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Gene: Uggt1 MGI:2443162

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Gene Summary

Name:
UDP-glucose glycoprotein glucosyltransferase 1
Synonyms:
A930007H10Rik,  C820010P03Rik,  0910001L17Rik,  Ugcgl1

Order Alleles

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
abnormal allantois morphology Uggt1em1(IMPC)Mbp HOM E9.5 0.00
edema Uggt1em1(IMPC)Mbp HET E15.5 0.00
small heart Uggt1em1(IMPC)Mbp HET Early adult 0.00
abnormal placenta morphology Uggt1em1(IMPC)Mbp HET E15.5 0.00
anophthalmia Uggt1em1(IMPC)Mbp HOM E15.5 0.00
abnormal liver morphology Uggt1em1(IMPC)Mbp HET Early adult 0.00
abnormal pharyngeal arch morphology Uggt1em1(IMPC)Mbp HOM E9.5 0.00
abnormal heart morphology Uggt1em1(IMPC)Mbp HET Early adult 0.00
abnormal neural tube morphology Uggt1em1(IMPC)Mbp HOM E9.5 0.00
edema Uggt1em1(IMPC)Mbp HOM E15.5 0.00
abnormal kidney morphology Uggt1em1(IMPC)Mbp HET Early adult 0.00
abnormal embryo turning Uggt1em1(IMPC)Mbp HOM E9.5 0.00
abnormal visceral yolk sac morphology Uggt1em1(IMPC)Mbp HOM E9.5 0.00
preweaning lethality, complete penetrance Uggt1em1(IMPC)Mbp HOM   Early adult 0.00
abnormal neural tube closure Uggt1em1(IMPC)Mbp HOM E9.5 0.00
enlarged heart Uggt1em1(IMPC)Mbp HET Early adult 0.00
abnormal placenta morphology Uggt1em1(IMPC)Mbp HOM E15.5 0.00
abnormal craniofacial morphology Uggt1em1(IMPC)Mbp HOM E15.5 0.00
embryonic growth retardation Uggt1em1(IMPC)Mbp HOM E15.5 0.00
small kidney Uggt1em1(IMPC)Mbp HET Early adult 0.00
abnormal blood vessel morphology Uggt1em1(IMPC)Mbp HET E15.5 0.00
abnormal midbrain development Uggt1em1(IMPC)Mbp HOM E9.5 0.00
abnormal heart morphology Uggt1em1(IMPC)Mbp HOM E9.5 0.00
abnormal vitelline vasculature morphology Uggt1em1(IMPC)Mbp HOM E9.5 0.00
pale yolk sac Uggt1em1(IMPC)Mbp HOM E9.5 0.00
embryonic growth retardation Uggt1em1(IMPC)Mbp HOM E9.5 0.00
cataract Uggt1em1(IMPC)Mbp HET Early adult 5.73×10-05

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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

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Uggt1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Uggt1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract, Hypertrophic cardiomyopathy ORPHA:79281
Lipedema
Edema OMIM:614103
Ethanolaminosis
Cardiomegaly OMIM:227150
Angioedema, Hereditary, 6
Angioedema, Edema of the dorsum of hands, Facial edema OMIM:619363
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia, Neural tube defect OMIM:600776
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Holoprosencephaly, Bilateral microphthalmos, Anophthalmia OMIM:611638
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract, Renal tubular dysfunction ORPHA:1380
Galactosemia Ii
Prolonged neonatal jaundice, Cataract, Galactosuria OMIM:230200
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect, Hepatomegaly, Jaundice, Cataract, Elevated circulating aspartate amino... OMIM:614876
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract, Cardiomyopathy OMIM:225740
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Galactosemia Iv
Prolonged neonatal jaundice, Cataract OMIM:618881
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Nephroti... OMIM:617713
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Syndromic 12
Ventricular septal defect, Hypoplastic left atrium, Microphthalmia, Anophthalmia OMIM:615524
Anophthalmia Plus Syndrome
Spina bifida, Anophthalmia ORPHA:1104
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Micropenis OMIM:610156
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Microphthalmia, Anophthalmia OMIM:221950
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Corneal... ORPHA:1067
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly, Cataract OMIM:607906
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Galactose Epimerase Deficiency
Aminoaciduria, Hepatomegaly, Jaundice, Cataract, Splenomegaly ORPHA:79238
Trisomy 13
Cystic hygroma, Hydrops fetalis, Atrial septal defect, Ventricular septal defect, Patent ductus a... ORPHA:3378
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Holoprosencephaly, Growth delay, Patent ductus arteriosus, Microphthal... ORPHA:77298
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Trisomy 1Q
Cystic hygroma, Polyhydramnios, Hydrops fetalis, Ventricular septal defect, Patent ductus arterio... ORPHA:261344
Trichomegaly
