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Gene: Pnkp MGI:1891698

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Gene Summary

Name:
polynucleotide kinase 3'- phosphatase
Synonyms:
PNK,  1810009G08Rik

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
microphthalmia Pnkpem1(IMPC)Mbp HET Early adult 0.00
abnormal skin morphology Pnkpem1(IMPC)Mbp HET Early adult 0.00
single kidney Pnkpem1(IMPC)Mbp HET Early adult 0.00
embryonic lethality prior to organogenesis Pnkpem1(IMPC)Mbp HOM   E9.5 0.00
abnormal eye morphology Pnkpem1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Pnkpem1(IMPC)Mbp HOM   Early adult 0.00
enlarged kidney Pnkpem1(IMPC)Mbp HET Early adult 0.00
abnormal kidney morphology Pnkpem1(IMPC)Mbp HET Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

2 Images

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Human diseases caused by Pnkp 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.

The table below shows human diseases associated to Pnkp by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Microcephaly, Simplified gyral pattern, Hypoplasia of the corpus callosum, Pr... OMIM:613402
Ataxia-Oculomotor Apraxia 4
Cerebellar atrophy OMIM:616267
Early Infantile Epileptic Encephalopathy
Cerebellar atrophy, Diffuse cerebral atrophy, Microcephaly, Diffuse white matter abnormalities, H... ORPHA:1934
Ataxia-Oculomotor Apraxia Type 4
ORPHA:459033
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
OMIM:605589

The table below shows human diseases predicted to be associated to Pnkp by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage, Microcephaly OMIM:278780
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... OMIM:613496
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Aniridia, Unilateral renal agenesis OMIM:206750
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Cryptorchidism, Unilateral Or Bilateral
Renal agenesis OMIM:219050
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Meckel Syndrome, Type 8
Anophthalmia, Polycystic kidney dysplasia, Microphthalmia, Hyperechogenic kidneys, Enlarged kidney OMIM:613885
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability, Microcephaly OMIM:620153
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis OMIM:618845
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... OMIM:619902
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Intellectual Developmental Disorder, Autosomal Recessive 71
Micropenis, Unilateral renal agenesis, Abnormally large globe OMIM:618504
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Unilateral renal agenesis ORPHA:2512
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Hepatomegaly, Enlarged kidney OMIM:615285
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis OMIM:617661
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Radial-Renal Syndrome
Unilateral renal agenesis, Ectopic kidney OMIM:179280
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... OMIM:602088
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Microcephaly, Simplified gyral pattern, Hypoplasia of the corpus callosum, Pr... OMIM:613402
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... ORPHA:85445
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Renal agenesis, Unilateral renal agenesis, Ectopic kidney OMIM:601076
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Gombo Syndrome
Microphthalmia OMIM:233270
Xeroderma Pigmentosum, Complementation Group F
Deficient excision of UV-induced pyrimidine dimers in DNA, Aplasia/Hypoplasia involving the centr... OMIM:278760
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis OMIM:601355
Bladder Exstrophy And Epispadias Complex
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy OMIM:600057
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia OMIM:236110
Vesicoureteral Reflux 2
Vesicoureteral reflux, Renal hypoplasia OMIM:610878
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... ORPHA:2260
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability, Microcephaly OMIM:600546
Cat-Eye Syndrome
Microphthalmia, Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:195
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis ORPHA:281090
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Hydronephrosis, Microphthalmia, Renal hypoplasia, Unilateral renal agenesis OMIM:618494
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Hepatomegaly ORPHA:2432
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... ORPHA:411709
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Micropenis, Crossed fused renal ectopia, Unilateral renal agenesis OMIM:618142
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:244200
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Microphthalmia OMIM:120433
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Burn-Mckeown Syndrome
Renal hypoplasia, Unilateral renal agenesis OMIM:608572
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Fraser Syndrome 2
