Gene Summary

Name:
UbiA prenyltransferase domain containing 1
Synonyms:
Tere1,  1200002M06Rik

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
embryonic lethality prior to organogenesis Ubiad1em1(IMPC)J HOM   E9.5 0.00
preweaning lethality, complete penetrance Ubiad1em1(IMPC)J HOM   Early adult 0.00

Download data as:  TSV  XLS

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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 Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Human diseases caused by Ubiad1 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 Ubiad1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800

The table below shows human diseases predicted to be associated to Ubiad1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Megalocornea
Megalocornea OMIM:249300
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Macular Corneal Dystrophy
Decreased corneal sensation, Decreased corneal thickness, Opacification of the corneal stroma, Co... ORPHA:98969
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Hyperlysinemia Due To Defect In Lysine Transport Into Mitochondria
Mitochondrial lysine transport defect, Hyperlysinemia OMIM:238710
Familial pterygium of the conjunctiva
Opacification of the corneal stroma ORPHA:2989
Macular Dystrophy, Corneal
Corneal dystrophy, Punctate opacification of the cornea, Recurrent corneal erosions OMIM:217800
Corneal Dystrophy, Subepithelial Mucinous
Corneal dystrophy OMIM:612867
Corneal Dystrophy, Reis-Bucklers Type
Corneal dystrophy, Opacification of the corneal stroma, Corneal erosion OMIM:608470
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Central corneal dystrophy, Opacification of the corneal stroma, ... ORPHA:98960
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Facial Paresis, Hereditary Congenital, 1
Decreased corneal reflex OMIM:601471
Fish-Eye Disease
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Opacification of the corneal stro... OMIM:136120
Corneal Hypesthesia, Familial
Decreased corneal sensation, Recurrent corneal erosions OMIM:122450
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Ocular Cystinosis
Corneal crystals ORPHA:411641
Corneal Endothelial Dystrophy
Increased corneal thickness, Congenital corneal dystrophy, Opacification of the corneal stroma, A... OMIM:217700
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Dermoids Of Cornea
Corneal opacity OMIM:304730
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Corneal Dystrophy, Lattice Type I
Lattice corneal dystrophy, Recurrent corneal erosions OMIM:122200
Cornea Plana 2, Autosomal Recessive
Flat cornea, Decreased corneal thickness, Corneal arcus OMIM:217300
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract, Decreased activity of mitochondrial respiratory chain OMIM:613076
Peters Anomaly
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... ORPHA:708
Lattice Corneal Dystrophy Type I
Decreased corneal sensation, Recurrent corneal erosions, Central posterior corneal opacity, Subep... ORPHA:98964
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia OMIM:148200
Anterior Segment Dysgenesis 1
Posterior polar cataract, Ocular anterior segment dysgenesis, Peters anomaly, Opacification of th... OMIM:107250
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Corneal astigmatism, Abnormal cornea morphology, Conjunctival de... OMIM:180550
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal degeneration, Corneal stromal edema, Corneal guttata, Corneal dy... OMIM:136800
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Corneal crystals OMIM:219900
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Mildly elevated creatine kinase, Increased mitochondrial number ORPHA:457050
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Amyloidosis Of Gingiva And Conjunctiva, With Mental Retardation
Opacification of the corneal stroma OMIM:204850
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Corneal opacity, Nuclear cataract, Abnormal corneal endothelium morphology ORPHA:293621
Amoebic Keratitis
Decreased corneal sensation, Abnormal corneal epithelium morphology, Corneal perforation, Catarac... ORPHA:67043
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Opacification of the corneal stroma, Decreased HDL cholesterol concentration OMIM:245900
Autosomal Dominant Keratitis
Aniridia, Cataract, Keratitis, Microcornea, Opacification of the corneal stroma, Hypoplastic iris... ORPHA:2334
