toluene Embryopathy
Hydronephrosis, Abnormal localization of kidney ORPHA:1920
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Distal Triplication 15Q
Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Polycystic kidney dy... ORPHA:314588
Trisomy 17P
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis ORPHA:261290
Suleiman-El-Hattab Syndrome
Hydronephrosis OMIM:618950
Ritscher-Schinzel Syndrome 1
Hypospadias, Hydronephrosis OMIM:220210
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Abnormality of the urethra, Abnormality of the urinary system, Aplasia of the bl... ORPHA:158684
22Q11.2 Duplication Syndrome
Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis ORPHA:1727
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Hydronephrosis ORPHA:2083
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micropenis, Hypospadias, Hydronephrosis OMIM:616897
Vacterl/Vater Association
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... ORPHA:887
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis OMIM:300048
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Hydronephrosis OMIM:222300
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Hypospadias, Vesicoureteral reflux, Micropenis, Hydronephrosis OMIM:301056
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Ectopic kidney ORPHA:634
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Unila... ORPHA:49041
Kury-Isidor Syndrome
Hydronephrosis OMIM:619762
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Czeizel-Losonci Syndrome
Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hydronephrosis ORPHA:2437
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Hydronephrosis, Poly... OMIM:608836
Trisomy 1Q
Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis ORPHA:261344
Mesomelia-Synostoses Syndrome
Hydronephrosis ORPHA:2496
X-Linked Intellectual Disability Due To Gria3 Mutations
Micropenis, Hydronephrosis ORPHA:364028
Zaki Syndrome
Renal agenesis, Hydronephrosis OMIM:619648
Koolen-De Vries Syndrome
Ureteral duplication, Hypospadias, Vesicoureteral reflux, Hydronephrosis, Renal duplication ORPHA:96169
9Q21.13 Microdeletion Syndrome
Hydronephrosis ORPHA:531151
Congenital Disorder Of Glycosylation, Type Iig
Hemolytic-uremic syndrome, Renal insufficiency, Hypospadias, Hydronephrosis OMIM:611209
Trisomy 20P
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... ORPHA:261318
3C Syndrome
Hypoplasia of penis, Hypospadias, Hydronephrosis ORPHA:7
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Renal cyst, Vesicoureteral reflux, Micrope... ORPHA:261494
Penile Agenesis
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... ORPHA:49
Webb-Dattani Syndrome
Vesicoureteral reflux, Neurogenic bladder, Hyposthenuria, Hydronephrosis OMIM:615926
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis ORPHA:1297
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis ORPHA:488613
Duane-Radial Ray Syndrome
Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro... OMIM:607323
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Zellweger Syndrome
Multicystic kidney dysplasia, Hypospadias, Hydronephrosis ORPHA:912
46,Xy Sex Reversal 4
Renal dysplasia, Ureteropelvic junction obstruction, Hydronephrosis OMIM:154230
Chromosome 2P16.1-P15 Deletion Syndrome
Micropenis, Hydronephrosis OMIM:612513
Igg4-Related Aortitis
Hydronephrosis ORPHA:449400
Noonan Syndrome 4
Ureteral duplication, Hydronephrosis OMIM:610733
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Polycystic kidney dysplasia, Vesi... ORPHA:2237
Micro Syndrome
Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney ORPHA:2510
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:568
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Hydronephrosis, Vesicoureteral ... OMIM:614080
Johanson-Blizzard Syndrome
Hypoplasia of penis, Hypospadias, Hydronephrosis ORPHA:2315
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral... ORPHA:391641
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Glandular hypospadias... ORPHA:2473
Intellectual Disability, Buenos-Aires Type
Hydronephrosis ORPHA:3079
Melnick-Needles Syndrome
Vesicoureteral reflux, Hydronephrosis ORPHA:2484
Carpenter Syndrome 1
Hydroureter, Hydronephrosis OMIM:201000
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Hydronephrosis OMIM:616449
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil... OMIM:614527