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl... OMIM:617666
Mayer-Rokitansky-Küster-Hauser Syndrome
Horseshoe kidney, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney ORPHA:3109
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... ORPHA:730
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Chopra-Amiel-Gordon Syndrome
Unilateral renal agenesis OMIM:619504
Beaulieu-Boycott-Innes Syndrome
Recurrent urinary tract infections, Unilateral renal agenesis, Horseshoe kidney OMIM:613680
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis OMIM:274265
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Unilateral renal agenesis ORPHA:1064
Nanophthalmos
Microphthalmia ORPHA:35612
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, Unilateral renal agenesis OMIM:609757
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Microphthalmia, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Coach Syndrome 1
Hepatomegaly, Unilateral renal agenesis, Splenomegaly, Multiple small medullary renal cysts, Stag... OMIM:216360
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis ORPHA:3306
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
Braddock Syndrome
Unilateral renal agenesis ORPHA:52047
Nanophthalmos 4
Microphthalmia OMIM:615972
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Hogue-Janssen Syndrome 2
Unilateral renal agenesis OMIM:616362
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Unilateral renal agenesis, Splenomegaly, Proximal tubulopathy, Hyperechogenic kidneys OMIM:614576
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Abnormality of the blad... ORPHA:2547
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormality of the kidney, Unilateral renal agenesis OMIM:118100
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Uraciluria OMIM:274270
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Microcephaly OMIM:614082
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Kallmann Syndrome With Spastic Paraplegia
Micropenis, Unilateral renal agenesis OMIM:308750
Biemond Syndrome Type 2
Microphthalmia, Hypospadias ORPHA:141333
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Branchiootorenal Syndrome 1
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... OMIM:113650
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Joubert Syndrome 22
Microphthalmia, Renal hypoplasia OMIM:615665
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen... ORPHA:363444
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Ehlers-Danlos Syndrome, Classic-Like
Vesicoureteral reflux, Unilateral renal agenesis OMIM:606408
Emanuel Syndrome
Recurrent urinary tract infections, Micropenis, Renal hypoplasia, Unilateral renal agenesis OMIM:609029
Diamond-Blackfan Anemia 11
Unilateral renal agenesis OMIM:614900
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Ketonuria, Renal hypoplasia, Hepatomegaly OMIM:619053
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney OMIM:608022
De Sanctis-Cacchione Syndrome
Microcephaly, Basal ganglia calcification, Defective DNA repair after ultraviolet radiation damag... OMIM:278800
Seckel Syndrome 2
Microphthalmia, Hypospadias, Ectopic kidney OMIM:606744
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Microphtha... OMIM:617914
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... OMIM:614377
Sacral Agenesis With Vertebral Anomalies
Unilateral renal agenesis, Persistent cloaca OMIM:615709
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:615415
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Renal insufficiency, Hepatomegaly, Long-chain dicarboxylic aciduria, Cardio... OMIM:608836
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Focal segmental glomerulosclerosis, ... OMIM:617303
Emanuel Syndrome
Micropenis, Renal hypoplasia, Unilateral renal agenesis ORPHA:96170
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:308700
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Vesicoureteral reflux, Micropenis, Unilateral renal agenesis OMIM:619951
Bresek Syndrome
Hypoplasia of the bladder, Optic nerve hypoplasia, Renal hypoplasia, Vesicoureteral reflux, Micro... ORPHA:85284
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Renal agenesis, Unilateral renal agenesis OMIM:619227
Xeroderma Pigmentosum, Complementation Group A
Defective DNA repair after ultraviolet radiation damage, Microcephaly OMIM:278700
Shashi-Pena Syndrome
Unilateral renal agenesis OMIM:617190
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria ORPHA:251004
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney OMIM:619318
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Short Stature, Microcephaly, And Endocrine Dysfunction
Micropenis, Renal hypoplasia, Unilateral renal agenesis, Ectopic kidney OMIM:616541
Crome Syndrome
Microcephaly, Renal tubular epithelial necrosis, Cerebellar dysplasia OMIM:218900
Nager Syndrome
Unilateral renal agenesis ORPHA:245
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Mmep Syndrome