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy OMIM:271320
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Decreased activity of mitochondrial complex IV, Hyperglycinemia, Increased mitochondrial number OMIM:619063
Limbal Stem Cell Deficiency
Decreased corneal reflex, Generalized opacification of the cornea, Opacification of the corneal e... ORPHA:171673
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616829
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial complex IV, Abnormal mitochondrial morphology OMIM:618378
Morquio Syndrome C
Corneal opacity OMIM:252300
Corneal Dystrophy, Lattice Type Iiia
Lattice corneal dystrophy, Corneal erosion OMIM:608471
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor OMIM:614278
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Abnormal mitochondrial morphology OMIM:618528
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal stromal edema, Keratitis, Corneal guttata, Abnormal Descemet membrane morphology, Corneal... OMIM:613270
Tricarboxylic Acid Cycle, Defect Of
Decreased activity of the pyruvate dehydrogenase complex OMIM:275370
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HD... OMIM:615703
Corneal Dystrophy, Posterior Polymorphous, 1
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... OMIM:122000
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal degeneration, Corneal dystrophy OMIM:610158
Corneal Dystrophy, Fleck
Speckled corneal dystrophy OMIM:121850
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:603776
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Combined Oxidative Phosphorylation Deficiency 46
Decreased activity of mitochondrial complex IV, Decreased activity of mitochondrial complex I OMIM:618952
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Cataract, Band keratopathy OMIM:604278
Mucopolysaccharidoses, Unclassified Types
Opacification of the corneal stroma OMIM:252700
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Dna2-Related Mitochondrial Dna Deletion Syndrome
Elevated creatine kinase after exercise, Decreased mitochondrial number ORPHA:352470
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Combined Oxidative Phosphorylation Deficiency 49
Decreased activity of mitochondrial complex III, Decreased activity of mitochondrial complex II, ... OMIM:619024
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Galactosialidosis
Corneal opacity ORPHA:351
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Analbuminemia
Elevated circulating transferrin concentration, Hypercholesterolemia, Increased LDL cholesterol c... OMIM:616000
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Juvenile epithelial corneal dystrophy, Corneal dystrophy OMIM:602082
Cataract 1, Multiple Types
Developmental cataract, Pulverulent cataract, Nuclear cataract, Posterior subcapsular cataract, M... OMIM:116200
Norrie Disease
Hypoplasia of the iris, Cataract, Shallow anterior chamber, Opacification of the corneal stroma OMIM:310600
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Herpes Simplex Virus Stromal Keratitis
Descemet Membrane Folds, Decreased corneal sensation, Corneal perforation, Deep anterior chamber,... ORPHA:137599
Winchester Syndrome
Corneal opacity OMIM:277950
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Apolipoprotein A-I Deficiency
Corneal opacity, Decreased HDL cholesterol concentration ORPHA:425
Hsd10 Mitochondrial Disease
Abnormal mitochondrial morphology OMIM:300438
Cataract 47
Cataract, Microcornea OMIM:612018
Infantile Nephropathic Cystinosis
Hypophosphatemia, Abnormal blood ion concentration, Abnormal cornea morphology, Hypokalemia, Corn... ORPHA:411629
Anterior Segment Dysgenesis 6
Developmental glaucoma, Corneal opacity, Corneal neovascularization, Posterior synechiae of the a... OMIM:617315
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity OMIM:252650
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Corneal dystrophy OMIM:609141
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Hypouricemia, Elevated circulating creatinine concentration, Hypo... ORPHA:411634
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Corneal opacity, Increased corneal thickness, Corneal stromal edema, Abnor... ORPHA:293603
Pyruvate Dehydrogenase Phosphatase Deficiency
Hyperalaninemia, Decreased activity of the pyruvate dehydrogenase complex, Hyperprolinemia ORPHA:79246
Edict Syndrome