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Horseshoe kidney, Multiple renal cysts, Hydronephrosis ORPHA:99776
Microcephaly 26, Primary, Autosomal Dominant
Hydronephrosis OMIM:619179
Pallister-Hall Syndrome
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Rena... OMIM:146510
Microphthalmia, Syndromic 9
Renal malrotation, Renal hypoplasia, Horseshoe kidney, Pelvic kidney, Hydronephrosis OMIM:601186
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Hydronephrosis ORPHA:457193
Pfeiffer Syndrome Type 3
Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney ORPHA:93260
Musculocontractural Ehlers-Danlos Syndrome
Nephrolithiasis, Functional abnormality of the bladder, Hydronephrosis, Horseshoe kidney ORPHA:2953
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hydronephrosis OMIM:620327
Takenouchi-Kosaki Syndrome
Hypospadias, Hydronephrosis, Unilateral renal agenesis OMIM:616737
15Q Overgrowth Syndrome
Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Nephroblastoma, Hydronephrosis ORPHA:314585
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney, Ectopic kidney OMIM:235510
Baller-Gerold Syndrome
Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney ORPHA:1225
Tarp Syndrome
Hydronephrosis, Horseshoe kidney OMIM:311900
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Hydronephrosis ORPHA:261349
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Albuminuria, Aminoaciduria, Renal cortical microcysts, Hydronephrosis OMIM:214100
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hypoplasia of the bladder, Hydroureter, Vesicoureteral reflux, Crossed fused renal ectopia, Pelvi... OMIM:300707
Visceral Myopathy 1
Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis OMIM:155310
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Hydronephrosis ORPHA:541423
Igg4-Related Kidney Disease
Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urinary bladder inf... ORPHA:449395
Encephalocraniocutaneous Lipomatosis
Pelvic kidney, Hydronephrosis OMIM:613001
Fryns Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis ORPHA:2059
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis ORPHA:35173
Carey-Fineman-Ziter Syndrome
Hydronephrosis, Glandular hypospadias ORPHA:1358
Hyperphosphatasia-Intellectual Disability Syndrome
Hydronephrosis ORPHA:247262
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Micropenis, Hydronephrosis OMIM:235255
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hydronephrosis OMIM:617093
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Hydronephrosis OMIM:617913
Genitopatellar Syndrome
Multicystic kidney dysplasia, Hydronephrosis ORPHA:85201
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... DECIPHER:81
Cat Eye Syndrome
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Horseshoe kidney OMIM:115470
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Micropenis, Abnormal renal morphology, Hydronephrosis ORPHA:1655
Intellectual Developmental Disorder, Autosomal Dominant 53
Micropenis, Hydronephrosis OMIM:617798
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Hydronephrosis OMIM:618460
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Ureteral triplication, Hydronephrosis OMIM:104350
Pelvis-Shoulder Dysplasia
Hydronephrosis ORPHA:2839
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Micropenis, Renal agenesis, Hypospadias, Hydronephrosis OMIM:301040
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Hydronephrosis OMIM:618454
Congenital Myopathy 17
Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia OMIM:618975
Koolen-De Vries Syndrome
Vesicoureteral reflux, Recurrent urinary tract infections, Hydronephrosis OMIM:610443
8P Inverted Duplication/Deletion Syndrome
Micropenis, Abnormality of the urinary system, Hydronephrosis ORPHA:96092
Al-Gazali Syndrome
Hydronephrosis OMIM:609465
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis ORPHA:464311
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic... OMIM:258040
Congenital Disorder Of Glycosylation, Type Iie
Neurogenic bladder, Hydronephrosis OMIM:608779
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia OMIM:236700
Kabuki Syndrome
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... ORPHA:2322
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Hydronephrosis, Renal dysplasia OMIM:300968
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Recurrent urinary tract infections, Hypoplasia of penis, Abnormality of the kidney, Hydronephrosis ORPHA:847
