Gene Summary

Name:
phosphatidylinositol glycan anchor biosynthesis, class U
Synonyms:
5430426F17Rik,  Cdc91l1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
hydrocephaly Pigutm1b(EUCOMM)Hmgu HET Early adult 0.00
preweaning lethality, complete penetrance Pigutm1b(EUCOMM)Hmgu HOM   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 Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Pathology and Tissue Collection

Images

1 Images

Human diseases caused by Pigu 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 Pigu by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Hydrocephalus, Autosomal Dominant
Dandy-Walker malformation, Hydrocephalus OMIM:123155
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Alexander Disease
Hydrocephalus, Increased CSF protein OMIM:203450
Hydrocephalus, Congenital Communicating, 1
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Hydrocephalus, Congenital, 3, With Brain Anomalies
Dandy-Walker malformation, Hydranencephaly, Holoprosencephaly, Ventriculomegaly, Hydrocephalus OMIM:617967
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Pineocytoma
Hydrocephalus, Increased CSF protein ORPHA:251912
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dandy-Walker malformation, Hydrocephalus ORPHA:1538
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Band Heterotopia
Hydrocephalus, Ventriculomegaly OMIM:600348
Kleeblattschaedel
Hydrocephalus OMIM:148800
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly OMIM:613154
Holoprosencephaly 5
Lobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Hydrocephalus, Alobar holoprosenceph... OMIM:609637
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Anencephaly, Myelomeningocele OMIM:182940
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
Developmental And Epileptic Encephalopathy 49
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly OMIM:617281
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Melanosis, Neurocutaneous
Dandy-Walker malformation, Choroid plexus papilloma, Hydrocephalus OMIM:249400
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:324416
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein ORPHA:251915
Congenital Hydrocephalus
Colpocephaly, Hydrocephalus, Ventriculomegaly ORPHA:2185
Fried Syndrome
Hydrocephalus ORPHA:85335
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Spina bifida occulta, Hydrocephalus, Myelomeningocele OMIM:183802
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Dilation of lateral ventricles, Hydrocephalus OMIM:300864
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus OMIM:304100
Pettigrew Syndrome
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly OMIM:304340
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus ORPHA:352682
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Hydrocephalus, Aqueductal stenosis ORPHA:2182
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus OMIM:614195
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis OMIM:307000
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Dandy-Walker malformation, Hydranencephaly, Hydrocephalus, Ventriculomegaly OMIM:225790
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus ORPHA:261102
Aicardi-Goutieres Syndrome 4
CSF lymphocytic pleiocytosis, Hydrocephalus, Ventriculomegaly OMIM:610333
Craniotelencephalic Dysplasia
Arrhinencephaly, Hydrocephalus ORPHA:1528
Achondroplasia
Hydrocephalus OMIM:100800
L1 Syndrome
Hydrocephalus, Aqueductal stenosis ORPHA:275543
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Hydrocephalus With Associated Malformations
Hydrocephalus OMIM:236640
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Ventriculomegaly With Defects Of The Radius And Kidney
Dilation of lateral ventricles, Hydrocephalus, Ventriculomegaly OMIM:602200
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Craniofacial Dyssynostosis
Hydrocephalus ORPHA:1516
Dandy-Walker Malformation With Postaxial Polydactyly