Keratoconus, Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism OMIM:614303
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Cataract 21, Multiple Types
Cortical pulverulent cataract, Microcornea, Iris coloboma, Cerulean cataract OMIM:610202
Barth Syndrome
Abnormal mitochondrial morphology OMIM:302060
Cystinosis, Nephropathic
Decreased plasma carnitine, Hypophosphatemic rickets, Hyponatremia, Corneal crystals, Recurrent c... OMIM:219800
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Anterior Segment Dysgenesis 7
Buphthalmos, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:269400
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Iris pigment dispersion, Pigment deposition in the trabecular meshwor... ORPHA:69736
Chromosome 8Q21.11 Deletion Syndrome
Opacification of the corneal stroma OMIM:614230
Anterior Segment Dysgenesis 3
Rieger anomaly, Axenfeld anomaly, Posterior embryotoxon, Ectopia pupillae, Peters anomaly, Abnorm... OMIM:601631
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Decreased circulating apol... OMIM:207750
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Hypercholesterolemia, Familial, 1
Xanthelasma, Increased LDL cholesterol concentration, Corneal arcus OMIM:143890
Cowden syndrome 3
Abnormality of mitochondrial metabolism OMIM:615106
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia OMIM:612526
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Decreased circulating c... OMIM:616828
Keratoconus Posticus Circumscriptus
Central posterior corneal opacity, Keratoconus OMIM:244600
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Decreased activity of mitochondrial complex IV, Decreased activity of mitochondrial complex I, De... OMIM:500013
Spastic Paraplegia Type 7
Abnormal mitochondrial morphology ORPHA:99013
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology ORPHA:275872
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Abnormality of the mitochondrion, Elevated circulating long chain fatty acid co... OMIM:214110
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma OMIM:169550
Epithelial Recurrent Erosion Dystrophy
Irregular astigmatism, Recurrent corneal erosions, Subepithelial corneal opacities, Corneal scarr... ORPHA:293381
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal scarring, Keratitis, Opacification of the corneal stroma, Corneal ulceration, Recurrent c... OMIM:256800
Cataract 17, Multiple Types
Microcornea, Developmental cataract, Pulverulent cataract, Nuclear cataract OMIM:611544
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Mucolipidosis Iii Gamma
Opacification of the corneal stroma, Increased serum beta-hexosaminidase OMIM:252605
Anterior Segment Dysgenesis 5
Developmental cataract, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Peters ano... OMIM:604229
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Abnormality of the mitochondrion ORPHA:91130
Pyruvate Dehydrogenase Phosphatase Deficiency
Decreased activity of the pyruvate dehydrogenase complex OMIM:608782
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Sclerocornea ORPHA:83461
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma OMIM:215250
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mitochondrial swelling, Mildly elevated creatine kinase ORPHA:397744
Aniridia 1
Aniridia, Anterior subcapsular cataract, Corneal erosion, Ectopia lentis, Hypoplasia of the iris,... OMIM:106210
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... ORPHA:70476
Tangier Disease
Opacification of the corneal stroma, Decreased HDL cholesterol concentration OMIM:205400
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma, Increased circulating cortisol level ORPHA:3453
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma OMIM:256540
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Elevated circulating creatine kinase concentration, Decreased mitochondrial number ORPHA:352447
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Elevated circulating creatine kinase concentration, Opacification of the corneal stroma OMIM:615287
Oculoauricular Syndrome
Microphakia, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:612109
Brachymesomelia-Renal Syndrome
Opacification of the corneal stroma OMIM:113470
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Posterior embryotoxon, Iris coloboma, Corneal opacity ORPHA:1473
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Cataract, Peters anomaly, Microcor... OMIM:610256
