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Gene: Vwa5a MGI:1915026

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Gene Summary

Name:
von Willebrand factor A domain containing 5A
Synonyms:
Loh11cr2a,  BCSC-1,  5830475I06Rik

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
corneal opacity Vwa5aem1(IMPC)J HOM Late adult 5.16×10-06
abnormal startle reflex Vwa5aem1(IMPC)J HOM   Late adult 4.99×10-05
abnormal vibrissa morphology Vwa5aem1(IMPC)J HOM Late adult 8.84×10-08

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.

Eye Morphology

Images Slit Lamp

1 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Combined SHIRPA and Dysmorphology

Images

2 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Vwa5a 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 Vwa5a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Dermoids Of Cornea
Corneal opacity OMIM:304730
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Thiel-Behnke Corneal Dystrophy
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... ORPHA:98960
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy OMIM:121820
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Morquio Syndrome C
Corneal opacity OMIM:252300
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Macular Dystrophy, Corneal
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy OMIM:217800
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... OMIM:610202
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Alopecia, Aplasia/Hypoplasia of the iris, Corneal opacity, Hypopigmentation of hair, Pe... ORPHA:1067
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... OMIM:180550
Cornea Plana 2, Autosomal Recessive
Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Galactosialidosis
Corneal opacity ORPHA:351
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity OMIM:608470
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Winchester Syndrome
Corneal opacity, Hirsutism OMIM:277950
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Granular Corneal Dystrophy Type Ii
Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... ORPHA:98963
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Limbal Stem Cell Deficiency
Blepharospasm, Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal s... ORPHA:171673
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... ORPHA:293603
Granular Corneal Dystrophy Type I
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... ORPHA:98962
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Macular Corneal Dystrophy
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... ORPHA:98969
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... ORPHA:98974
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Gómez-López-Hernández Syndrome
Alopecia of scalp, Corneal opacity ORPHA:1532
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Posterior embryotoxon, Iris coloboma, Corneal opacity ORPHA:1473
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... ORPHA:293381
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal... OMIM:613270
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Mucolipidosis Iv
Dystonia, Opacification of the corneal stroma, Corneal opacity OMIM:252650
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal degeneration, Corneal dystrophy OMIM:610158
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Brittle Cornea Syndrome 2
Keratoconus, Corneal perforation, Megalocornea, Keratoglobus, Sclerocornea, Flat cornea, Decrease... OMIM:614170
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal guttata, Corneal dystrophy OMIM:615523
Erythrokeratodermia Variabilis
Cataract, Alopecia, Abnormal hair morphology, Generalized hirsutism, Corneal opacity ORPHA:317
Gelatinous Drop-Like Corneal Dystrophy
Blepharospasm, Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacit... ORPHA:98957
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyebrow, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Pili torti, Corn... OMIM:602400
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Atopic Keratoconjunctivitis
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Loss of eyelash... ORPHA:163934
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract OMIM:116200
Neurotrophic Keratopathy
Corneal perforation, Corneal scarring, Astigmatism, Recurrent corneal erosions, Corneal stromal e... ORPHA:137596
Brachyolmia Type 1, Hobaek Type
Opacification of the corneal stroma, Corneal opacity OMIM:271530
Hereditary Bullous Dystrophy, Macular Type
Cataract, Alopecia, Atrichia, Nail dystrophy, Corneal opacity, Congenital abnormal hair pattern ORPHA:1867
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Developmental cataract, Corneal opacity OMIM:618815
Hyperekplexia 2
Astigmatism, Exaggerated startle response OMIM:614619
Harel-Yoon Syndrome
Dystonia, Developmental cataract, Corneal opacity OMIM:617183
Sialidosis Type 2
Tremor, Corneal opacity ORPHA:87876
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... OMIM:310600
Olmsted Syndrome 1
Alopecia universalis, Opacification of the corneal stroma, Nail dystrophy, Corneal opacity, Spars... OMIM:614594
Rodrigues Blindness
Sclerocornea, Microcornea, Sparse hair, Fine hair OMIM:268320
Congenital Primary Aphakia
Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm... ORPHA:83461
