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Gene: Ugt1a6b MGI:3580629

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Gene Summary

Name:
UDP glucuronosyltransferase 1 family, polypeptide A6B
Synonyms:
A9'

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
anophthalmia Ugt1a6bem1(IMPC)Bay HOM E18.5 0.00
microphthalmia Ugt1a6bem1(IMPC)Bay HOM E18.5 0.00

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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.

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MicroCT E18.5

Embryo reconstruction

8 Images

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Human diseases caused by Ugt1a6b 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 Ugt1a6b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Nanophthalmos 4
Microphthalmia OMIM:615972
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia OMIM:613703
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Gombo Syndrome
Microphthalmia OMIM:233270
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia OMIM:615113
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Microphthalmia OMIM:221950
Nanophthalmos
Microphthalmia ORPHA:35612
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Anencephaly 2
Anophthalmia OMIM:619452
Congenital Primary Aphakia
Congenital aphakia, Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye ORPHA:83461
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Mmep Syndrome
Microphthalmia ORPHA:3434
Myopia 27, Autosomal Dominant
Increased axial length of the globe OMIM:618827
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos OMIM:608763
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia OMIM:212550
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610125
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Solitary Median Maxillary Central Incisor
Anophthalmia, Microphthalmia OMIM:147250
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microphthalmia ORPHA:139471
Isolated Optic Nerve Hypoplasia/Aplasia
Optic nerve hypoplasia, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microph... ORPHA:137902
Trisomy 13
Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia ORPHA:3378
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Microphthalmia ORPHA:77298
Hydrolethalus
Anophthalmia, Microphthalmia ORPHA:2189
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia OMIM:206920
Matthew-Wood Syndrome
Anophthalmia, Microphthalmia ORPHA:2470
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Cofs Syndrome
Microphthalmia ORPHA:1466
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Cockayne Syndrome Type 2
Anophthalmia ORPHA:90322
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Walker-Warburg Syndrome
Anophthalmia, Microphthalmia ORPHA:899
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Pierpont Syndrome
Microphthalmia ORPHA:487825
Trisomy 1Q
Anophthalmia ORPHA:261344
Joubert Syndrome 22
Microphthalmia OMIM:615665
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Autosomal Dominant Keratitis
Hypoplastic iris stroma, Hypoplasia of the fovea, Bilateral microphthalmos, Macular hypoplasia, A... ORPHA:2334
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Lissencephaly 8
Microphthalmia OMIM:617255
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Microphthalmia OMIM:615877
Temtamy Syndrome
Microphthalmia ORPHA:1777
Pierpont Syndrome
Microphthalmia OMIM:602342
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Congenital Toxoplasmosis
Microphthalmia ORPHA:858
Anterior Segment Dysgenesis 2
Congenital aphakia, Anterior segment of eye aplasia, Aniridia, Microphthalmia OMIM:610256
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Seckel Syndrome 2
Microphthalmia OMIM:606744
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Microphthalmia ORPHA:2250
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:290
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Optic nerve aplasia, Anophthalmia, Microphthalmia OMIM:206900
Microphthalmia, Syndromic 9
Anophthalmia, Bilateral microphthalmos OMIM:601186
Rodrigues Blindness
Microphthalmia OMIM:268320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Anophthalmia, Aniridia ORPHA:1101
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Vacterl With Hydrocephalus
Anophthalmia, Microphthalmia ORPHA:3412