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hypercholesterolemia, Lactescent serum, Hyperlip... OMIM:238600
Axenfeld-Rieger Syndrome, Type 2
Anterior chamber synechiae, Microcornea, Opacification of the corneal stroma OMIM:601499
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Uveal ectropion, Corneal opacity, Ectopia pupillae, Corneal stromal ... ORPHA:98973
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Myopathy With Lactic Acidosis, Hereditary
Decreased activity of mitochondrial complex III, Decreased activity of mitochondrial complex II, ... OMIM:255125
Brittle Cornea Syndrome 2
Keratoconus, Decreased corneal thickness, Keratoglobus, Megalocornea, Flat cornea, Sclerocornea OMIM:614170
Generalized Eruptive Keratoacanthoma
Conjunctivitis, Keratoconjunctivitis sicca, Abnormal cornea morphology ORPHA:411777
Neurotrophic Keratopathy
Decreased corneal sensation, Corneal perforation, Corneal scarring, Corneal stromal edema, Cornea... ORPHA:137596
Mucolipidosis Iii Alpha/Beta
Hyperopic astigmatism, Opacification of the corneal stroma, Increased serum beta-hexosaminidase OMIM:252600
Laron Syndrome
Hypercholesterolemia ORPHA:633
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Cataract, Opacification of the corneal stroma OMIM:211370
Pseudo-Torch Syndrome 1
Cataract, Opacification of the corneal stroma OMIM:251290
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Hypoalbuminemia, Hypertriglyceridemia, Abnormal circulating lipid concentra... ORPHA:567548
Microphthalmia, Isolated 3
Sclerocornea OMIM:611038
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of the mitochondrion ORPHA:330050
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Corneal scarring, Corneal ulceration OMIM:616488
Salih Myopathy
Elevated circulating creatine kinase concentration, Mitochondrial depletion OMIM:611705
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma OMIM:601853
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Hypoalbuminemia, Increased alpha-globulin, Hyperlipidemia ORPHA:86816
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration ORPHA:209902
Galactokinase Deficiency
Hypercholesterolemia, Increased level of galactitol in plasma, Hypergalactosemia ORPHA:79237
Oligoarticular Juvenile Idiopathic Arthritis
Cataract, Anterior chamber synechiae, Band keratopathy ORPHA:85410
Atopic Keratoconjunctivitis
Chemosis, Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Corneal neovascularization ORPHA:163934
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Cataract, Abnormal mitochondrial shape ORPHA:543470
Mucoepithelial Dysplasia, Hereditary
Keratoconjunctivitis, Cataract, Opacification of the corneal stroma, Corneal neovascularization OMIM:158310
Chromosome 6Pter-P24 Deletion Syndrome
Posterior embryotoxon, Axenfeld anomaly, Ocular anterior segment dysgenesis, Peters anomaly, Opac... OMIM:612582
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cataract, Brushfield spots, Opacification of the corneal stroma OMIM:614866
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hypertyrosinemia, Hyperthreonin... ORPHA:247598
Schimke Immunoosseous Dysplasia
Astigmatism, Opacification of the corneal stroma OMIM:242900
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypoalbuminemia, Elevat... ORPHA:64753
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Acute hyperammonemia, Hypertriglyceridemia, Hypoalbuminemi... ORPHA:247585
Sitosterolemia 1
Hypercholesterolemia, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration OMIM:210250
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Steatorrhea, Hypertriglyceridemia, Decreased HDL cholesterol concentration,... OMIM:278000
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Opacification of the corneal stroma, Recurrent corneal erosions OMIM:308205
Dysbetalipoproteinemia
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration,... ORPHA:412
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape ORPHA:412217
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia ORPHA:528
Lcat Deficiency
Hypertriglyceridemia, Corneal opacity ORPHA:650
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Anterior cortical cataract, Corneal dystrophy OMIM:221800
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma ORPHA:583
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Subaortic Stenosis--Short Stature Syndrome