Microphthalmia ORPHA:3434
Bifid Nose With Or Without Anorectal And Renal Anomalies
Renal agenesis, Unilateral renal agenesis OMIM:608980
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... OMIM:194080
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis OMIM:158330
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Hematuria, Microphthalmia ORPHA:1473
Xeroderma Pigmentosum, Complementation Group D
Defective DNA repair after ultraviolet radiation damage, Microcephaly OMIM:278730
Schizophrenia 1
Partially duplicated kidney, Renal agenesis, Ectopic kidney OMIM:181510
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomeru... OMIM:232200
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis OMIM:616603
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Fanconi Anemia, Complementation Group L
Microphthalmia, Micropenis, Renal hypoplasia, Unilateral renal agenesis OMIM:614083
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Matthew-Wood Syndrome
Anophthalmia, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Microphthalmia ORPHA:2470
Xeroderma Pigmentosum, Complementation Group E
Defective DNA repair after ultraviolet radiation damage OMIM:278740
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Focal segmental glomerulosclerosis, Dec... OMIM:232220
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Polycystic kidney dysplasia, Vesi... ORPHA:2237
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal insufficiency, Splenomegaly, Stage 5 chronic kidney disease, Ureteral atresia... OMIM:208540
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil... OMIM:614527
Takenouchi-Kosaki Syndrome
Hypospadias, Hydronephrosis, Unilateral renal agenesis OMIM:616737
Meckel Syndrome, Type 5
Microphthalmia, Renal cyst OMIM:611561
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Methylmalonic Acidemia With Homocystinuria Type Cblf
Methylmalonic aciduria, Unilateral renal agenesis ORPHA:79284
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis OMIM:618188
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl... OMIM:600901
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Cockayne Syndrome Type 3
Hepatomegaly, Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Sp... ORPHA:90324
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypospadias, Optic nerve hypoplasia, Unilateral renal agenesis, Bilateral microphthalmos, Microph... ORPHA:468631
Fanconi Anemia, Complementation Group A
Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl... OMIM:227650
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Xfe Progeroid Syndrome
Defective DNA repair after ultraviolet radiation damage, Microcephaly OMIM:610965
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage OMIM:278720
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Pierpont Syndrome
Microphthalmia, Micropenis OMIM:602342
Tyrosinemia, Type I
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Glomer... OMIM:276700
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent urinary tract infections, Optic nerve hypoplasia, Unilateral renal agenesis ORPHA:221139
Trichothiodystrophy
Cerebral dysmyelination, Microcephaly, Partial agenesis of the corpus callosum, Defective DNA rep... ORPHA:33364
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:200995
Cofs Syndrome
Microphthalmia ORPHA:1466
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia OMIM:613091
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis ORPHA:464311
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Micropenis OMIM:308350
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... OMIM:130650
Lymphoid Interstitial Pneumonia
Hepatomegaly, Enlarged kidney ORPHA:79128
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Congenital Toxoplasmosis
Hepatomegaly, Microphthalmia, Cardiomegaly ORPHA:858
Kaposiform Lymphangiomatosis
Splenomegaly, Multiple renal cysts, Enlarged kidney, Hepatosplenomegaly ORPHA:464329
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Nephroblastoma OMIM:602501
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Fanconi Anemia, Complementation Group C
Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl... OMIM:227645
Fanconi Anemia, Complementation Group D2
Microcephaly, Patent ductus arteriosus, Hypoplasia of the corpus callosum, Deficient excision of ... OMIM:227646
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Abnormal renal morphology, Renal hypoplasia, Horseshoe kidney, Vesicouret... OMIM:609053
Joubert Syndrome 37
Microphthalmia, Micropenis, Hydronephrosis, Hepatomegaly OMIM:619185
H Syndrome
Micropenis, Abnormality of the kidney, Enlarged kidney, Hepatosplenomegaly ORPHA:168569
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis ORPHA:464306
Endocrine-Cerebroosteodysplasia
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney OMIM:612651
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Ring Chromosome 10 Syndrome