Dandy-Walker malformation, Dilated fourth ventricle, Hydrocephalus OMIM:220220
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly OMIM:613153
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly OMIM:602501
Nephronophthisis 18
Hydrocephalus OMIM:615862
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly ORPHA:858
Central Precocious Puberty
Hydrocephalus ORPHA:759
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus ORPHA:2183
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Lissencephaly 5
Hydrocephalus OMIM:615191
Mental Retardation, Autosomal Dominant 35
Hydrocephalus, Ventriculomegaly OMIM:616355
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy
Dandy-Walker malformation, Dilated fourth ventricle, Hydrocephalus OMIM:220219
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly ORPHA:163961
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Hydrocephalus OMIM:600991
Temple Syndrome
Hydrocephalus OMIM:616222
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Dandy-Walker malformation, Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:615287
Krabbe Disease
Hydrocephalus, Increased CSF protein OMIM:245200
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Ventriculomegaly OMIM:618577
Vacterl Association With Hydrocephalus
Hydrocephalus, Aqueductal stenosis OMIM:276950
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Ventriculomegaly ORPHA:272
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
Aase-Smith Syndrome I
Dandy-Walker malformation, Hydrocephalus OMIM:147800
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus OMIM:613603
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus OMIM:273730
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Hydrocephalus, Ventriculomegaly ORPHA:93274
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Mend Syndrome
Dandy-Walker malformation, Hydrocephalus OMIM:300960
Coach Syndrome 2
Hydrocephalus OMIM:619111
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus OMIM:613776
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Ventriculomegaly OMIM:175700
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Mental Retardation, Autosomal Dominant 36
Hydrocephalus, Ventriculomegaly OMIM:616362
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Arachnoiditis
Hydrocephalus ORPHA:137817
Infantile Sialic Acid Storage Disease
Hydrocephalus OMIM:269920
Pallister-Hall-Like Syndrome
Hydrocephalus OMIM:241800
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Ventriculomegaly OMIM:218350
Mental Retardation, Buenos Aires Type
Hydrocephalus OMIM:249630
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly OMIM:219730
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Hemangioblastoma
Hydrocephalus ORPHA:252054
Thanatophoric Dysplasia
Hydrocephalus, Ventriculomegaly ORPHA:2655
Chiari Malformation Type Ii
Spina bifida, Hydrocephalus, Myelomeningocele OMIM:207950
Meckel Syndrome, Type 3
Dandy-Walker malformation, Hydrocephalus OMIM:607361
Meckel Syndrome, Type 4
Dandy-Walker malformation, Meningocele, Hydrocephalus, Anencephaly OMIM:611134
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus OMIM:612940
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly OMIM:109120
Temple Syndrome
Hydrocephalus ORPHA:254516
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus ORPHA:2701
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Anencephaly, Holoprosencephaly, Hydrocephalus, Spinal dysraphism ORPHA:1908
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus ORPHA:171839
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly OMIM:615630
Vitamin K Antagonist Embryofetopathy
Hydrocephalus, Myelomeningocele ORPHA:1914
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Colpocephaly, Communicating hydrocephalus, Ventriculomegaly OMIM:615219
Meckel Syndrome, Type 6
Hydrocephalus, Anencephaly OMIM:612284
Joubert Syndrome 14