Joubert Syndrome 21
Anophthalmia OMIM:615636
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:85194
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Cockayne Syndrome Type 1
Anophthalmia ORPHA:90321
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Bresek Syndrome
Optic nerve hypoplasia, Microphthalmia ORPHA:85284
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Microphthalmia OMIM:120200
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Fibular Hemimelia
Anophthalmia ORPHA:93323
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Microphthalmia OMIM:615249
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Bilateral microphthalmos OMIM:600122
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Joubert Syndrome 14
Microphthalmia OMIM:614424
Microgastria-Limb Reduction Defects Association
Anophthalmia OMIM:156810
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Cerebrooculonasal Syndrome
Optic nerve hypoplasia, Anophthalmia OMIM:605627
Holoprosencephaly
Anophthalmia, Microphthalmia ORPHA:2162
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Joubert Syndrome 37
Microphthalmia OMIM:619185
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
Gracile Bone Dysplasia
Aniridia, Microphthalmia OMIM:602361
Monosomy 18P
Microphthalmia ORPHA:1598
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Microphthalmia OMIM:152950
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Microphthalmia OMIM:618914
Meckel Syndrome, Type 2
Microphthalmia OMIM:603194
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Holoprosencephaly 9
Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610829
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Microgastria-Limb Reduction Defect Syndrome
Anophthalmia, Microphthalmia ORPHA:2538
Norrie Disease
Buphthalmos, Hypoplasia of the iris, Microphthalmia OMIM:310600
Meckel Syndrome
Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia ORPHA:564
Otodental Syndrome
Lens coloboma, Microphthalmia ORPHA:2791
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Baraitser-Winter Syndrome 1
Microphthalmia OMIM:243310
Moebius Syndrome
Microphthalmia OMIM:157900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Microphthalmia ORPHA:370959
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Microphthalmia ORPHA:2526
Congenital Fibrinogen Deficiency
Microphthalmia ORPHA:335
Rere-Related Neurodevelopmental Syndrome
Microphthalmia ORPHA:494344
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Microphthalmia OMIM:609053
Meckel Syndrome, Type 4
Microphthalmia OMIM:611134
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Microphthalmia OMIM:600123
Refsum Disease
Microphthalmia ORPHA:773
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia OMIM:616734
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Warburg Micro Syndrome 3
Microphthalmia OMIM:614222
Trichothiodystrophy 3, Photosensitive
Microphthalmia OMIM:616395
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Microphthalmia ORPHA:2556
Proboscis Lateralis
Optic nerve hypoplasia, Anophthalmia, Microphthalmia ORPHA:141099
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia ORPHA:2728
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Ritscher-Schinzel Syndrome 3
Microphthalmia OMIM:619135
Warburg Micro Syndrome 2
Microphthalmia OMIM:614225
Microphthalmia, Syndromic 2
Phthisis bulbi, Anophthalmia, Microphthalmia OMIM:300166
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Marden-Walker Syndrome
Microphthalmia OMIM:248700
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Macular hypoplasia, Phthisis bulbi, Microphthalmia ORPHA:91495
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Phthisis bulbi, Microphthalmia OMIM:221900
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia ORPHA:2505
Charge Syndrome
Anophthalmia, Microphthalmia ORPHA:138
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia OMIM:613001
Fraser Syndrome 1
Anophthalmia, Bilateral microphthalmos OMIM:219000
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Microphthalmia ORPHA:3301
Focal Dermal Hypoplasia
Aniridia, Anophthalmia, Microphthalmia OMIM:305600
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos ORPHA:369891
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
Isolated Arrhinia
Microphthalmia ORPHA:1134
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Fraser Syndrome