Cataract OMIM:190330
X-Linked Mandibulofacial Dysostosis
Branchial anomaly, Abnormal mitral valve morphology, Webbed neck, Pulmonic stenosis, Short stature ORPHA:1131
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Hypoplasia of penis, Hypospadias, Tetralogy of Fallot, Aplasia/Hypoplasia of the lens ORPHA:1381
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cardiomyopathy, Cataract, Decreased liver function, 3-Methylglutaconic aci... ORPHA:67048
Branchiogenic-Deafness Syndrome
Branchial fistula, Short stature, Branchial cyst OMIM:609166
Vacterl With Hydrocephalus
Polyhydramnios, Spina bifida, Arrhinencephaly, Aqueductal stenosis, Microphthalmia, Anophthalmia,... ORPHA:3412
Meckel Syndrome, Type 8
Short neck, Microphthalmia, Anophthalmia OMIM:613885
Cataract 9, Multiple Types
Developmental cataract, Iris coloboma, Cataract, Microcornea, Progressive cataract OMIM:604219
Hydrolethalus
Polyhydramnios, Arrhinencephaly, Anencephaly, Microphthalmia, Anophthalmia, Hydrocephalus ORPHA:2189
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy, Hypertrophic cardiomyopathy ORPHA:1369
Attrv30M Amyloidosis
Abnormal renal physiology, Nephropathy, Cardiomegaly, Cardiomyopathy ORPHA:85447
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Cataract, Hypertrophic cardiomyopathy OMIM:615418
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Cataract, Ectopic kidney, Cystic renal dysplasia OMIM:613730
Familial Atrial Myxoma
Cardiac myxoma, Cholestasis, Jaundice, Pulmonic valve myxoma, Cardiomegaly, Bacterial endocarditis ORPHA:615
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Neuraminidase Deficiency
Hepatomegaly, Cataract, Urinary excretion of sialylated oligosaccharides, Cardiomegaly, Splenomeg... OMIM:256550
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Macrovesicular hepatic steatosis, Hepatomegaly, Cardiomegaly, Dila... OMIM:600649
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Carnitine Deficiency, Systemic Primary
Elevated hepatic transaminase, Endocardial fibroelastosis, Hepatic steatosis, Decreased carnitine... OMIM:212140
Galactose Mutarotase Deficiency
Hepatomegaly, Cataract, Decreased liver function, Cholestasis ORPHA:570422
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Chilblain Lupus 2
Edema OMIM:614415
Lymphatic Malformation 2
Lymphedema OMIM:611944
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly OMIM:273680
Combined Oxidative Phosphorylation Deficiency 31
Cataract, Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Lymphatic Malformation 8
Polyhydramnios, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Generalized edema OMIM:618773
Alpha-N-Acetylgalactosaminidase Deficiency
Cataract, Oligosacchariduria, Cardiomegaly ORPHA:3137
Solitary Median Maxillary Central Incisor
Holoprosencephaly, Microphthalmia, Short stature, Anophthalmia OMIM:147250
Mulibrey Nanism
Myocardial fibrosis, Iris coloboma, Hepatomegaly, Cardiomegaly, Pericardial constriction, Astigma... OMIM:253250
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Hypoplastic left heart, Anencephaly, Ventricular septal defect ORPHA:2476
Cataract 47
Cataract, Microcornea, Glycosuria OMIM:612018
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cystic hygroma, Atrial septal defect, Branchial anomaly, Abnormal heart morphology, Ventricular s... ORPHA:453499
Senior-Loken Syndrome
Nephronophthisis, Cataract, Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic ... ORPHA:3156
Hemifacial Microsomia
Branchial anomaly, Ventricular septal defect, Patent ductus arteriosus, Microphthalmia, Anophthal... OMIM:164210
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Cataract, Hypertrophic cardiomyopathy ORPHA:1345
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Renal tubular acidosis, Hepatomegaly, Cardiomegaly OMIM:255120
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Refsum Disease, Classic
Abnormal renal physiology, Cataract, Cardiomegaly, Cardiomyopathy OMIM:266500
Congenital Toxoplasmosis
Elevated hepatic transaminase, Jaundice, Cardiomegaly, Hepatomegaly ORPHA:858
Leber Congenital Amaurosis 1
Hepatomegaly, Keratoconus, Hyperthreoninuria, Cataract OMIM:204000
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Severe postnatal growth retardation, Branchial cyst ORPHA:435938
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Branchiogenic Deafness Syndrome
Branchial fistula, Short stature, Branchial cyst ORPHA:50815