Dandy-Walker malformation, Hydrocephalus OMIM:614424
Crouzon Disease
Hydrocephalus ORPHA:207
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Ventriculomegaly OMIM:609757
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Ritscher-Schinzel Syndrome 1
Dandy-Walker malformation, Hydrocephalus OMIM:220210
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Ventriculomegaly OMIM:618476
Hydrolethalus
Arrhinencephaly, Hydrocephalus, Anencephaly ORPHA:2189
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Hydrocephalus, Ventriculomegaly ORPHA:370959
Muenke Syndrome
Hydrocephalus ORPHA:53271
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Gorlin Syndrome
Hydrocephalus ORPHA:377
Myopathy, Centronuclear, X-Linked
Hydrocephalus OMIM:310400
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Ventriculomegaly OMIM:617822
Bresek Syndrome
Hydrocephalus ORPHA:85284
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:60040
Triploidy
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:3376
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Ventriculomegaly OMIM:614576
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus OMIM:314390
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly ORPHA:1647
Arnold-Chiari Malformation Type Ii
Meningocele, Myelomeningocele, Ventriculomegaly, Hydrocephalus, Aqueductal stenosis ORPHA:1136
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Choroid plexus cyst, Hydrocephalus, Ventriculomegaly OMIM:617866
Diabetic Embryopathy
Spinal dysraphism, Hydrocephalus ORPHA:1926
Multiple Sulfatase Deficiency
Hydrocephalus, Increased CSF protein, Ventriculomegaly OMIM:272200
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycorrhachia, Hydrocephalus, Increased CSF lactate ORPHA:90065
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Hydrocephalus ORPHA:77298
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
3C Syndrome
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly ORPHA:7
Czeizel-Losonci Syndrome
Spina bifida, Hydrocephalus, Myelomeningocele, Spina bifida occulta ORPHA:2437
1Q44 Microdeletion Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:238769
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus OMIM:603387
B4Galt1-Cdg
Dandy-Walker malformation, Hydrocephalus ORPHA:79332
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Ventriculomegaly ORPHA:2169
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Dandy-Walker malformation, Hydrocephalus OMIM:612938
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Plasminogen Deficiency, Type I
Dandy-Walker malformation, Hydrocephalus OMIM:217090
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Hec Syndrome
Communicating hydrocephalus ORPHA:2119
Emanuel Syndrome
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly ORPHA:96170
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus OMIM:616482
Griscelli Syndrome
Hydrocephalus ORPHA:381
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus OMIM:614886
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly OMIM:616538
Rhombencephalosynapsis
Hydrocephalus, Ventriculomegaly ORPHA:59315
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus OMIM:615249
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Dandy-Walker malformation, Hydrocephalus ORPHA:459061
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Familial Lambdoid Synostosis
Hydrocephalus ORPHA:3267
Thanatophoric Dysplasia Type 1
Hydrocephalus, Ventriculomegaly ORPHA:1860
Walker-Warburg Syndrome
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly ORPHA:899
Iniencephaly
Dandy-Walker malformation, Anencephaly, Myelomeningocele, Holoprosencephaly, Spina bifida, Hydroc... ORPHA:63259
Peho Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2836
Chromosome 6Q24-Q25 Deletion Syndrome
Dilation of lateral ventricles, Hydrocephalus OMIM:612863
Chromosome 6Pter-P24 Deletion Syndrome
Dandy-Walker malformation, Hydrocephalus OMIM:612582