Anophthalmia, Microphthalmia ORPHA:2052
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Micro Syndrome
Microphthalmia ORPHA:2510
Kapur-Toriello Syndrome
Microphthalmia OMIM:244300
Adams-Oliver Syndrome
Microphthalmia ORPHA:974
Osteoporosis-Pseudoglioma Syndrome
Phthisis bulbi, Microphthalmia OMIM:259770
Microphthalmia With Limb Anomalies
True anophthalmia, Microphthalmia ORPHA:1106
Phace Association
Optic nerve hypoplasia, Microphthalmia OMIM:606519
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Frontorhiny
Microphthalmia ORPHA:391474
Martsolf Syndrome 1
Microphthalmia OMIM:212720
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia OMIM:619148
Subaortic Stenosis--Short Stature Syndrome
Microphthalmia OMIM:271960
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Frontonasal Dysplasia 2
Microphthalmia OMIM:613451
Oculoauricular Syndrome
Microphakia, Phthisis bulbi, Macular hypoplasia, Microphthalmia OMIM:612109
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia OMIM:614230
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Charge Syndrome
Anophthalmia, Unilateral microphthalmos, Microphthalmia OMIM:214800
Microphthalmia, Lenz Type
Microphthalmia ORPHA:568
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Microphthalmia OMIM:614643
Stromme Syndrome
Optic nerve hypoplasia, Microphthalmia OMIM:243605
Microphthalmia, Syndromic 6
Anophthalmia, Microphthalmia OMIM:607932
Pierson Syndrome
Microphthalmia, Rieger anomaly, Hypoplasia of the iris, Hypoplasia of the ciliary body, Macular h... OMIM:609049
Pseudotrisomy 13 Syndrome
Microphthalmia OMIM:264480
Mosaic Trisomy 1
Microphthalmia ORPHA:1692
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Fanconi Anemia, Complementation Group F
Microphthalmia OMIM:603467
Meckel Syndrome 14
Microphthalmia OMIM:619879
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Cousin Syndrome
Microphthalmia OMIM:260660
Mosaic Trisomy 9
Microphthalmia ORPHA:99776
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos OMIM:618874
Fanconi Anemia, Complementation Group E
Microphthalmia OMIM:600901
Joubert Syndrome 2
Microphthalmia OMIM:608091
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Microphthalmia OMIM:607323
Branchiooculofacial Syndrome
Anophthalmia, Microphthalmia OMIM:113620
Cohen Syndrome
Microphthalmia ORPHA:193
Fryns Syndrome
Microphthalmia ORPHA:2059
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Microphthalmia OMIM:251300
Papillorenal Syndrome
Microphthalmia OMIM:120330
Fanconi Anemia, Complementation Group A
Microphthalmia OMIM:227650
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia ORPHA:464738
Steinfeld Syndrome
Microphthalmia OMIM:184705
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia OMIM:253800
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia OMIM:616300
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Optic nerve hypoplasia, Microphthalmia OMIM:236670
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Focal Dermal Hypoplasia
Hypoplasia of the iris, Microphthalmia ORPHA:2092
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos ORPHA:2839
1Q21.1 Microdeletion Syndrome
Microphthalmia ORPHA:250989
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Mycophenolate Mofetil Embryopathy
Microphthalmia ORPHA:268249
2Q31.1 Microdeletion Syndrome
Microphthalmia ORPHA:251014
Fanconi Anemia, Complementation Group C
Microphthalmia OMIM:227645
Jacobsen Syndrome
Macular hypoplasia, Microphthalmia OMIM:147791
Cat Eye Syndrome
Microphthalmia OMIM:115470
Kenny-Caffey Syndrome, Type 2
Microphthalmia OMIM:127000
Dubowitz Syndrome
Hypoplasia of the iris, Microphthalmia OMIM:223370
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Microphthalmia ORPHA:959
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia OMIM:308300
Trisomy 18
Microphthalmia ORPHA:3380
Hallermann-Streiff Syndrome
Microphthalmia OMIM:234100
Incontinentia Pigmenti
Microphthalmia ORPHA:464
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Monosomy 9Q22.3
Microphthalmia ORPHA:77301
Histiocytoid Cardiomyopathy
Congenital aphakia, Microphthalmia ORPHA:137675
Basal Cell Nevus Syndrome
Microphthalmia OMIM:109400
Pallister-Hall Syndrome
Microphthalmia OMIM:146510
Phace Syndrome
Optic nerve hypoplasia, Lens coloboma, Microphthalmia ORPHA:42775
