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Gene: Vwc2l MGI:2444069

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Gene Summary

Name:
von Willebrand factor C domain-containing protein 2-like
Synonyms:
brorin-like,  Brl,  A830006F12Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal eye morphology Vwc2lem1(IMPC)Mbp HOM Early adult 0.00
microphthalmia Vwc2lem1(IMPC)Mbp 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 Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Histopathology

Images

9 Images

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Human diseases caused by Vwc2l 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 Vwc2l 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
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Gombo Syndrome
Microphthalmia OMIM:233270
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Nanophthalmos 4
Microphthalmia OMIM:615972
Nanophthalmos
Microphthalmia ORPHA:35612
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Mmep Syndrome
Microphthalmia ORPHA:3434
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Cofs Syndrome
Microphthalmia ORPHA:1466
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Pierpont Syndrome
Microphthalmia ORPHA:487825
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Pierpont Syndrome
Microphthalmia OMIM:602342
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Congenital Primary Aphakia
Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita... ORPHA:83461
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Congenital Toxoplasmosis
Microphthalmia ORPHA:858
Temtamy Syndrome
Microphthalmia ORPHA:1777
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp... ORPHA:2334
Joubert Syndrome 22
Microphthalmia OMIM:615665
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Lissencephaly 8
Microphthalmia OMIM:617255
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia OMIM:613730
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Anterior Segment Dysgenesis 2
Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia OMIM:610256
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Congenital Rubella Syndrome
Microphthalmia, Aplasia/Hypoplasia of the iris ORPHA:290
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Seckel Syndrome 2
Microphthalmia OMIM:606744
Bresek Syndrome
Optic nerve hypoplasia, Microphthalmia ORPHA:85284
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Trisomy 13
Microphthalmia, Aplasia/Hypoplasia of the iris, Anophthalmia ORPHA:3378
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610125
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Rodrigues Blindness
Microphthalmia OMIM:268320
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Microphthalmia OMIM:301108
Joubert Syndrome 37
Microphthalmia OMIM:619185
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Monosomy 18P
Microphthalmia ORPHA:1598
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Temtamy Syndrome
Microphthalmia OMIM:218340
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Microphthalmia ORPHA:370959
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia OMIM:618494
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Moebius Syndrome
Microphthalmia OMIM:157900
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Microphthalmia/Coloboma 12
Microphthalmia, Optic nerve aplasia OMIM:120200
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Baraitser-Winter Syndrome 1
Microphthalmia OMIM:243310
Rere-Related Neurodevelopmental Syndrome
Microphthalmia ORPHA:494344
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Gracile Bone Dysplasia
Microphthalmia, Aniridia OMIM:602361
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia ORPHA:2470
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Meckel Syndrome, Type 2
Microphthalmia OMIM:603194
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Microphthalmia OMIM:609053
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Norrie Disease
Buphthalmos, Microphthalmia, Hypoplasia of the iris OMIM:310600
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Garg-Mishra Progeroid Syndrome
Microphthalmia OMIM:620601
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Congenital Fibrinogen Deficiency
Microphthalmia ORPHA:335
Microphthalmia/Coloboma 9
Microphthalmia OMIM:615145
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Trichothiodystrophy 3, Photosensitive
Microphthalmia OMIM:616395
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos ORPHA:369891
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Refsum Disease
Microphthalmia ORPHA:773
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Warburg Micro Syndrome 3
Microphthalmia OMIM:614222
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Meckel Syndrome, Type 4
Microphthalmia OMIM:611134
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Marden-Walker Syndrome
Microphthalmia OMIM:248700
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Joubert Syndrome 14
Microphthalmia OMIM:614424
Persistent Hyperplastic Primary Vitreous
Phthisis bulbi, Microphthalmia, Buphthalmos, Macular hypoplasia ORPHA:91495
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
3Q29 Microduplication Syndrome
Microphthalmia, Aniridia ORPHA:251038
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia OMIM:241410
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia OMIM:616449
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Phthisis bulbi, Microphthalmia, Buphthalmos OMIM:221900
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia ORPHA:3301
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