Intellectual Developmental Disorder, Autosomal Dominant 65
Noncommunicating hydrocephalus OMIM:619320
Endocrine-Cerebroosteodysplasia
Holoprosencephaly, Hydrocephalus, Ventriculomegaly OMIM:612651
Pelvis-Shoulder Dysplasia
Spina bifida, Hydrocephalus, Hydranencephaly ORPHA:2839
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Fanconi Anemia, Complementation Group L
Hydrocephalus OMIM:614083
Tenorio Syndrome
Hydrocephalus, Ventriculomegaly OMIM:616260
Lowry-Maclean Syndrome
Hydrocephalus ORPHA:2409
16P13.2 Microdeletion Syndrome
Dilated third ventricle, Hydrocephalus, Ventriculomegaly ORPHA:500055
Proteus-Like Syndrome
Communicating hydrocephalus, Hydrocephalus ORPHA:2969
Fanconi Anemia, Complementation Group B
Hydrocephalus, Ventriculomegaly OMIM:300514
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus ORPHA:1834
Popov-Chang syndrome
Hydrocephalus OMIM:618428
Genitopalatocardiac Syndrome
Hydrocephalus ORPHA:2075
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus OMIM:601499
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Primary Ciliary Dyskinesia
Hydrocephalus, Ventriculomegaly ORPHA:244
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus OMIM:259720
Pfeiffer Syndrome Type 2
Hydrocephalus, Aqueductal stenosis ORPHA:93259
Joubert Syndrome With Oculorenal Defect
Hydrocephalus ORPHA:2318
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:1812
47,Xyy Syndrome
Hydrocephalus ORPHA:8
Joubert Syndrome With Renal Defect
Hydrocephalus ORPHA:220497
Gracile Bone Dysplasia
Hydrocephalus OMIM:602361
Achondroplasia
Hydrocephalus ORPHA:15
Joubert Syndrome
Hydrocephalus ORPHA:475
Fg Syndrome Type 1
Hydrocephalus, Ventriculomegaly ORPHA:93932
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus ORPHA:2720
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly OMIM:313850
Tetrasomy 5P
Hydrocephalus ORPHA:3309
Congenital Sialidosis Type 2
Hydrocephalus ORPHA:93400
Beare-Stevenson Cutis Gyrata Syndrome
Hydrocephalus, Ventriculomegaly OMIM:123790
Trisomy 1Q
Hydrocephalus, Ventriculomegaly ORPHA:261344
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Trisomy 17P
Hydrocephalus ORPHA:261290
Vacterl With Hydrocephalus
Arrhinencephaly, Spina bifida, Hydrocephalus, Aqueductal stenosis ORPHA:3412
Marfanoid-Progeroid-Lipodystrophy Syndrome
Asymmetric ventricles, Hydrocephalus OMIM:616914
Encephalocraniocutaneous Lipomatosis
Dandy-Walker malformation, Hydrocephalus OMIM:613001
Multiple Sulfatase Deficiency
Hydrocephalus ORPHA:585
Posterior Meningocele
Meningocele, Occipital meningocele, Neural tube defect, Hydrocephalus, Lipomyelomeningocele ORPHA:268810
Hyperphosphatasia With Mental Retardation Syndrome 1
Hydrocephalus OMIM:239300
Adams-Oliver Syndrome
Hydrocephalus ORPHA:974
Joubert Syndrome With Ocular Defect
Hydrocephalus ORPHA:220493
Pseudotrisomy 13 Syndrome
Holoprosencephaly, Hydrocephalus OMIM:264480
Desmosterolosis
Hydrocephalus, Ventriculomegaly ORPHA:35107
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Whipple Disease
Hydrocephalus ORPHA:3452
Lhermitte-Duclos Disease
Hydrocephalus ORPHA:65285
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Ventriculomegaly ORPHA:395
Arachnoid Cyst
Holoprosencephaly, Hydrocephalus, Enlarged fossa interpeduncularis ORPHA:2356
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly OMIM:614643
Functioning Gonadotropic Adenoma
Hydrocephalus ORPHA:91348
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus OMIM:224400
Mucopolysaccharidosis, Type Ii
Hydrocephalus OMIM:309900
Pentalogy Of Cantrell
Hydrocephalus, Anencephaly ORPHA:1335
Joubert Syndrome 2
Hydrocephalus, Enlarged fossa interpeduncularis OMIM:608091
Distal Tetrasomy 15Q
Dandy-Walker malformation, Hydrocephalus ORPHA:314588
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus ORPHA:1865
Cousin Syndrome
Hydranencephaly, Hydrocephalus OMIM:260660
Apert Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:87