Fanconi Anemia, Complementation Group L
Microphthalmia OMIM:614083
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Microphthalmia ORPHA:508498
Fanconi Anemia, Complementation Group D2
Microphthalmia OMIM:227646
Rothmund-Thomson Syndrome, Type 2
Microphthalmia OMIM:268400
Hallermann-Streiff Syndrome
Microphthalmia ORPHA:2108
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Aicardi Syndrome
Microphthalmia ORPHA:50
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia OMIM:620005
Cockayne Syndrome B
Hypoplasia of the iris, Microphthalmia OMIM:133540
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia ORPHA:1052
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microphthalmia OMIM:616975
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia ORPHA:2166
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia ORPHA:3186
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia OMIM:309801
Treacher-Collins Syndrome
Microphthalmia ORPHA:861
Mend Syndrome
Microphthalmia ORPHA:401973
Craniofacial Microsomia
Anophthalmia, Microphthalmia OMIM:164210
Aicardi Syndrome
Microphthalmia OMIM:304050
Monosomy 13Q14
Microphthalmia ORPHA:1587
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hypoplasia of the retina, Buphthalmos, Microphthalmia OMIM:253280
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Bartsocas-Papas Syndrome 1
Microphthalmia OMIM:263650
Microphthalmia, Syndromic 1
Anophthalmia, Microphthalmia OMIM:309800
Cockayne Syndrome Type 3
Microphthalmia ORPHA:90324
Trichothiodystrophy
Bilateral microphthalmos ORPHA:33364
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia OMIM:609945
Monosomy 9P
Microphthalmia ORPHA:261112
Roberts Syndrome
Microphthalmia ORPHA:3103
Fanconi Anemia
Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:84
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia ORPHA:306542
Tetraamelia Syndrome 1
Microphthalmia OMIM:273395
Myhre Syndrome
Microphthalmia OMIM:139210
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Microphthalmia ORPHA:534
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic nerve hypoplasia, Bilateral microphthalmos ORPHA:468631
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia OMIM:608670
22Q11.2 Deletion Syndrome
Microphthalmia ORPHA:567
Chromosome 13Q14 Deletion Syndrome
Microphthalmia OMIM:613884
Cockayne Syndrome
Microphthalmia ORPHA:191
Holoprosencephaly 7
Bilateral microphthalmos OMIM:610828
Fryns Syndrome
Microphthalmia OMIM:229850
Adams-Oliver Syndrome 1
Microphthalmia OMIM:100300
Meckel Syndrome, Type 1
Microphthalmia OMIM:249000
Degcags Syndrome
Microphthalmia OMIM:619488
Fontaine Progeroid Syndrome
Microphthalmia OMIM:612289
Yunis-Varon Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:3472
Renpenning Syndrome 1
Microphthalmia OMIM:309500
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos ORPHA:93325
Lowe Oculocerebrorenal Syndrome
Microphthalmia OMIM:309000
Neu-Laxova Syndrome 1
Microphthalmia OMIM:256520
Neuroocular Syndrome
Hypoplasia of the fovea, Lens coloboma, Microphthalmia OMIM:619539
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Hydrolethalus Syndrome 1
Microphthalmia OMIM:236680
Norrie Disease
Hypoplasia of the iris, Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:649
Holoprosencephaly 1
Microphthalmia OMIM:236100
Witteveen-Kolk Syndrome
Microphthalmia OMIM:613406
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia OMIM:175780
Holoprosencephaly 2
Microphthalmia OMIM:157170
Pallister-Hall Syndrome
Microphthalmia ORPHA:672
Townes-Brocks Syndrome
Microphthalmia ORPHA:857
Mowat-Wilson Syndrome
Microphthalmia OMIM:235730
Roberts-Sc Phocomelia Syndrome
Microphthalmia OMIM:268300
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Microphthalmia ORPHA:261537
Mowat-Wilson Syndrome
Microphthalmia ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Microphthalmia ORPHA:261552
8Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Bilateral microphthalmos ORPHA:508488

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 Ugt1a6b

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 Ugt1a6b.

No publications found that use IMPC mice or data for Ugt1a6b.

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MGI Allele Allele Type Produced
Ugt1a6bem1(IMPC)Bay Intra-exon deletion Mice

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