Hurler-Scheie Syndrome
Generalized hirsutism, Corneal opacity ORPHA:93476
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Myopic astigmatism, Astigmatism, Corneal opacity OMIM:152950
Sjogren-Larsson Syndrome
Abnormal hair morphology, Astigmatism, Opacification of the corneal epithelium OMIM:270200
Short Syndrome
Alopecia, Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Posterior embryotoxon,... ORPHA:3163
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Low anterior hairline OMIM:613153
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Microcornea, Fine hair, Keratoconjunctivitis sicca, Sclerocornea, Sparse hair, Corneal ... ORPHA:1806
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Thick eyebrow, Corneal opacity, Conjunctivitis, Synophrys OMIM:602562
Bartsocas-Papas Syndrome 2
Axillary pterygium, Popliteal pterygium, Antecubital pterygium, Corneal opacity OMIM:619339
Congenital Rubella Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:290
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Fish-Eye Disease
Corneal opacity ORPHA:79292
Dermochondrocorneal Dystrophy
Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities OMIM:221800
Alpha-Mannosidosis
Cataract, Corneal opacity ORPHA:61
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Sialidosis Type 1
Cataract, Tremor, Corneal opacity ORPHA:812
Oculomaxillofacial Dysostosis
Abnormal eyelash morphology, Sparse or absent eyelashes, Corneal opacity, Aplasia/Hypoplasia of t... ORPHA:1794
Mietens Syndrome
Sclerocornea, Cataract, Microcornea, Corneal opacity ORPHA:2557
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal scarring, Nail dystrophy, Recurrent corneal erosions, Opacification of the cor... OMIM:256800
Bartsocas-Papas Syndrome
Popliteal pterygium, Alopecia totalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelas... ORPHA:1234
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Tyrosinemia Type 2
Tremor, Corneal opacity ORPHA:28378
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Microphthalmia/Coloboma 9
Sclerocornea, Microcornea, Iris coloboma, Ocular anterior segment dysgenesis OMIM:615145
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity ORPHA:281090
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Gm1-Gangliosidosis, Type Iii
Dystonia, Opacification of the corneal stroma OMIM:230650
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity ORPHA:496790
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal... ORPHA:91495
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Highly arched eyebrow, Corneal opacity OMIM:620469
Multiple Sulfatase Deficiency
Cataract, Coarse hair, Thick eyebrow, Corneal opacity ORPHA:585
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Sparse eyebrow, Conjunctival hyperemia, Corneal opacity, Abnormal eyelash morphology, W... ORPHA:2399
Microphthalmia With Brain And Digit Anomalies
Sclerocornea, Cataract, Microcornea, Iris coloboma ORPHA:139471
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re... OMIM:608643
Ocular Cystinosis
Corneal crystals ORPHA:411641
Lowry-Maclean Syndrome
Megalocornea, Corneal opacity, Developmental glaucoma, Generalized hypertrichosis ORPHA:2409
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Gm1 Gangliosidosis
Generalized dystonia, Tremor, Hirsutism, Generalized hirsutism, Corneal opacity, Dystonia ORPHA:354
Juvenile Sialidosis Type 2
Cataract, Corneal opacity, Generalized hypertrichosis ORPHA:93399
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cataract, Tremor, Exaggerated startle response OMIM:620327
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Ocular albinism, Corneal opacity, Hypopigmentation of hair, Athe... ORPHA:2719
Congenital Sialidosis Type 2
Cataract, Corneal opacity, Developmental cataract, Generalized hypertrichosis ORPHA:93400
Lcat Deficiency
Corneal opacity ORPHA:650
Distal Deletion 6P
Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior chamber morpho... ORPHA:96125
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Astigmatism, Corneal opacity, Hirsutism OMIM:301056
Gorlin-Chaudhry-Moss Syndrome
Coarse hair, Astigmatism, Low anterior hairline, Generalized hirsutism, Sclerocornea ORPHA:2095
Oculocerebrocutaneous Syndrome
Alopecia, Iris coloboma, Corneal opacity ORPHA:1647
Aniridia 1
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... OMIM:106210
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Posterior embryoto... OMIM:612109
Zellweger Syndrome
Cataract, Posterior embryotoxon, Brushfield spots, Corneal opacity ORPHA:912
Alpha-Mannosidosis, Adult Form
Cataract, Corneal opacity ORPHA:309288
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Al-Gazali Syndrome
Sclerocornea, Corneal opacity OMIM:609465
Walker-Warburg Syndrome
Cataract, Microcornea, Iris coloboma, Corneal opacity ORPHA:899
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Microphthalmia/Coloboma 12
Peters anomaly, Corneal opacity OMIM:120200
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
High anterior hairline, Dry hair, Coarse hair, Nail dystrophy, Woolly scalp hair, Corneal opacity... OMIM:620519
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Sclerocornea, Corneal opacity ORPHA:284160
Hurler-Scheie Syndrome
Corneal opacity, Hirsutism OMIM:607015
Scheie Syndrome
Corneal opacity ORPHA:93474