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus ORPHA:3301
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Semilobar holoprosencephaly OMIM:610828
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Subependymal nodules, Ventriculomegaly ORPHA:25
Dural Sinus Malformation
Hydrocephalus ORPHA:97339
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Ventriculomegaly OMIM:613150
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus OMIM:207410
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Holoprosencephaly, Hydrocephalus OMIM:253800
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus OMIM:618162
Hurler Syndrome
Hydrocephalus OMIM:607014
Mucopolysaccharidosis, Type Vii
Hydrocephalus OMIM:253220
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hydrocephalus ORPHA:1555
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dilation of lateral ventricles, Normal pressure hydrocephalus ORPHA:300570
Hypoplasminogenemia
Dandy-Walker malformation, Hydrocephalus ORPHA:722
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Anencephaly OMIM:616546
Campomelic Dysplasia
Hydrocephalus OMIM:114290
Laurin-Sandrow Syndrome
Hydrocephalus ORPHA:2378
Mucopolysaccharidosis, Type Vi
Hydrocephalus OMIM:253200
Mirage Syndrome
Hydrocephalus OMIM:617053
Cardiofaciocutaneous Syndrome 1
Hydrocephalus OMIM:115150
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus OMIM:104350
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Dilated third ventricle, Dilation of lateral ventricles, Hydrocephalus OMIM:619575
Desmosterolosis
Hydrocephalus, Ventriculomegaly OMIM:602398
Osteootohepatoenteric Syndrome
Hydrocephalus OMIM:619377
Apert Syndrome
Hydrocephalus, Ventriculomegaly OMIM:101200
Dextrocardia
Hydrocephalus ORPHA:1666
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus OMIM:244400
15Q Overgrowth Syndrome
Dandy-Walker malformation, Hydrocephalus ORPHA:314585
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Ventriculomegaly ORPHA:228308
7Q11.23 Microduplication Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:96121
Acrodysostosis 1 With Or Without Hormone Resistance
Hydrocephalus OMIM:101800
Raine Syndrome
Hydrocephalus OMIM:259775
Mohr Syndrome
Hydrocephalus OMIM:252100
Medulloblastoma
Hydrocephalus ORPHA:616
Alexander Disease
Hydrocephalus, Aqueductal stenosis ORPHA:58
Joubert Syndrome With Hepatic Defect
Hydrocephalus ORPHA:1454
Mosaic Variegated Aneuploidy Syndrome 1
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly OMIM:257300
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus ORPHA:220295
Short-Rib Thoracic Dysplasia 12
Holoprosencephaly, Hydrocephalus, Anencephaly OMIM:269860
Otopalatodigital Syndrome Type 2
Hydrocephalus, Myelomeningocele ORPHA:90652
Holoprosencephaly
Holoprosencephaly, Dandy-Walker malformation, Spinal dysraphism, Hydrocephalus ORPHA:2162
Acrofacial Dysostosis 1, Nager Type
Hydrocephalus, Aqueductal stenosis OMIM:154400
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus ORPHA:157
H Syndrome
Hydrocephalus ORPHA:168569
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus OMIM:245600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly OMIM:236670
Coccidioidomycosis
CSF lymphocytic pleiocytosis, Hypoglycorrhachia, CSF pleocytosis, Hydrocephalus, Increased CSF pr... ORPHA:228123
Mucopolysaccharidosis Type 1
Hydrocephalus ORPHA:579
Monosomy 9Q22.3
Hydrocephalus, Ventriculomegaly ORPHA:77301
Osteopetrosis, Autosomal Recessive 7
Dilation of lateral ventricles, Hydrocephalus OMIM:612301
Cardiofaciocutaneous Syndrome
Hydrocephalus ORPHA:1340
Jacobsen Syndrome
Holoprosencephaly, Hydrocephalus OMIM:147791
Shprintzen-Goldberg Craniosynostosis Syndrome
Hydrocephalus OMIM:182212
Otopalatodigital Syndrome, Type Ii
Hydrocephalus OMIM:304120
Aymé-Gripp Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:1272
Orofaciodigital Syndrome I
Hydrocephalus, Myelomeningocele OMIM:311200
Hurler Syndrome
Hydrocephalus ORPHA:93473
Monosomy 18Q