Microphthalmia, Renal hypoplasia/aplasia ORPHA:1438
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hypoplasia of the iris, Bilateral renal agenesis, Unilateral renal agenesis, Hydroureter OMIM:619194
Igg4-Related Kidney Disease
Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urinary bladder inf... ORPHA:449395
Trisomy 13
Anophthalmia, Displacement of the urethral meatus, Abnormality of the ureter, Aplasia/Hypoplasia ... ORPHA:3378
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Nephrotic syndrome, Heavy pr... ORPHA:505248
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis OMIM:101800
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Pierpont Syndrome
Microphthalmia ORPHA:487825
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
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma, Renal hypoplasia OMIM:618914
Cockayne Syndrome
Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilate... ORPHA:191
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Meckel Syndrome, Type 2
Microphthalmia, Renal cyst OMIM:603194
Proboscis Lateralis
Anophthalmia, Optic nerve hypoplasia, Unilateral renal agenesis, Ureteral agenesis, Duplication o... ORPHA:141099
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis ORPHA:2673
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney ORPHA:276280
Fanconi Anemia, Complementation Group R
Microphthalmia, Pelvic kidney OMIM:617244
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Alg9-Cdg
Hypoplasia of the bladder, Hepatomegaly, Ureteral hypoplasia, Abnormal renal artery morphology, H... ORPHA:79328
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Unilateral renal agenesis OMIM:620024
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Duplicated collecting system, Hepatomegaly, Hypospadias, Rena... OMIM:270400
Ventriculomegaly With Defects Of The Radius And Kidney
Ureteral duplication, Renal agenesis, Horseshoe kidney, Ectopic kidney OMIM:602200
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Unilateral renal agenesis ORPHA:457284
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypospadias, Unilateral renal agenesis, Enlarged polycystic ovaries, Dilatation of the renal pelv... ORPHA:95699
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Proteinuria, Nephrolithiasis, Stage 5 chronic kidney disease, Nephrocalcinosis, Enl... ORPHA:79259
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Micropenis OMIM:610756
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Methylmalonic aciduria, Elevated urinary aminoisobutyric ... OMIM:614105
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hydronephrosis, Unilateral renal agenesis OMIM:308050
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Splenomegaly, Hepatomegaly ORPHA:290
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Enlarged kidney OMIM:252500
Autosomal Recessive Polycystic Kidney Disease
Recurrent urinary tract infections, Renal insufficiency, Splenomegaly, Oliguria, Stage 5 chronic ... ORPHA:731
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Renal hypoplasia, Unilateral renal agenesis, Pyelonephritis OMIM:181270
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Unilateral renal agenesis OMIM:213980
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Hepatomegaly OMIM:618805
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Hydronephrosis, Unilateral renal agenesis ORPHA:487796
Myoectodermal Gonadal Dysgenesis Syndrome
Unilateral renal agenesis OMIM:618419
Meckel Syndrome, Type 4
Microphthalmia, Renal cyst OMIM:611134
Microphthalmia, Syndromic 5
Microphthalmia, Micropenis, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia, Vesicoureteral reflux OMIM:120200
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney ORPHA:500095
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
8Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Unilateral renal agenesis, Abnormality of the kidney, Bilateral microphth... ORPHA:508488
Lissencephaly 8
Microphthalmia OMIM:617255
Temtamy Syndrome
Microphthalmia ORPHA:1777
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Hypoplasia of penis, Anophthalmia, Hypospadias ORPHA:77298
Beckwith-Wiedemann Syndrome
Ureteral duplication, Hepatomegaly, Cardiomegaly, Splenomegaly, Nephrolithiasis, Hypercalciuria, ... ORPHA:116
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia OMIM:615181
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Leopard Syndrome 1
Micropenis, Hypospadias, Unilateral renal agenesis OMIM:151100
Meacham Syndrome
Enlarged kidney, Horseshoe kidney OMIM:608978
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Microphthalmia OMIM:613153
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
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Duane-Radial Ray Syndrome
Renal malrotation, Optic disc hypoplasia, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Ves... OMIM:607323
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomegaly OMIM:261740
Marden-Walker Syndrome