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract ORPHA:2995
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Hydronephrosis, Horseshoe kidney, Renal hypoplasia/aplasia ORPHA:2092
Basel-Vanagaite-Smirin-Yosef Syndrome
Male urethral meatus stenosis, Hydronephrosis, Hypospadias ORPHA:464738
Teebi-Shaltout Syndrome
Ureteral stenosis, Hydronephrosis, Horseshoe kidney OMIM:272950
Mosaic Trisomy 8
Vesicoureteral reflux, Hydronephrosis ORPHA:96061
Chondrodysplasia Punctata 2, X-Linked Dominant
Hydronephrosis OMIM:302960
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis ORPHA:464306
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me... OMIM:604292
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydroureter, Hypertrophy of the urinary bladder, Unilateral renal dysplasia, Congenital megaurete... ORPHA:280633
Cardiofaciocutaneous Syndrome 1
Hydronephrosis OMIM:115150
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Vesicoureteral reflux, Abnormal bladder morphology, Hydronephrosis ORPHA:453499
Thakker-Donnai Syndrome
Hydronephrosis ORPHA:1780
Autosomal Recessive Spastic Paraplegia Type 20
Hydronephrosis, Dysuria ORPHA:101000
Frontometaphyseal Dysplasia 1
Hydroureter, Hydronephrosis OMIM:305620
Stromme Syndrome
Bilateral renal hypoplasia, Hydronephrosis OMIM:243605
Congenital Disorder Of Glycosylation, Type It
Hydronephrosis OMIM:614921
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydronephrosis OMIM:618653
Au-Kline Syndrome
Vesicoureteral reflux, Chronic kidney disease, Dilatation of the renal pelvis, Hydronephrosis OMIM:616580
1Q21.1 Microdeletion Syndrome
Vesicoureteral reflux, Hydronephrosis ORPHA:250989
7Q11.23 Microduplication Syndrome
Enuresis, Hypospadias, Hydronephrosis, Unilateral renal agenesis ORPHA:96121
Campomelic Dysplasia
Hydronephrosis ORPHA:140
Otopalatodigital Syndrome Type 2
Hydronephrosis, Hypospadias, Ureteral obstruction ORPHA:90652
Gabriele-De Vries Syndrome
Ureteropelvic junction obstruction, Hydronephrosis OMIM:617557
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Hydronephrosis ORPHA:254528
Cockayne Syndrome Type 3
Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Renal hypoplasia... ORPHA:90324
Alg9-Cdg
Hypoplasia of the bladder, Ureteral hypoplasia, Abnormal renal artery morphology, Hydronephrosis,... ORPHA:79328
Cardiofaciocutaneous Syndrome
Hydronephrosis ORPHA:1340
Robinow Syndrome, Autosomal Recessive 1
Nephrolithiasis, Nephrocalcinosis, Micropenis, Hydronephrosis, Renal duplication OMIM:268310
Eec Syndrome
Hypospadias, Renal hypoplasia/aplasia, Urethral atresia, Vesicoureteral reflux, Hydronephrosis ORPHA:1896
Raine Syndrome
Hydroureter, Hydronephrosis OMIM:259775
Cerebellar-Facial-Dental Syndrome
Ureteropelvic junction obstruction, Hydronephrosis ORPHA:444072
Trisomy 18
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:3380
Erdheim-Chester Disease
Hydronephrosis, Renal insufficiency, Dysuria ORPHA:35687
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Duplicated collecting system, Hydroureter, Renal agenesis, Hydronephrosis, Bladder diverticulum, ... OMIM:129900
Opitz Gbbb Syndrome
Vesicoureteral reflux, Abnormality of the urinary system, Hypospadias, Hydronephrosis ORPHA:2745
Distal Deletion 12Q
Ectopic kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Micropenis, Hydronephrosis ORPHA:96149
White-Kernohan Syndrome
Hydroureter, Hydronephrosis, Horseshoe kidney OMIM:619426
Trisomy 8P
Nephrocalcinosis, Fetal pyelectasis, Hydronephrosis, Micropenis ORPHA:264450
Dubowitz Syndrome
Hypospadias, Hydronephrosis ORPHA:235
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Abnorma... ORPHA:818
Congenital Alveolar Capillary Dysplasia
Hydronephrosis ORPHA:210122
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Hydronephrosis OMIM:271520
Tarp Syndrome
Hydronephrosis, Horseshoe kidney ORPHA:2886
Cousin Syndrome
Hydronephrosis OMIM:260660
Holoprosencephaly 3
Hydronephrosis OMIM:142945
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Renal agenesis, Un... OMIM:270400
Apert Syndrome
Hydronephrosis OMIM:101200
Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Hematuria, Hydronephrosis ORPHA:900
Intellectual Developmental Disorder, Autosomal Dominant 42
Hydronephrosis, Ureteropelvic junction obstruction, Neurogenic bladder OMIM:616973
Vater/Vacterl Association