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Hepatic fibrosis, Cataract, Cirrhosis, Cholestasis OMIM:609313
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Cat... OMIM:618805
Microphthalmia, Syndromic 9
Atrial septal defect, Truncus arteriosus, Single ventricle, Ventricular septal defect, Patent duc... OMIM:601186
Infantile Sialic Acid Storage Disease
Hepatomegaly, Splenomegaly, Cardiomegaly, Nephrotic syndrome OMIM:269920
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Cardiomegaly, Hepatomegaly OMIM:619064
Holoprosencephaly
Branchial anomaly, Ventricular septal defect, Holoprosencephaly, Spinal dysraphism, Abnormal pulm... ORPHA:2162
Lymphatic Malformation 7
Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fetalis, Pulmonary edema OMIM:617300
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Fibular Hemimelia
Spina bifida, Abnormal heart morphology, Anophthalmia ORPHA:93323
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatic steatosis, Periportal fibrosis, Hepatomegaly, Cardiomegaly, Dica... OMIM:201475
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Hepatomegaly, Cardiomegaly, Ventricular septal hyp... OMIM:115197
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Hemochromatosis, Type 1
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Hepatomegaly, Cardiomegaly, S... OMIM:235200
Exfoliation Syndrome
Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseudoexfoliation, Abnormali... OMIM:177650
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Heparan sulfate excretion in urine, Hepatomegaly, Cardiomegaly, Sp... OMIM:252920
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Alg2-Cdg
Cataract, Iris coloboma ORPHA:79326
White Sponge Nevus 2
Edema OMIM:615785
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Horseshoe kidney, Single ventricle, Ventricular septal defect, Mitral atres... OMIM:306955
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Ventricular septal defect, Holoprosencephaly, Spinal dysraphism, Anenceph... ORPHA:1908
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long-chain dicarboxylic aciduria, Elevated hepatic transaminase, Enlarged kidney, Macrovesicular ... OMIM:608836
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Peters anomaly, Cardiomegaly, Patent foramen ovale OMIM:618652
Microphthalmia, Syndromic 3
Ventricular septal defect, Patent ductus arteriosus, Postnatal growth retardation, Optic nerve hy... OMIM:206900
Microphthalmia With Limb Anomalies
Growth delay, Microphthalmia, Postnatal growth retardation, Anophthalmia OMIM:206920
Gaucher Disease, Type Iiic
Mitral valve calcification, Hepatomegaly, Opacification of the corneal stroma, Cardiomegaly, Mitr... OMIM:231005
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Diabetic Embryopathy
Ventricular septal defect, Spinal dysraphism, Abnormality of the neck, Tetralogy of Fallot, Aplas... ORPHA:1926
Alg8-Cdg
Cataract, Hepatic failure ORPHA:79325
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Tricuspid valve prolapse, Umbilical hernia, Anophthalmia ORPHA:1101
Hemochromatosis, Type 4
Cataract, Cardiomyopathy OMIM:606069
Cockayne Syndrome Type 2
Intrauterine growth retardation, Delayed eruption of primary teeth, Anophthalmia ORPHA:90322
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Cataract, Hypoplastic left heart, Hypoplasia of penis, Ventricular septal defect ORPHA:2772
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Decreased liver function, Cardiom... ORPHA:42
Transketolase Deficiency
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Increased level of ri... ORPHA:488618
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Congenital Rubella Syndrome
Atrial septal defect, Ventricular septal defect, Aplasia/Hypoplasia of the iris, Corneal opacity,... ORPHA:290
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Band keratopathy, Cataract, Proximal renal tubular acidosis, Bicarbonate-wasting renal tubular ac... OMIM:604278
Fucosidosis
Mucopolysacchariduria, Corneal opacity, Hepatomegaly, Cardiomegaly, Abnormality of the gallbladder ORPHA:349
Peroxisome Biogenesis Disorder 10B
Neurogenic bladder, Cataract, Nephrocalcinosis, Prolonged neonatal jaundice OMIM:617370
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Sickle Cell Anemia
Hematuria, Cholelithiasis, Hepatomegaly, Jaundice, Cardiomegaly, Splenomegaly, Renal insufficiency OMIM:603903