Opacification of the corneal stroma, Microcornea OMIM:271960
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cataract, Brushfield spots, Opacification of the corneal stroma, Elevated circulating long chain ... OMIM:214100
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Corneal scarring, Abnormality of corneal stroma, Keratoconjunctivitis sicca, Corneal ulceration, ... OMIM:148210
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number ORPHA:263297
Fish-Eye Disease
Corneal opacity, Decreased HDL cholesterol concentration ORPHA:79292
Carpenter Syndrome 1
Opacification of the corneal stroma, Microcornea OMIM:201000
Hurler Syndrome
Opacification of the corneal stroma, Corneal opacity OMIM:607014
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma OMIM:253000
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Mucopolysaccharidosis, Type Ivb
Opacification of the corneal stroma OMIM:253010
Oculoectodermal Syndrome
Astigmatism, Opacification of the corneal stroma, Microcornea, Limbal dermoid OMIM:600268
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Lathosterolosis
Cataract, Opacification of the corneal stroma, Microcornea ORPHA:46059
Farber Disease
Opacification of the corneal stroma, Corneal opacity, Abnormal conjunctiva morphology ORPHA:333
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Abnormality of mitochondrial metabolism ORPHA:1192
Gaucher Disease, Type Iiic
Opacification of the corneal stroma OMIM:231005
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Reticular Dysgenesis
Abnormality of mitochondrial metabolism ORPHA:33355
Multiple Mitochondrial Dysfunctions Syndrome 3
Abnormality of mitochondrial metabolism OMIM:615330
Brittle Cornea Syndrome 1
Keratoconus, Decreased corneal thickness, Abnormal cornea morphology, Keratoglobus OMIM:229200
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Keratoconjunctivitis, Steatorrhea, Band keratopathy OMIM:269200
Isolated Optic Nerve Hypoplasia/Aplasia
Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:137902
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Stuve-Wiedemann Syndrome
Opacification of the corneal stroma OMIM:601559
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Cataract, Opacification of the corneal stroma, Hypoalbuminemia OMIM:251300
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Persistent pupillary membrane, Leukocoria, Iris coloboma, ... OMIM:221900
Mucolipidosis Ii Alpha/Beta
Megalocornea, Opacification of the corneal stroma, Increased serum beta-hexosaminidase OMIM:252500
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia OMIM:249310
Mucopolysaccharidosis, Type Vi
Opacification of the corneal stroma OMIM:253200
Mosaic Trisomy 1
Opacification of the corneal stroma ORPHA:1692
Bartsocas-Papas Syndrome 2
Antecubital pterygium, Popliteal pterygium, Axillary pterygium, Corneal opacity OMIM:619339
Intermediate Uveitis
Posterior synechiae of the anterior chamber, Cataract, Band keratopathy ORPHA:279914
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Lathosterolosis
Cataract, Hyperbilirubinemia, Opacification of the corneal stroma, Abnormal circulating cholester... OMIM:607330
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Cutis Laxa, Autosomal Recessive, Type Iiia
Cataract, Corneal arcus OMIM:219150
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Decreased activity of mitochondrial complex III, Decreased activity of mitochondrial complex IV, ... ORPHA:17
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:370
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the mitochondrion, Hyperalaninemia ORPHA:298
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma ORPHA:79280
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:264580
Noonan Syndrome 9
Prominent corneal nerve fibers OMIM:616559
H Syndrome
Hypertriglyceridemia, Azoospermia, Corneal arcus ORPHA:168569
Xeroderma Pigmentosum
Conjunctival telangiectasia, Cataract, Keratitis, Pterygium, Opacification of the corneal stroma ORPHA:910
Mucopolysaccharidosis Type 3
Cataract, Opacification of the corneal stroma, Corneal opacity ORPHA:581
Progeria-Short Stature-Pigmented Nevi Syndrome
Cataract, Band keratopathy ORPHA:2959
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:151660
Cockayne Syndrome B
Hypoplasia of the iris, Cataract, Opacification of the corneal stroma, Microcornea OMIM:133540
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Cataract, Megalocornea, Opacification of the corneal stroma, Elevated circulating cr... OMIM:253280