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Patent urachus, Vesicoureteral refl... OMIM:192350
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... ORPHA:373
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hydronephrosis, Unilateral renal agenesis OMIM:308050
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Hydronephrosis OMIM:619269
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hydronephrosis ORPHA:1507
Schinzel-Giedion Midface Retraction Syndrome
Ureteral stenosis, Hypospadias, Hydroureter, Micropenis, Hydronephrosis OMIM:269150
Craniofacioskeletal Syndrome
Hypospadias, Hydronephrosis OMIM:300712
Fryns Syndrome
Ureteral duplication, Renal agenesis, Hypospadias, Renal cyst, Hydronephrosis OMIM:229850
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent urinary tract infections, Hypospadias, Fetal pyelectasis, Vesicoureteral reflux, Hydron... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent urinary tract infections, Hypospadias, Fetal pyelectasis, Vesicoureteral reflux, Hydron... ORPHA:363958
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Hydronephrosis, Unilateral renal agenesis ORPHA:487796
Osteopetrosis With Renal Tubular Acidosis
Nephrolithiasis, Proximal renal tubular acidosis, Renal tubular acidosis, Distal renal tubular ac... ORPHA:2785
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hydronephrosis ORPHA:2750
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Micropenis, Hypospadias, Hydronephrosis ORPHA:163979
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Duplicated collecting system, Ureteropelvic junction obstruction, Hydronephrosis OMIM:280000
Cutis Laxa, Autosomal Recessive, Type Ic
Hydronephrosis, Multiple bladder diverticula OMIM:613177
Hardikar Syndrome
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... OMIM:301068
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent urinary tract infections, Hydronephrosis, Urachus fistula OMIM:612541
Floating-Harbor Syndrome
Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, Rena... ORPHA:2044
Schinzel-Giedion Syndrome
Hypospadias, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Micropenis, Nephroblastoma, ... ORPHA:798
Frontometaphyseal Dysplasia
Hydronephrosis, Urethral stenosis, Ureteral obstruction ORPHA:1826
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Vesicoureteral reflux, Hydronephrosis ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Vesicoureteral reflux, Hydronephrosis ORPHA:352665
Nijmegen Breakage Syndrome
Recurrent urinary tract infections, Hydronephrosis OMIM:251260
Occipital Horn Syndrome
Hydronephrosis, Bladder diverticulum, Ureteral obstruction OMIM:304150
Robinow Syndrome
Webbed penis, Micropenis, Multicystic kidney dysplasia, Hydronephrosis ORPHA:97360
Jacobsen Syndrome
Multicystic kidney dysplasia, Hydronephrosis ORPHA:2308
Chime Syndrome
Hydronephrosis, Abnormality of the kidney ORPHA:3474
3Mc Syndrome 1
Hydronephrosis OMIM:257920
Knobloch Syndrome 1
Duplicated collecting system, Bifid ureter, Hydronephrosis, Renal duplication OMIM:267750
Split Cord Malformation
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... ORPHA:573278
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Grade III vesicoureteral r... OMIM:619522
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Hypospadias, Dilatation of the renal pelvis, Dilatation of the bladder, Hydronephrosis OMIM:265380
Melnick-Needles Syndrome
Ureteral stenosis, Hydronephrosis OMIM:309350
Arboleda-Tham Syndrome
Recurrent urinary tract infections, Hydronephrosis OMIM:616268
Monosomy 22Q13.3
Vesicoureteral reflux, Recurrent pyelonephritis, Renal dysplasia, Hydronephrosis ORPHA:48652
Ileal Neuroendocrine Tumor
Hydronephrosis ORPHA:100078
Tetrasomy 9P
Renal dysplasia, Recurrent urinary tract infections, Horseshoe kidney, Multiple renal cysts, Micr... ORPHA:3310
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2636
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Renal cyst, Hydronephrosis ORPHA:1606
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent urinary tract infections, Hypospadias, Nephrolithiasis, Abnormality of the urinary syst... ORPHA:353281
Campomelic Dysplasia
Hypospadias, Hydronephrosis OMIM:114290
Cardiac Valvular Dysplasia 1
Urethral diverticulum, Hydroureter, Hydronephrosis OMIM:212093
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Micropenis, Multicystic kidney dysplasia, Hydronephrosis OMIM:615287
Charge Syndrome