Ritscher-Schinzel Syndrome 3
Microphthalmia OMIM:619135
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia ORPHA:2505
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Encephalocraniocutaneous Lipomatosis
Microphthalmia, Hypoplasia of the iris OMIM:613001
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia ORPHA:2728
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Martsolf Syndrome 1
Microphthalmia OMIM:212720
Micro Syndrome
Microphthalmia ORPHA:2510
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Warburg Micro Syndrome 2
Microphthalmia OMIM:614225
Adams-Oliver Syndrome
Microphthalmia ORPHA:974
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia OMIM:619148
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Kapur-Toriello Syndrome
Microphthalmia OMIM:244300
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Frontonasal Dysplasia 2
Microphthalmia OMIM:613451
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Microphthalmia, Lenz Type
Microphthalmia ORPHA:568
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Frontorhiny
Microphthalmia ORPHA:391474
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Oculoauricular Syndrome
Microphakia, Phthisis bulbi, Microphthalmia, Macular hypoplasia OMIM:612109
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia OMIM:253800
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Microphthalmia, Optic nerve aplasia, Anophthalmia OMIM:206900
Cohen Syndrome
Microphthalmia ORPHA:193
Joubert Syndrome 2
Microphthalmia OMIM:608091
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia OMIM:614230
Mosaic Trisomy 1
Microphthalmia ORPHA:1692
Phace Association
Optic nerve hypoplasia, Microphthalmia OMIM:606519
Mosaic Trisomy 9
Microphthalmia ORPHA:99776
Duane-Radial Ray Syndrome
Microphthalmia, Optic disc hypoplasia OMIM:607323
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Microphthalmia OMIM:614643
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia ORPHA:464738
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Galloway-Mowat Syndrome 1
Microphthalmia, Hypoplasia of the iris OMIM:251300
Pseudotrisomy 13 Syndrome
Microphthalmia OMIM:264480
Stromme Syndrome
Optic nerve hypoplasia, Microphthalmia OMIM:243605
Fanconi Anemia, Complementation Group N
Microphthalmia OMIM:610832
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia ORPHA:3412
Pierson Syndrome
Microphthalmia, Hypoplasia of the ciliary body, Hypoplasia of the iris, Rieger anomaly, Macular h... OMIM:609049
Fryns Syndrome
Microphthalmia ORPHA:2059
Meckel Syndrome 14
Microphthalmia OMIM:619879
Fanconi Anemia, Complementation Group F
Microphthalmia OMIM:603467
Papillorenal Syndrome
Microphthalmia OMIM:120330
Focal Dermal Hypoplasia
Microphthalmia, Hypoplasia of the iris ORPHA:2092
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic nerve hypoplasia, Microphthalmia, Buphthalmos OMIM:236670
Ohdo Syndrome, X-Linked
Microphthalmia OMIM:300895
Premature Aging Syndrome, Penttinen Type
Microphthalmia OMIM:601812
Isolated Arrhinia
Microphthalmia ORPHA:1134
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
2Q31.1 Microdeletion Syndrome
Microphthalmia ORPHA:251014
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
1Q21.1 Microdeletion Syndrome
Microphthalmia ORPHA:250989
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Fanconi Anemia, Complementation Group E
Microphthalmia OMIM:600901
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Hallermann-Streiff Syndrome
Microphthalmia OMIM:234100
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos ORPHA:2839
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Fanconi Anemia, Complementation Group A
Microphthalmia OMIM:227650
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos OMIM:618874
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Atelis Syndrome 2
Microphthalmia OMIM:620185
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Dubowitz Syndrome
Microphthalmia, Hypoplasia of the iris OMIM:223370
Lymphedema-Distichiasis Syndrome
Microphthalmia OMIM:153400
Cousin Syndrome
Microphthalmia OMIM:260660
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Microphthalmia OMIM:608940
Incontinentia Pigmenti
Microphthalmia ORPHA:464
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Incontinentia Pigmenti
Microphthalmia, Hypoplasia of the fovea OMIM:308300
Trisomy 18
Microphthalmia ORPHA:3380
Holoprosencephaly
Microphthalmia, Anophthalmia ORPHA:2162
Jacobsen Syndrome
Microphthalmia, Macular hypoplasia OMIM:147791
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia OMIM:616300
Cat Eye Syndrome
Microphthalmia OMIM:115470
Mycophenolate Mofetil Embryopathy
Microphthalmia ORPHA:268249
Fanconi Anemia, Complementation Group C
Microphthalmia OMIM:227645
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Pallister-Hall Syndrome
Microphthalmia OMIM:146510
Monosomy 9Q22.3
Microphthalmia ORPHA:77301
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Acro-Renal-Ocular Syndrome
Microphthalmia, Optic disc hypoplasia ORPHA:959
Basal Cell Nevus Syndrome 1
Microphthalmia OMIM:109400
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Microphthalmia ORPHA:508498
Histiocytoid Cardiomyopathy
Microphthalmia, Congenital aphakia ORPHA:137675
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Anophthalmia ORPHA:2538
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Microphthalmia, Syndromic 9
Bilateral microphthalmos, Anophthalmia OMIM:601186
Kenny-Caffey Syndrome, Type 2
Microphthalmia OMIM:127000
Hallermann-Streiff Syndrome
Microphthalmia ORPHA:2108
Steinfeld Syndrome
Microphthalmia OMIM:184705