Microphthalmia, Micropenis, Hypospadias, Renal hypoplasia OMIM:248700
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Unilateral microphthalmos OMIM:615085
Congenital Fibrinogen Deficiency
Left ventricular hypertrophy, Microphthalmia, Micropenis, Right ventricular hypertrophy ORPHA:335
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Renal agenesis, Cardiomegaly, Horseshoe kidney, Enlarged kidney OMIM:306955
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Zttk Syndrome
Polyuria, Unilateral renal agenesis, Horseshoe kidney OMIM:617140
Rere-Related Neurodevelopmental Syndrome
Vesicoureteral reflux, Microphthalmia, Hypospadias ORPHA:494344
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Cardiomegaly OMIM:618652
Leprechaunism
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged kidney ORPHA:508
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia, Pelvic kidney, Hydronephrosis OMIM:613001
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Enlarged kidney, Enuresis nocturna OMIM:615873
Fanconi Anemia, Complementation Group F
Renal hypoplasia, Microphallus, Vesicoureteral reflux, Microphthalmia, Pelvic kidney OMIM:603467
Acrofacial Dysostosis 1, Nager Type
Unilateral renal agenesis OMIM:154400
Ogden Syndrome
Global glomerulosclerosis, Polycystic kidney dysplasia, Enlarged kidney, Cardiomegaly OMIM:300855
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Microphthalmia, Hydronephrosis ORPHA:568
Refsum Disease
Splenomegaly, Microphthalmia, Renal insufficiency ORPHA:773
Gracile Bone Dysplasia
Aniridia, Microphthalmia, Micropenis OMIM:602361
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia, Oligosacchariduria ORPHA:163649
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Moebius Syndrome
Microphthalmia, Micropenis OMIM:157900
Distal 22Q11.2 Microduplication Syndrome
Unilateral renal agenesis ORPHA:261337
Micro Syndrome
Microphthalmia, Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney ORPHA:2510
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Baraitser-Winter Syndrome 1
Microphthalmia, Micropenis OMIM:243310
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Pseudotrisomy 13 Syndrome
Microphthalmia, Micropenis, Renal agenesis, Renal hypoplasia OMIM:264480
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia, Proteinuria, Multiple bladder diverticula ORPHA:2728
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Renal hypoplasia/aplasi... ORPHA:2538
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Autosomal Dominant Cutis Laxa
Bladder diverticulum, Unilateral renal agenesis, Pyelonephritis ORPHA:90348
Stevenson-Carey Syndrome
Microphthalmia, Recurrent urinary tract infections OMIM:611961
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia, Multicystic kidney dysplasia ORPHA:3301
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Joubert Syndrome 14
Microphthalmia, Renal cyst OMIM:614424
Pallister-Hall Syndrome
Hypospadias, Unilateral renal agenesis, Ectopic kidney, Bilateral renal agenesis, Microphthalmia,... ORPHA:672
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Warburg Micro Syndrome 4
Microphthalmia, Micropenis OMIM:615663
Kapur-Toriello Syndrome
Microphthalmia, Hypoplasia of penis ORPHA:2328
Stromme Syndrome
Hydronephrosis, Microphthalmia, Bilateral renal hypoplasia, Optic nerve hypoplasia OMIM:243605
Cat Eye Syndrome
Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Microphthalmia, Hydronephrosis OMIM:115470
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Hypospadias, Hydronephrosis OMIM:616449
Pierson Syndrome
Diffuse mesangial sclerosis, Rieger anomaly, Hypoplasia of the ciliary body, Proteinuria, Stage 5... OMIM:609049
Acro-Renal-Ocular Syndrome
Renal malrotation, Optic disc hypoplasia, Renal hypoplasia/aplasia, Horseshoe kidney, Bladder div... ORPHA:959
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Pallister-Hall Syndrome
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Rena... OMIM:146510
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Bilateral renal dysplasia, Optic nerve hypoplasia, Unilateral renal agenesis, Horseshoe kidney ORPHA:500150
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glo... OMIM:617729
Microphthalmia, Syndromic 9
Renal malrotation, Anophthalmia, Bilateral microphthalmos, Renal hypoplasia, Horseshoe kidney, Pe... OMIM:601186
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Horseshoe kidney, Multiple renal cysts, Microphthalmia, Hyd... ORPHA:99776
Joubert Syndrome 2
Microphthalmia, Renal insufficiency, Renal cyst, Nephronophthisis OMIM:608091
Warburg Micro Syndrome 3
Microphthalmia, Micropenis OMIM:614222
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia, Hydronephrosis ORPHA:35173
3Q29 Microdeletion Syndrome
Microphthalmia, Hypospadias, Horseshoe kidney ORPHA:65286
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia, Renal agenesis, Renal hypoplasia/aplasia ORPHA:3412
Monosomy 18P
Microphthalmia ORPHA:1598