Hydrocephalus ORPHA:1600
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Hydrocephalus, Ventriculomegaly OMIM:617011
Thakker-Donnai Syndrome
Communicating hydrocephalus ORPHA:1780
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Hypoglycorrhachia ORPHA:168577
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hydrocephalus, Aqueductal stenosis OMIM:619512
Linear Skin Defects With Multiple Congenital Anomalies 1
Colpocephaly, Hydrocephalus OMIM:309801
Sturge-Weber Syndrome
Hydrocephalus ORPHA:3205
Isotretinoin-Like Syndrome
Hydrocephalus ORPHA:2306
Opitz-Kaveggia Syndrome
Hydrocephalus OMIM:305450
Cerebrooculonasal Syndrome
Hydrocephalus OMIM:605627
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hydrocephalus ORPHA:505248
Basal Cell Nevus Syndrome
Spina bifida, Hydrocephalus OMIM:109400
Osteopathia Striata With Cranial Sclerosis
Spina bifida occulta, Hydrocephalus OMIM:300373
Dubowitz Syndrome
Spina bifida occulta, Hydrocephalus ORPHA:235
Stromme Syndrome
Hydrocephalus OMIM:243605
Mucopolysaccharidosis Type 3
Hydrocephalus, Ventriculomegaly ORPHA:581
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:457284
Mycophenolate Mofetil Embryopathy
Hydrocephalus ORPHA:268249
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus OMIM:616084
1Q21.1 Microdeletion Syndrome
Hydrocephalus ORPHA:250989
Meckel Syndrome
Dandy-Walker malformation, Lobar holoprosencephaly, Hydrocephalus, Anencephaly ORPHA:564
Neurofibromatosis, Type I
Spina bifida, Hydrocephalus, Aqueductal stenosis OMIM:162200
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrocephalus ORPHA:79282
Holoprosencephaly-Postaxial Polydactyly Syndrome
Holoprosencephaly, Hydrocephalus ORPHA:2166
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hydrocephalus ORPHA:536467
Trisomy 8P
Dandy-Walker malformation, Hydrocephalus ORPHA:264450
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Ventriculomegaly ORPHA:2462
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus ORPHA:91350
Craniopharyngioma
Hydrocephalus ORPHA:54595
Knobloch Syndrome
Hydrocephalus ORPHA:1571
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus ORPHA:137667
Meckel Syndrome, Type 1
Dandy-Walker malformation, Hydrocephalus, Anencephaly OMIM:249000
Fanconi Anemia, Complementation Group D2
Hydrocephalus OMIM:227646
Kabuki Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2322
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Hydrocephalus, Ventriculomegaly ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Hydrocephalus, Ventriculomegaly ORPHA:363958
22Q11.2 Deletion Syndrome
Meningocele, Arrhinencephaly, Occipital myelomeningocele, Spina bifida, Hydrocephalus ORPHA:567
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydrocephalus ORPHA:163979
Hajdu-Cheney Syndrome
Hydrocephalus OMIM:102500
Fanconi Anemia
Spina bifida, Hydrocephalus, Ventriculomegaly ORPHA:84
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hydrocephalus ORPHA:95699
Mend Syndrome
Dandy-Walker malformation, Hydrocephalus ORPHA:401973
Smith-Lemli-Opitz Syndrome
Holoprosencephaly, Dandy-Walker malformation, Hydrocephalus OMIM:270400
Cryptococcosis
Hydrocephalus ORPHA:1546
Hajdu-Cheney Syndrome
Hydrocephalus ORPHA:955
Craniofacial Microsomia
Hydrocephalus OMIM:164210
Limb Body Wall Complex
Anencephaly, Myelomeningocele, Spina bifida, Hydrocephalus, Spina bifida occulta ORPHA:2369
Marden-Walker Syndrome
Hydrocephalus ORPHA:2461
Osteogenesis Imperfecta
Hydrocephalus, Noncommunicating hydrocephalus, Ventriculomegaly ORPHA:666
Histiocytoid Cardiomyopathy
Hydrocephalus ORPHA:137675
Holoprosencephaly 9
Holoprosencephaly, Hydrocephalus OMIM:610829
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hydrocephalus, Decreased CSF 5-methyltetrahydrofolate concentration, Ventriculomegaly OMIM:619475
Gaucher Disease
Hydrocephalus, Ventriculomegaly ORPHA:355
Lymphangioleiomyomatosis
Hydrocephalus ORPHA:538
Distal 22Q11.2 Microduplication Syndrome