Fanconi Anemia, Complementation Group L
Microphthalmia OMIM:614083
Fanconi Anemia, Complementation Group D2
Microphthalmia OMIM:227646
Rothmund-Thomson Syndrome, Type 2
Microphthalmia OMIM:268400
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia ORPHA:1052
Cockayne Syndrome B
Microphthalmia, Hypoplasia of the iris OMIM:133540
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia ORPHA:2526
Fraser Syndrome 2
Microphthalmia OMIM:617666
Meckel Syndrome
Microphthalmia, Aplasia/Hypoplasia of the iris, Anophthalmia ORPHA:564
Bartsocas-Papas Syndrome 1
Microphthalmia OMIM:263650
Phace Syndrome
Optic nerve hypoplasia, Microphthalmia, Lens coloboma ORPHA:42775
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microphthalmia OMIM:616975
Treacher-Collins Syndrome
Microphthalmia ORPHA:861
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia ORPHA:2166
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Trichothiodystrophy
Bilateral microphthalmos ORPHA:33364
Aicardi Syndrome
Microphthalmia ORPHA:50
Traboulsi Syndrome
Microphthalmia OMIM:601552
Cockayne Syndrome Type 3
Microphthalmia ORPHA:90324
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia ORPHA:1106
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia OMIM:620005
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Microphthalmia ORPHA:534
Holoprosencephaly 7
Bilateral microphthalmos, Microphthalmia OMIM:610828
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia OMIM:309801
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia OMIM:609945
Fanconi Anemia
Microphthalmia, Aplasia/Hypoplasia of the iris ORPHA:84
Osteoporosis-Pseudoglioma Syndrome
Phthisis bulbi, Microphthalmia OMIM:259770
Aicardi Syndrome
Microphthalmia OMIM:304050
Mend Syndrome
Microphthalmia ORPHA:401973
Monosomy 9P
Microphthalmia ORPHA:261112
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Anophthalmia ORPHA:2556
Myhre Syndrome
Microphthalmia OMIM:139210
Cockayne Syndrome
Microphthalmia ORPHA:191
22Q11.2 Deletion Syndrome
Microphthalmia ORPHA:567
Fryns Syndrome
Microphthalmia OMIM:229850
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic nerve hypoplasia, Bilateral microphthalmos ORPHA:468631
Roberts Syndrome
Microphthalmia ORPHA:3103
Microphthalmia, Syndromic 2
Phthisis bulbi, Microphthalmia, Anophthalmia OMIM:300166
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia ORPHA:3186
Proboscis Lateralis
Optic nerve hypoplasia, Microphthalmia, Anophthalmia ORPHA:141099
Degcags Syndrome
Microphthalmia OMIM:619488
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia OMIM:616734
Holoprosencephaly 9
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610829
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Microphthalmia OMIM:620186
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina OMIM:253280
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia OMIM:608670
Monosomy 13Q14
Microphthalmia ORPHA:1587
Meckel Syndrome, Type 1
Microphthalmia OMIM:249000
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Charge Syndrome
Microphthalmia, Anophthalmia ORPHA:138
Fontaine Progeroid Syndrome
Microphthalmia OMIM:612289
Yunis-Varon Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:3472
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia ORPHA:306542
Focal Dermal Hypoplasia
Microphthalmia, Aniridia, Anophthalmia OMIM:305600
Chromosome 13Q14 Deletion Syndrome
Microphthalmia OMIM:613884
Renpenning Syndrome 1
Microphthalmia OMIM:309500
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia OMIM:612474
Tetraamelia Syndrome 1
Microphthalmia OMIM:273395
Neuroocular Syndrome
Microphthalmia, Hypoplasia of the fovea, Lens coloboma OMIM:619539
Adams-Oliver Syndrome 1
Microphthalmia OMIM:100300
Fraser Syndrome
Microphthalmia, Anophthalmia ORPHA:2052
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos ORPHA:93325
Neu-Laxova Syndrome 1
Microphthalmia OMIM:256520
Witteveen-Kolk Syndrome
Microphthalmia OMIM:613406
Charge Syndrome
Microphthalmia, Unilateral microphthalmos, Anophthalmia OMIM:214800
Lowe Oculocerebrorenal Syndrome
Microphthalmia OMIM:309000
Norrie Disease
Microphthalmia, Hypoplasia of the iris, Aplasia/Hypoplasia of the lens ORPHA:649
Fraser Syndrome 1
Bilateral microphthalmos, Anophthalmia OMIM:219000
Holoprosencephaly 1
Microphthalmia OMIM:236100
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia OMIM:607932
Pallister-Hall Syndrome
Microphthalmia ORPHA:672
8Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Bilateral microphthalmos ORPHA:508488
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microphthalmia, Hypoplasia of the iris OMIM:175780
Hydrolethalus Syndrome 1
Microphthalmia OMIM:236680
Branchiooculofacial Syndrome
Microphthalmia, Anophthalmia OMIM:113620
Mowat-Wilson Syndrome
Microphthalmia OMIM:235730
Holoprosencephaly 2
Microphthalmia OMIM:157170
Townes-Brocks Syndrome
Microphthalmia ORPHA:857
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
Craniofacial Microsomia 1
Microphthalmia, Anophthalmia OMIM:164210
Microphthalmia, Syndromic 1
Microphthalmia, Anophthalmia OMIM:309800

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 Vwc2l

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 Vwc2l.

No publications found that use IMPC mice or data for Vwc2l.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Vwc2lem1(IMPC)Mbp Intra-exon deletion Mice, Tissue
Vwc2ltm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Vwc2ltm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Vwc2ltm45015(L1L2_st0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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