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Unilateral renal agenesis, Hepatosplenomegaly, Urinary urgency, Micropenis, Pelvic kidney OMIM:619503
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Digeorge Syndrome
Renal insufficiency, Unilateral renal agenesis, Splenomegaly, Hydronephrosis, Renal dysplasia OMIM:188400
Mosaic Trisomy 1
Renal cortical cysts, Renal cyst, Microphthalmia, Micropenis, Penile hypospadias ORPHA:1692
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Renal dyspl... OMIM:308205
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Renal dysplasia OMIM:618571
Walker-Warburg Syndrome
Microphthalmia, Hypoplasia of penis, Anophthalmia ORPHA:899
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Optic nerve hypoplasia ORPHA:370959
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Hypospadias ORPHA:2505
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Temtamy Syndrome
Microphthalmia OMIM:218340
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Vesicoureteral reflux, Microphthalmia, Hydronephrosis ORPHA:2059
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia, Micropenis OMIM:241410
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Hypoplasia of the iris, Nephrotic ... OMIM:251300
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Cardiac-Urogenital Syndrome
Enlarged kidney, Micropenis, Penoscrotal hypospadias, Patent urachus OMIM:618280
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Hypospadias, Splenomegaly, Renal cyst, Duplication of renal pelvis, Nephroblastoma,... OMIM:312870
Kapur-Toriello Syndrome
Microphthalmia, Micropenis, Abnormality of the urinary system OMIM:244300
Teebi-Shaltout Syndrome
Microphthalmia, Ureteral stenosis, Hydronephrosis, Horseshoe kidney OMIM:272950
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Warburg Micro Syndrome 2
Microphthalmia, Micropenis OMIM:614225
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Horseshoe kidney, Hypoplasia of the iris,... ORPHA:2092
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Rodrigues Blindness
Microphthalmia OMIM:268320
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia, Hydronephrosis OMIM:302960
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia, Hypospadias OMIM:615877
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Chromosome 13Q33-Q34 Deletion Syndrome
Left ventricular hypertrophy, Microphthalmia, Penoscrotal transposition, Hypospadias OMIM:619148
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Abnormal localization of kidney, Micr... ORPHA:2166
Meckel Syndrome 14
Microphthalmia, Polycystic kidney dysplasia OMIM:619879
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia, Renal hypoplasia, Renal cyst OMIM:616300
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
1Q21.1 Microdeletion Syndrome
Vesicoureteral reflux, Microphthalmia, Hydronephrosis ORPHA:250989
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Male urethral meatus stenosis, Hydronephrosis, Hypospadias ORPHA:464738
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Trichothiodystrophy 3, Photosensitive
Microphthalmia OMIM:616395
Martsolf Syndrome 1
Microphthalmia, Micropenis OMIM:212720
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Mycophenolate Mofetil Embryopathy
Microphthalmia, Ectopic kidney ORPHA:268249
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypospadias, Optic nerve hypoplasia, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Micropht... ORPHA:508498
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos ORPHA:369891
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos ORPHA:2399
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
8Q21.11 Microdeletion Syndrome
Microphthalmia, Hypoplasia of penis ORPHA:284160
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Hypospadias, Optic nerve hypoplasia, Microphthalmia, Micropenis OMIM:206900
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia, Micropenis OMIM:614230
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos, Hydronephrosis ORPHA:2839
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Histiocytoid Cardiomyopathy
Hepatomegaly, Cardiomegaly, Renal cyst, Microphthalmia, Congenital aphakia ORPHA:137675
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Hypoplasia of penis, Anophthalmia ORPHA:2250
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Unilateral microphthalmos OMIM:618874
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Cousin Syndrome
Microphthalmia, Hydronephrosis OMIM:260660
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Meckel Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Aplasia/Hypoplasia of the iris,... ORPHA:564
Trisomy 18
Microphthalmia, Hydronephrosis, Abnormality of the upper urinary tract ORPHA:3380
Oculocerebrorenal Syndrome Of Lowe
Glomerulopathy, Renal insufficiency, Proteinuria, Proximal renal tubular acidosis, Nephrolithiasi... ORPHA:534
Tetraamelia Syndrome 1
Microphthalmia, Renal agenesis, Urethral atresia OMIM:273395