Vesicoureteral reflux, Micropenis, Hydronephrosis, Horseshoe kidney ORPHA:138
Rubinstein-Taybi Syndrome 1
Hypospadias, Hydronephrosis OMIM:180849
Floating-Harbor Syndrome
Hypospadias, Glandular hypospadias, Nephrocalcinosis, Congenital posterior urethral valve, Hydron... OMIM:136140
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Nephrotic syndrome, Hydronephrosis OMIM:601776
Okamoto Syndrome
Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Urinary incontinence, Hydronephr... ORPHA:2729
Mesomelia-Synostoses Syndrome
Hydronephrosis OMIM:600383
Coffin-Siris Syndrome 1
Hydroureter, Hypospadias, Ectopic kidney, Renal hypoplasia, Hydronephrosis OMIM:135900
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Hydron... ORPHA:709
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Nephrolithiasis, Abno... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Nephrolithiasis, Abno... ORPHA:353277
Gabriele-De Vries Syndrome
Ureteropelvic junction obstruction, Hydronephrosis ORPHA:506358
Focal Dermal Hypoplasia
Ureteral duplication, Bifid ureter, Hydronephrosis, Horseshoe kidney OMIM:305600
Robinow Syndrome, Autosomal Dominant 1
Micropenis, Hydronephrosis, Renal duplication OMIM:180700
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Micropenis, Hydronephrosis ORPHA:83617
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hydronephrosis, Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract ORPHA:2273
Doors Syndrome
Nephrocalcinosis, Abnormality of the urinary system, Hydronephrosis, Increased urine alpha-ketogl... ORPHA:79500
Lacrimoauriculodentodigital Syndrome
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis ORPHA:2363
Wiedemann-Rautenstrauch Syndrome
Recurrent urinary tract infections, Hypospadias, Wide penis, Vesicoureteral reflux, Dilatation of... ORPHA:3455
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Abnormal renal morphology, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:363700
Liver Disease, Severe Congenital
Recurrent urinary tract infections, Hypospadias, Aminoaciduria, Alpha-aminobutyric aciduria, Hype... OMIM:619991
Kabuki Syndrome 1
Ureteropelvic junction obstruction, Micropenis, Crossed fused renal ectopia, Hydronephrosis OMIM:147920
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Renal cyst, Duplication of renal pelvis, Nephroblastoma, Hydronephrosis, Enlarged ki... OMIM:312870
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... ORPHA:821
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis ORPHA:93271
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Vesicoureteral reflux, Nephrolithiasis, Hydronephrosis ORPHA:438213
Digeorge Syndrome
Renal dysplasia, Renal insufficiency, Hydronephrosis, Unilateral renal agenesis OMIM:188400
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Renal insufficiency, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, ... OMIM:619534
Osteogenesis Imperfecta, Type Vii
Hydronephrosis OMIM:610682
Charge Syndrome
Renal agenesis, Renal hypoplasia, Horseshoe kidney, Micropenis, Hydronephrosis OMIM:214800
Peters-Plus Syndrome
Hydronephrosis, Ureteral duplication, Hypospadias, Renal hypoplasia OMIM:261540
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hydronephrosis OMIM:620330
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hydronephrosis, Renal dysplasia ORPHA:480880
Mowat-Wilson Syndrome
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Chord... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Chordee, Vesicoureteral reflux, ... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Duplication of renal pelvis, Cho... ORPHA:261552
Genitopatellar Syndrome
Micropenis, Multicystic kidney dysplasia, Hydronephrosis OMIM:606170
Hydrolethalus Syndrome 1
Hypospadias, Hydronephrosis OMIM:236680
Otopalatodigital Syndrome, Type Ii
Hypospadias, Hydronephrosis OMIM:304120
Viss Syndrome
Hydronephrosis OMIM:619472
Johanson-Blizzard Syndrome
Micropenis, Hypospadias, Hydronephrosis, Urethrovaginal fistula OMIM:243800

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 Impa2

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 Impa2.

No publications found that use IMPC mice or data for Impa2.

Order Mouse and ES Cells

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
Impa2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Impa2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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