Peroxisome Biogenesis Disorder 9B
Cataract, Cardiomyopathy OMIM:614879
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Weill-Marchesani Syndrome
Ventricular septal defect, Ectopia lentis, Pulmonic stenosis, Aortic valve stenosis, Cataract ORPHA:3449
Walker-Warburg Syndrome
Microphthalmia, Hydrocephalus, Anophthalmia ORPHA:899
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Hypertrophic card... OMIM:300257
Timothy Syndrome
Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect OMIM:601005
Galactosemia I
Cirrhosis, Albuminuria, Aminoaciduria, Hepatomegaly, Cataract, Decreased liver function, Increase... OMIM:230400
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Cystic hygroma, Atrial septal defect, Branchial anomaly, Abnormal heart morphology, Ventricular s... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Cystic hygroma, Atrial septal defect, Branchial anomaly, Abnormal heart morphology, Ventricular s... ORPHA:352665
Coats Disease
Abnormal anterior chamber morphology, Cataract, Aplasia/Hypoplasia of the iris ORPHA:190
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Lymphedema, Edema, Facial edema OMIM:618154
Oligomeganephronia
Secundum atrial septal defect, Dehydration, Branchial cyst ORPHA:2260
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, Microcornea, Hydronephrosis, Hypospadias, Abnormal cardiac septum morphology OMIM:616449
Bor Syndrome
Branchial cyst ORPHA:107
Branchiootorenal Syndrome 1
Branchial fistula, Branchial cyst OMIM:113650
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Cataract 15, Multiple Types
Developmental cataract, Nuclear cataract, Cataract, Lamellar cataract, Cortical cataract OMIM:615274
Posterior Meningocele
Neural tube defect, Meningocele, Occipital meningocele, Hydromyelia, Limitation of neck motion, L... ORPHA:268810
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Cystic renal dysplasia, Renal tubular epithelial necrosis, Hepatic steatosis, My... ORPHA:228308
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Abnormal heart morphology, Intrahepatic biliary dysgenesis, Hepatomegaly, Jaund... OMIM:614866
Matthew-Wood Syndrome
Intrauterine growth retardation, Microphthalmia, Anophthalmia ORPHA:2470
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Stiff Skin Syndrome
Cataract, Bicuspid aortic valve OMIM:184900
Joubert Syndrome 9
Hepatic fibrosis, Cataract, Astigmatism, Stage 5 chronic kidney disease OMIM:612285
Distal 22Q11.2 Microduplication Syndrome
Palpebral edema, Ventricular septal defect, Branchial fistula, Webbed neck, Patent ductus arterio... ORPHA:261337
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Charge Syndrome
Polyhydramnios, Delayed eruption of teeth, Holoprosencephaly, Patent ductus arteriosus, Abnormal ... ORPHA:138
Autosomal Dominant Keratitis
Aniridia, Cataract, Keratitis, Microcornea, Opacification of the corneal stroma, Hypoplastic iris... ORPHA:2334
Amoebic Keratitis
Decreased corneal sensation, Abnormal corneal epithelium morphology, Corneal perforation, Catarac... ORPHA:67043
Craniorachischisis
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Anencephaly, Myelomeningocele ORPHA:63260
Lymphangiectasia, Pulmonary, Congenital
Polyhydramnios, Palpebral edema, Pleural effusion, Pedal edema, Facial edema, Edema, Ascites, Non... OMIM:265300
Microgastria-Limb Reduction Defects Association
Arrhinencephaly, Type I truncus arteriosus, Secundum atrial septal defect, Anophthalmia OMIM:156810
Meckel Syndrome
Situs inversus totalis, Oligohydramnios, Aplasia/Hypoplasia of the iris, Anencephaly, Microphthal... ORPHA:564
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Rhizomelia, Microphthalmia, Anophthalmia OMIM:615877
Anterior Segment Dysgenesis 7
Buphthalmos, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:269400
Triploidy
Iris coloboma, Hepatomegaly, Cataract, Abnormality of the pancreas, Abnormality of the gallbladde... ORPHA:3376
Microgastria-Limb Reduction Defect Syndrome
Atrial septal defect, Truncus arteriosus, Arrhinencephaly, Growth delay, Congenital muscular tort... ORPHA:2538
Peters Anomaly
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... ORPHA:708
Distal 22Q11.2 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Branchial fistula, Growth de... ORPHA:261330
Ectopia Lentis Et Pupillae
Cataract, Persistent pupillary membrane, Ectopia lentis OMIM:225200