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Microphthalmia, Renal dysplasia, Optic nerve hypoplasia OMIM:236670
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Fryns Syndrome
Ureteral duplication, Hypospadias, Renal agenesis, Renal cyst, Microphthalmia, Hydronephrosis OMIM:229850
Steinfeld Syndrome
Microphthalmia, Unilateral renal dysplasia OMIM:184705
Ohdo Syndrome, X-Linked
Microphthalmia, Micropenis OMIM:300895
Ritscher-Schinzel Syndrome 3
Microphthalmia OMIM:619135
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
D-2-hydroxyglutaric aciduria, Unilateral renal agenesis ORPHA:99646
Fanconi Anemia
Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Renal hypoplas... ORPHA:84
Adams-Oliver Syndrome
Microphthalmia ORPHA:974
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:3186
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia ORPHA:91495
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Vesicoureteral reflux, Microphthalmia, Hypospadias, Renal cyst OMIM:616975
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia, Multicystic kidney dysplasia, Nephroblastoma ORPHA:1052
Meckel Syndrome, Type 1
Hypoplasia of the bladder, Renal agenesis, Splenomegaly, Abnormality of the ureter, Polycystic ki... OMIM:249000
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia, Micropenis, Chordee, Hypospadias OMIM:309801
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Degcags Syndrome
Hepatomegaly, Recurrent urinary tract infections, Hypospadias, Bilateral renal dysplasia, Abnorma... OMIM:619488
Jacobsen Syndrome
Microphthalmia, Macular hypoplasia, Hypospadias OMIM:147791
Holoprosencephaly
Hypoplasia of penis, Anophthalmia, Proteinuria, Abnormality of the urinary system, Microphthalmia ORPHA:2162
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia, Renal hypoplasia OMIM:620005
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi OMIM:221900
Frontonasal Dysplasia 2
Microphthalmia OMIM:613451
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Dubowitz Syndrome
Hypoplasia of the iris, Microphthalmia, Hypospadias OMIM:223370
Cockayne Syndrome B
Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Hypoplasia of the iris, Microphthal... OMIM:133540
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Cohen Syndrome
Microphthalmia ORPHA:193
Frontorhiny
Microphthalmia ORPHA:391474
Monosomy 9Q22.3
Microphthalmia, Nephroblastoma ORPHA:77301
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia, Horseshoe kidney ORPHA:1106
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia OMIM:253800
Bartsocas-Papas Syndrome 1
Microphthalmia, Micropenis, Ectopic kidney OMIM:263650
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia, Micropenis, Hypospadias, Horseshoe kidney OMIM:609945
Roberts Syndrome
Microphthalmia, Long penis, Polycystic kidney dysplasia ORPHA:3103
22Q11.2 Deletion Syndrome
Hypospadias, Splenomegaly, Renal hypoplasia, Multiple renal cysts, Polycystic kidney dysplasia, V... ORPHA:567
Fraser Syndrome
Hypoplasia of penis, Anophthalmia, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia, U... ORPHA:2052
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Optic nerve hypoplasia OMIM:614643
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ... OMIM:309000
Holoprosencephaly 9
Microphthalmia, Micropenis, Anophthalmia, Optic nerve hypoplasia OMIM:610829
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia, Micropenis, Hypospadias OMIM:603457
Premature Aging Syndrome, Penttinen Type
Microphthalmia OMIM:601812
Oculoauricular Syndrome
Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia OMIM:612109
Townes-Brocks Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,... ORPHA:857
Monosomy 9P
Microphthalmia, Ureteropelvic junction obstruction, Hypospadias ORPHA:261112
Oculodentodigital Dysplasia
Microphthalmia, Neurogenic bladder OMIM:164200
Renpenning Syndrome 1
Microphthalmia, Hypospadias, Renal hypoplasia, Phimosis OMIM:309500
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
2Q31.1 Microdeletion Syndrome
Microphthalmia ORPHA:251014
Phace Association
Microphthalmia, Optic nerve hypoplasia OMIM:606519
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia, Micropenis OMIM:617925
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia, Hypospadias, Ureterocele OMIM:616734
Charge Syndrome
Anophthalmia, Horseshoe kidney, Vesicoureteral reflux, Microphthalmia, Micropenis, Hydronephrosis ORPHA:138
Hallermann-Streiff Syndrome
Microphthalmia OMIM:234100
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Treacher-Collins Syndrome
Microphthalmia, Hypoplasia of penis ORPHA:861
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia, Homocystinuria OMIM:601552
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Atelis Syndrome 2
Microphthalmia OMIM:620185
Incontinentia Pigmenti
Microphthalmia ORPHA:464
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia OMIM:308300