Hydrocephalus ORPHA:261337
Neurofibromatosis Type 2
Hydrocephalus ORPHA:637
Meningioma
Hydrocephalus ORPHA:2495
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2072
Lenz-Majewski Hyperostotic Dwarfism
Hydrocephalus ORPHA:2658
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus ORPHA:309282
Facial Dysmorphism With Multiple Malformations
Hydrocephalus OMIM:227255
Pseudoaminopterin Syndrome
Hydrocephalus ORPHA:221120
Microphthalmia With Limb Anomalies
Arrhinencephaly, Hydrocephalus ORPHA:1106
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Ventriculomegaly OMIM:253280
Wiedemann-Rautenstrauch Syndrome
Dandy-Walker malformation, Hydrocephalus OMIM:264090
Baller-Gerold Syndrome
Spina bifida occulta, Hydrocephalus OMIM:218600
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Ventriculomegaly ORPHA:457359
Microphthalmia With Linear Skin Defects Syndrome
Hydrocephalus ORPHA:2556
Fontaine Progeroid Syndrome
Hydrocephalus OMIM:612289
Tetraamelia Syndrome 1
Hydrocephalus OMIM:273395
Oeis Complex
Hydrocephalus, Myelomeningocele OMIM:258040
Alobar Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:93926
Semilobar Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:220386
Lobar Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:93924
Cockayne Syndrome A
Normal pressure hydrocephalus OMIM:216400
Autosomal Recessive Malignant Osteopetrosis
Hydrocephalus ORPHA:667
Costello Syndrome
Hydrocephalus, Ventriculomegaly OMIM:218040
Cockayne Syndrome B
Normal pressure hydrocephalus OMIM:133540
Fraser Syndrome 1
Hydrocephalus, Myelomeningocele OMIM:219000
Focal Dermal Hypoplasia
Spina bifida occulta, Hydrocephalus, Myelomeningocele OMIM:305600
Loeys-Dietz Syndrome 1
Hydrocephalus OMIM:609192
Fetal Akinesia Deformation Sequence 1
Hydrocephalus OMIM:208150
Yunis-Varon Syndrome
Arrhinencephaly, Hydrocephalus ORPHA:3472
Neurofibromatosis Type 1
Hydrocephalus ORPHA:636
Hydrolethalus Syndrome 1
Dandy-Walker malformation, Arrhinencephaly, Severe hydrocephalus, Anencephaly OMIM:236680
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus OMIM:619321
Wolf-Hirschhorn Syndrome
Hydrocephalus, Ventriculomegaly OMIM:194190
Tetrasomy 9P
Dandy-Walker malformation, Hydrocephalus ORPHA:3310
Tuberous Sclerosis Complex
Noncommunicating hydrocephalus, Subependymal nodules ORPHA:805
Mucopolysaccharidosis Type 2
Communicating hydrocephalus ORPHA:580
Peters Plus Syndrome
Spina bifida occulta, Hydrocephalus, Ventriculomegaly ORPHA:709
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hydrocephalus ORPHA:3042
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dilation of lateral ventricles, Hydrocephalus, Aqueductal stenosis OMIM:619534
Wiedemann-Rautenstrauch Syndrome
Hydrocephalus ORPHA:3455
Loeys-Dietz Syndrome 2
Hydrocephalus OMIM:610168
Chromosome 1P36 Deletion Syndrome, Distal
Dilation of lateral ventricles, Hydrocephalus OMIM:607872
Split Cord Malformation
Meningocele, Myelomeningocele, Hydrocephalus, Cervical spina bifida, Lipomyelomeningocele ORPHA:573278
Peters-Plus Syndrome
Hydrocephalus, Ventriculomegaly OMIM:261540
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydrocephalus ORPHA:363700
Exstrophy-Epispadias Complex
Spina bifida, Hydrocephalus ORPHA:322
Simpson-Golabi-Behmel Syndrome, Type 1
Hydrocephalus OMIM:312870
Coffin-Siris Syndrome 12
Noncommunicating hydrocephalus OMIM:619325
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus OMIM:175780
Roberts-Sc Phocomelia Syndrome
Hydrocephalus OMIM:268300

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 Pigu

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 Pigu.

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

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MGI Allele Allele Type Produced
Pigutm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Pigutm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

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