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Atrial septal defect, Spinal dysraphism, Aortic valve stenosis, Hypoplastic left heart, Mitral st... OMIM:617660
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Hepatocellular carcinoma, Chronic hepatic failure, Hepatomegaly, Cardiomegaly, Cholang... ORPHA:465508
Leigh Syndrome With Nephrotic Syndrome
Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Cardiomegaly, Nephrotic syndrom... ORPHA:255249
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:619051
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microphthalmia, Short stature, Anophthalmia OMIM:610125
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Abnormal heart morphology, Aminoaciduria, Intrahepatic biliary dysgenesis, Hepa... OMIM:214110
Cantu Syndrome
Congenital hypertrophy of left ventricle, Pericardial effusion, Cardiomegaly, Bicuspid aortic valve OMIM:239850
Amyloidosis, Hereditary, Transthyretin-Related
Urinary incontinence, Cardiomegaly, Cardiomyopathy OMIM:105210
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Atrial septal defect, Ventricular septal defect, Patent ductus arterio... OMIM:300166
Charge Syndrome
Atrial septal defect, Ventricular septal defect, Holoprosencephaly, Arrhinencephaly, Webbed neck,... OMIM:214800
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Increased hepatic glycogen content, 3-Methylglutaconic aciduria, Cardiomegaly, Cardiomyopathy OMIM:619259
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Alagille Syndrome 1
Vesicoureteral reflux, Multiple small medullary renal cysts, Renal artery stenosis, Cirrhosis, Ca... OMIM:118450
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Perimembranous ventricu... ORPHA:1457
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Atrial septal defect, Lymphedema, Pleural effusion, Anophthalmia, Severe short stature, Edema, Mi... ORPHA:2526
Oculoauricular Syndrome
Microphakia, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:612109
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hydronephrosis, Cardiomegaly, Hypospadias, Micropenis, Hypertrophic ca... OMIM:616897
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Lymphedema-Hypoparathyroidism Syndrome
Mitral valve prolapse, Renal insufficiency, Cataract, Nephropathy OMIM:247410
Microphthalmia With Linear Skin Defects Syndrome
Growth delay, Severe short stature, Microphthalmia, Tricuspid valve prolapse, Anophthalmia, Dilat... ORPHA:2556
Cockayne Syndrome Type 1
Delayed eruption of primary teeth, Postnatal growth retardation, Anophthalmia ORPHA:90321
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Alport Syndrome 2, Autosomal Recessive
Hematuria, Anterior lenticonus, Corneal erosion, Cataract, Stage 5 chronic kidney disease, Nephro... OMIM:203780
Papillorenal Syndrome
Horseshoe kidney, Renal hypoplasia, Lens luxation, Multicystic kidney dysplasia, Cataract, Vesico... OMIM:120330
Pseudo-Torch Syndrome 3
Acute kidney injury, Cardiomegaly, Proteinuria OMIM:618886
Cerebrooculonasal Syndrome
Hydrocephalus, Anophthalmia OMIM:605627
Holoprosencephaly 9
Holoprosencephaly, Optic nerve hypoplasia, Microphthalmia, Short stature, Anophthalmia, Hydroceph... OMIM:610829
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Cataract, Peters anomaly, Microcor... OMIM:610256
Fraser Syndrome 1
Abnormal heart morphology, Bilateral microphthalmos, Anophthalmia, Myelomeningocele, Hydrocephalus OMIM:219000
Hsd10 Disease, Infantile Type
Abnormal concentration of acylcarnitine in the urine, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral valve prolapse, Aortic valve stenosis, Cardiomegaly, Abnormal atrioventricular valve morph... ORPHA:324410
Focal Dermal Hypoplasia
Aniridia, Delayed eruption of teeth, Anophthalmia, Umbilical hernia, Microphthalmia, Short statur... OMIM:305600
Fucosidosis
Oligosacchariduria, Hepatomegaly, Cardiomegaly, Tortuosity of conjunctival vessels, Splenomegaly OMIM:230000
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Ventricular septal defect, Hepatomegaly, Pulmonic stenosis, Pancreatic hypo... OMIM:602782
Treacher-Collins Syndrome
Branchial fistula, Patent ductus arteriosus, Microphthalmia ORPHA:861
Proximal Myotonic Myopathy
Cataract ORPHA:606
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Hepatic steatosis, Cardiomyopathy, Cataract, Renal cyst, Renal ins... ORPHA:445038
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Isolated Aniridia
Aniridia, Peters anomaly, Cataract ORPHA:250923