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Anophthalmia, Hypospadias, Epispadias, Microphthalmia ORPHA:2556
Lymphedema-Distichiasis Syndrome
Microphthalmia OMIM:153400
Focal Dermal Hypoplasia
Ureteral duplication, Anophthalmia, Horseshoe kidney, Aniridia, Microphthalmia, Bifid ureter, Hyd... OMIM:305600
Ataxia-Oculomotor Apraxia 4
Cerebellar atrophy OMIM:616267
Yunis-Varon Syndrome
Hypospadias, Cardiomegaly, Bilateral microphthalmos, Renovascular hypertension, Renal artery sten... ORPHA:3472
Fraser Syndrome 1
Anophthalmia, Hypospadias, Renal hypoplasia/aplasia, Bilateral microphthalmos, Renal hypoplasia, ... OMIM:219000
Charge Syndrome
Anophthalmia, Renal agenesis, Unilateral microphthalmos, Horseshoe kidney, Renal hypoplasia, Micr... OMIM:214800
Isolated Arrhinia
Microphthalmia ORPHA:1134
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Basal Cell Nevus Syndrome 1
Microphthalmia OMIM:109400
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, Micropenis OMIM:613884
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Rothmund-Thomson Syndrome, Type 2
Microphthalmia OMIM:268400
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia ORPHA:2526
Microphthalmia, Syndromic 2
Microphthalmia, Phthisis bulbi, Anophthalmia, Hypospadias OMIM:300166
Hallermann-Streiff Syndrome
Microphthalmia ORPHA:2108
Hydrolethalus Syndrome 1
Microphthalmia, Hypospadias, Hydronephrosis OMIM:236680
Aicardi Syndrome
Microphthalmia ORPHA:50
Fontaine Progeroid Syndrome
Left ventricular hypertrophy, Microphthalmia, Micropenis OMIM:612289
Kenny-Caffey Syndrome, Type 2
Microphthalmia OMIM:127000
Holoprosencephaly 7
Microphthalmia, Bilateral microphthalmos OMIM:610828
Phace Syndrome
Microphthalmia, Lens coloboma, Optic nerve hypoplasia ORPHA:42775
Aicardi Syndrome
Microphthalmia OMIM:304050
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia, Renal hypoplasia OMIM:607932
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Microphthalmia, Right ventricular hypertrophy OMIM:620186
Branchiooculofacial Syndrome
Anophthalmia, Renal agenesis, Hypospadias, Renal cyst, Microphthalmia OMIM:113620
Holoprosencephaly 1
Microphthalmia, Micropenis OMIM:236100
Neu-Laxova Syndrome 1
Microphthalmia, Renal agenesis OMIM:256520
Mend Syndrome
Microphthalmia ORPHA:401973
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Phthisis bulbi OMIM:259770
Myhre Syndrome
Microphthalmia OMIM:139210
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Ectopic kidney, Vesicoureteral reflux... OMIM:164210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina OMIM:253280
Witteveen-Kolk Syndrome
Hypospadias, Phimosis, Male urethral meatus stenosis, Microphallus, Microphthalmia OMIM:613406
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia OMIM:608670
Monosomy 13Q14
Microphthalmia ORPHA:1587
Microphthalmia, Syndromic 1
Anophthalmia, Hypospadias, Hydroureter, Renal hypoplasia/aplasia, Renal hypoplasia, Microphthalmia OMIM:309800
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Webbed penis, Chordee, Vesicoure... ORPHA:261537
Mowat-Wilson Syndrome
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Webbed penis, Abnormality of the... ORPHA:2152
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Early Infantile Epileptic Encephalopathy
Cerebellar atrophy, Diffuse cerebral atrophy, Microcephaly, Diffuse white matter abnormalities, H... ORPHA:1934
Roberts-Sc Phocomelia Syndrome
Hypospadias, Long penis, Horseshoe kidney, Polycystic kidney dysplasia, Microphthalmia OMIM:268300
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Webbed penis, Duplication of ren... ORPHA:261552
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia OMIM:612474
Mowat-Wilson Syndrome
Microphthalmia, Hypospadias, Abnormality of the kidney OMIM:235730
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia ORPHA:306542
Neuroocular Syndrome
Hypoplasia of the fovea, Microphthalmia, Lens coloboma OMIM:619539
Adams-Oliver Syndrome 1
Microphthalmia OMIM:100300
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos ORPHA:93325
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:649
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia OMIM:175780
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Holoprosencephaly 2
Microphthalmia OMIM:157170
Ataxia-Oculomotor Apraxia Type 4
ORPHA:459033
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
OMIM:605589

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 Pnkp

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 Pnkp.

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

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
Pnkptm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Pnkptm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Pnkptm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pnkptm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pnkptm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Pnkpem1(IMPC)Mbp Inter-exon deletion Mice

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