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Hypercholesterolemia, Neonatal hyperbilirubinemia ORPHA:90674
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Mietens Syndrome
Cataract, Microcornea, Corneal opacity, Sclerocornea ORPHA:2557
Bartsocas-Papas Syndrome 1
Axillary pterygium, Pterygium, Opacification of the corneal stroma, Corneal ulceration, Popliteal... OMIM:263650
Alagille Syndrome 1
Hypercholesterolemia, Axenfeld anomaly, Posterior embryotoxon, Cataract, Hypertriglyceridemia, Mi... OMIM:118450
Hereditary Acrokeratotic Poikiloderma
Opacification of the corneal stroma, Keratoconjunctivitis ORPHA:2907
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Abnormality of mitochondrial metabolism ORPHA:88639
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Hyperglyci... ORPHA:470
Blau Syndrome
Cataract, Band keratopathy, Iritis OMIM:186580
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Cataract, Abnormality of mitochondrial metabolism, Hyperalaninemia, Hyperammonemia OMIM:614052
Hsd10 Disease, Infantile Type
Abnormality of mitochondrial metabolism, Hyperammonemia ORPHA:391428
Coloboma, Ocular, Autosomal Dominant
Peters anomaly, Corneal opacity OMIM:120200
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Cockayne Syndrome A
Cataract, Opacification of the corneal stroma OMIM:216400
Knobloch Syndrome 1
Developmental cataract, Band keratopathy OMIM:267750
Sialuria
Abnormality of the mitochondrion ORPHA:3166
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Hypocalcemic tetany, Cataract, Conjunctivitis, Calcinosis, Band keratopathy, Hyperp... ORPHA:79443
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hypercholesterolemia, Hyponatremia, Steatorrhea, Hypertriglyceridemia, Hyperkalemia ORPHA:275761
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cataract, Abnormality of mitochondrial metabolism ORPHA:314404
Manganese Poisoning
Abnormality of mitochondrial metabolism ORPHA:306682
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia, Hyperlipidemia ORPHA:79259
Histiocytosis-Lymphadenopathy Plus Syndrome
Azoospermia, Corneal arcus OMIM:602782
Fryns Syndrome
Opacification of the corneal stroma OMIM:229850
Ciliary Dyskinesia, Primary, 1
Abnormal cornea morphology, Abnormal respiratory motile cilium morphology OMIM:244400
Cockayne Syndrome
Developmental cataract, Lentiglobus, Hyperuricemia, Cataract, Keratoconjunctivitis sicca, Abnorma... ORPHA:191
Proteasome-Associated Autoinflammatory Syndrome 1
Conjunctivitis, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Decr... OMIM:256040
Proximal Renal Tubular Acidosis
Bicarbonaturia, Cataract, Hypokalemia, Hyperuricosuria, Band keratopathy ORPHA:47159
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypoammonemia, Hypercholesterolemia, Hyponatremia, Hyperaldosteronism, Hypokalemia ORPHA:534
Autosomal Dominant Progressive External Ophthalmoplegia
Elevated circulating creatine kinase concentration, Abnormality of the mitochondrion, Cataract ORPHA:254892
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Increased LDL cholesterol concentration, Hyperlipidemia ORPHA:391665
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Noonan Syndrome 10
Prominent corneal nerve fibers OMIM:616564
Lowe Oculocerebrorenal Syndrome
Hypercholesterolemia, Elevated amniotic fluid alpha-fetoprotein, Bicarbonaturia, Elevated materna... OMIM:309000
Tangier Disease
Hypertriglyceridemia, Corneal opacity, Hypocholesterolemia ORPHA:31150
Roberts-Sc Phocomelia Syndrome
Cataract, Opacification of the corneal stroma OMIM:268300
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Abnormality of mitochondrial metabolism OMIM:203700
Multiple Endocrine Neoplasia Type 2
Hypercalcemia, Prominent corneal nerve fibers ORPHA:653
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Developmental cataract, Polycoria, Corneal opacity, Hypoplasia of the iris, Ectopia pupillae, Mic... OMIM:175780

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 Ubiad1

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 Ubiad1.

No publications found that use IMPC mice or data for Ubiad1.

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MGI Allele Allele Type Produced
Ubiad1tm46504(L1L2_gt1) Targeting vectors
Ubiad1em1(IMPC)J Exon Deletion Mice
Ubiad1tm46504(L1L2_Bact_P) Targeting vectors

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