Aniridia 2
Cataract, Aniridia OMIM:617141
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Elevated circulating alanine aminotransferase concentration, Oligosacchariduria, Hepatomegaly, Le... ORPHA:308552
Iniencephaly
Cystic hygroma, Polyhydramnios, Spina bifida, Holoprosencephaly, Rhizomelia, Spinal dysraphism, A... ORPHA:63259
Dahlberg-Borer-Newcomer Syndrome
Mitral valve prolapse, Renal insufficiency, Cataract, Nephropathy ORPHA:1563
Lymphatic Malformation 6
Polyhydramnios, Lymphedema, Pleural effusion, Facial edema, Edema, Ascites, Nonimmune hydrops fet... OMIM:616843
Sandhoff Disease
Urinary incontinence, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly OMIM:268800
Cataract 5, Multiple Types
Anterior polar cataract, Pulverulent cataract, Nuclear cataract, Lamellar cataract, Zonular cataract OMIM:116800
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Fraser Syndrome
Myelomeningocele, Microphthalmia, Umbilical hernia, Anophthalmia ORPHA:2052
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract, Polycystic kidney dysplasia OMIM:263100
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Cardiomyopathy, Biventricular hypertrophy OMIM:261740
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Displacement of the papillary muscles, Hepatomegaly, Righ... ORPHA:1329
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Enlarged kidney, Hepatoblastoma, Hepatomegaly, Pancreatic hyperplasia, Vesi... OMIM:130650
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Branchiooculofacial Syndrome
Low posterior hairline, Branchial anomaly, Postnatal growth retardation, Microphthalmia, Anophtha... OMIM:113620
8Q24.3 Microdeletion Syndrome
Truncus arteriosus, Oligohydramnios, Branchial cyst, Abnormal heart morphology, Complete atrioven... ORPHA:508488
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Cardiomegaly, Ventricular septal defect OMIM:617022
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Histiocytoid Cardiomyopathy
Congenital aphakia, Ventricular septal defect, Corneal opacity, Hepatomegaly, Megalocornea, Renal... ORPHA:137675
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Failure of eruption of permanent teeth, Microphthalmia, Anophthalmia ORPHA:2250
Mucolipidosis Ii Alpha/Beta
Mucopolysacchariduria, Hepatomegaly, Megalocornea, Opacification of the corneal stroma, Cardiomeg... OMIM:252500
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Hepatic failure, Splenomegaly, Hepatosplenomegaly OMIM:608013
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Short stature, Anophthalmia ORPHA:264200
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Spinal dysraphism OMIM:612918
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Pollakisuria, Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Leiomyomatosis, Diffuse, With Alport Syndrome
Abnormal renal physiology, Hematuria, Anterior lenticonus, Nephropathy, Lenticonus, Cataract, Sta... OMIM:308940
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Mucopolysacchariduria, Abnormal aortic valve morphology, Cornea... ORPHA:581
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Hepatocellular necrosis, Cardiomegaly OMIM:618278
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Spinal dysraphism, Short stature OMIM:603546
Mucoepithelial Dysplasia, Hereditary
Hematuria, Cor pulmonale, Cataract, Opacification of the corneal stroma, Corneal neovascularizati... OMIM:158310
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Chordee, Ventricular septal defect, Iris coloboma, Cataract, Sclerocornea, ... OMIM:309801
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Exocrine pancreatic insufficiency, Chronic hepatitis, Hepatitis, Asplenia, Cataract, B... OMIM:269200
Abetalipoproteinemia
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hepatic fibrosis, Kera... ORPHA:14
Hypertrichotic Osteochondrodysplasia, Cantu Type
Abnormal heart valve morphology, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:1517
Microphthalmia With Limb Anomalies
Arrhinencephaly, Microphthalmia, Short stature, True anophthalmia, Hydrocephalus ORPHA:1106
Naxos Disease
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Right ventricular ca... OMIM:601214
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma, Cardiomegaly ORPHA:79280
Joubert Syndrome 21
Anophthalmia OMIM:615636
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Atrial septal defect, Developmental glaucoma, Cardiomegaly, Left ventricular hypertrophy, Bicuspi... OMIM:245600
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Persistent pupillary membrane, Leukocoria, Iris coloboma, ... OMIM:221900
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Relapsing Polychondritis
Hematuria, Pericarditis, Abnormal endocardium morphology, Abnormal aortic valve morphology, Catar... ORPHA:728
Aniridia 1
Aniridia, Anterior subcapsular cataract, Corneal erosion, Ectopia lentis, Hypoplasia of the iris,... OMIM:106210
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acidosis, Hyperphosphaturia, ... ORPHA:47159
Beckwith-Wiedemann Syndrome
Multiple renal cysts, Exocrine pancreatic insufficiency, Enlarged kidney, Congenital megaureter, ... ORPHA:116
Bohring-Opitz Syndrome
Cholelithiasis, Urinary retention, Cardiomegaly, Abnormal cardiac septum morphology, Annular panc... ORPHA:97297
Truncus Arteriosus
Atrial septal defect, Truncus arteriosus, Abnormal heart morphology, Abnormal heart valve morphol... ORPHA:3384
Williams Syndrome
Abnormal endocardium morphology, Corneal opacity, Hypercalciuria, Megalocornea, Vesicoureteral re... ORPHA:904
Greenberg Dysplasia
Hepatomegaly, Hepatic calcification, Cardiomegaly, Hepatosplenomegaly, Pancreatic islet-cell hype... OMIM:215140
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Developmental glaucoma, Prolonged neonatal jaundice, Cardiomegaly,... ORPHA:51
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Phace Syndrome
Heterochromia iridis, Abnormal heart morphology, Iris coloboma, Lens coloboma, Cataract, Tetralog... ORPHA:42775
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Cardiomegaly, Ventricular septal defect ORPHA:96191
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Abnormality iris morphology, Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Glycogen Storage Disease Due To Acid Maltase Deficiency
Elevated circulating alanine aminotransferase concentration, Oligosacchariduria, Hepatomegaly, Le... ORPHA:365
Semilobar Holoprosencephaly
Abnormal heart morphology, Growth delay, Neural tube defect, Short stature, Hydrocephalus ORPHA:220386
Alobar Holoprosencephaly
Abnormal heart morphology, Growth delay, Neural tube defect, Short stature, Hydrocephalus ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormal heart morphology, Growth delay, Neural tube defect, Short stature, Hydrocephalus ORPHA:93926
Lobar Holoprosencephaly
Abnormal heart morphology, Growth delay, Neural tube defect, Short stature, Hydrocephalus ORPHA:93924
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Atrial septal defect, Single ventricle, Vent... ORPHA:99125
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Abnormal heart morphology, Umbilical hernia, Neural tube defect, Short... ORPHA:798
Yunis-Varon Syndrome
Atrial septal defect, Ventricular septal defect, Renovascular hypertension, Cataract, Cardiomegal... ORPHA:3472
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Atrial septal defect, Ventricular septal defect, Right ventricular hypertrophy, Cardiomegaly, Lef... OMIM:300967
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Restrictive cardiomyopathy, Myocardial calcification, Hepatomegaly, Lef... ORPHA:75565
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Conjunctivitis, Cardiomegaly, Splenomegaly, Punctate... OMIM:256040
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia OMIM:607932
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Hyperphosphaturia, Pericardial effusion, Myocardial calcification, Hepat... ORPHA:51608
Microphthalmia, Syndromic 1
Webbed neck, Growth delay, Anophthalmia, Microphthalmia, Bicuspid aortic valve OMIM:309800
Singleton-Merten Syndrome 1
Mitral valve calcification, Aortic valve stenosis, Cardiomegaly, Aortic valve calcification, Subv... OMIM:182250

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 Uggt1

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 Uggt1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
UGGT1 enhances enterovirus 71 pathogenicity by promoting viral RNA synthesis and viral replication. PLoS pathogens (May 2017) Uggt1tm1a(KOMP)Wtsi PMC5435352

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MGI Allele Allele Type Produced
Uggt1em1(IMPC)Mbp Exon Deletion Mice, Tissue
Uggt1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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