Autoimmune Polyendocrinopathy Type 1
Cataract, Alopecia, Opacification of the corneal stroma ORPHA:3453
Wagro Syndrome
Cataract, Aniridia, Corneal opacity OMIM:612469
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Cutis Laxa, Autosomal Dominant 3
Developmental cataract, Corneal opacity OMIM:616603
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Cystinosis
Corneal opacity ORPHA:213
Chromosome 6Pter-P24 Deletion Syndrome
Peters anomaly, Frontal upsweep of hair, Axenfeld anomaly, Posterior embryotoxon, Ocular anterior... OMIM:612582
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Scheie Syndrome
Corneal opacity OMIM:607016
Mucoepithelial Dysplasia, Hereditary
Cataract, Alopecia, Coarse hair, Opacification of the corneal stroma, Nail dystrophy, Corneal neo... OMIM:158310
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Schimmelpenning-Feuerstein-Mims Syndrome
Alopecia, Corneal opacity OMIM:163200
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Microcornea, Ectopia pupillae, Long eyelashes, Sclerocornea OMIM:615877
Familial Dysautonomia
Heterochromia iridis, Abnormal pupil morphology, Corneal erosion, Corneal opacity ORPHA:1764
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Mucopolysaccharidosis, Type Ivb
Opacification of the corneal stroma, Corneal opacity OMIM:253010
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Tangier Disease
Opacification of the corneal stroma, Nail dystrophy OMIM:205400
3Q29 Microduplication Syndrome
Sclerocornea, Cataract, Aniridia, Iris coloboma ORPHA:251038
Mucolipidosis Type Iii Alpha/Beta
Corneal opacity ORPHA:423461
De Barsy Syndrome
Cataract, Sparse hair, Athetosis, Corneal opacity ORPHA:2962
Hurler Syndrome
Opacification of the corneal stroma, Corneal opacity, Hirsutism OMIM:607014
Sanjad-Sakati Syndrome
Astigmatism, Corneal opacity ORPHA:2323
Pseudo-Torch Syndrome 1
Cataract, Dystonia, Opacification of the corneal stroma OMIM:251290
Incontinentia Pigmenti
Cataract, Alopecia, Keratitis, Dystrophic toenail, Supernumerary nipple, Abnormal hair morphology... ORPHA:464
Farber Disease
Opacification of the corneal stroma, Abnormal conjunctiva morphology, Corneal opacity ORPHA:333
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma OMIM:169550
Schimke Immuno-Osseous Dysplasia
Corneal opacity ORPHA:1830
Fucosidosis
Corneal opacity ORPHA:349
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Mucopolysaccharidosis, Type Vii
Coarse hair, Corneal opacity, Thick eyebrow, Hirsutism OMIM:253220
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Encephalocraniocutaneous Lipomatosis
Sclerocornea, Alopecia, Limbal dermoid, Hypoplasia of the iris OMIM:613001
Gomez-Lopez-Hernandez Syndrome
Alopecia, Opacification of the corneal stroma OMIM:601853
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Axenfeld-Rieger Syndrome, Type 2
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae OMIM:601499
Mucopolysaccharidosis Type 7
Corneal opacity ORPHA:584
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma OMIM:215250
Multiple Sulfatase Deficiency
Corneal opacity OMIM:272200
Stromme Syndrome
Cataract, Microcornea, Peters anomaly, Sclerocornea, Iris coloboma OMIM:243605
Focal Dermal Hypoplasia
Alopecia, Ectopia lentis, Hypoplasia of the iris, Corneal opacity, Iris coloboma ORPHA:2092
Mucopolysaccharidosis Type 3
Cataract, Coarse hair, Hirsutism, Generalized hirsutism, Thick hair, Corneal opacity, Opacificati... ORPHA:581
Multicentric Osteolysis, Nodulosis, And Arthropathy
Corneal opacity, Peripheral opacification of the cornea, Hirsutism OMIM:259600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Peters anomaly, Megalocornea, Corneal opacity, Buphthalmos OMIM:236670
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Iris coloboma ORPHA:77298
Mucopolysaccharidosis Type 1
Generalized hirsutism, Corneal opacity, Low anterior hairline ORPHA:579
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Corneal opacity, Ectopia pupillae ORPHA:85167
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microcornea, Hypoplasia of the iris, Ectopia pupillae, Limb dystonia, Astigmatism, Corneal neovas... OMIM:175780
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Sparse hair, Corneal opacity OMIM:601812
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma OMIM:256540
Ablepharon Macrostomia Syndrome
Fine hair, Breast hypoplasia, Absent eyelashes, Abnormal hair pattern, Absent eyebrow, Corneal op... ORPHA:920
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Tbck-Related Intellectual Disability Syndrome
Hirsutism, Thick eyebrow, Corneal opacity, Synophrys ORPHA:488632
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Sparse eyebrow, Long eyelashes, Low anterior hairline, Hirsutism, Broad eyebrow, Keratoconjunctiv... ORPHA:495875
Glycine Encephalopathy With Normal Serum Glycine
Long eyelashes, Exaggerated startle response OMIM:617301
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Corneal crystals OMIM:210370
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Lens subluxation, Corneal opacity, Ectopia pupillae OMIM:608940
Developmental And Epileptic Encephalopathy 49
Long eyelashes, Thick eyebrow, Exaggerated startle response OMIM:617281
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Cataract, Exaggerated startle response OMIM:253800
Hurler Syndrome
Generalized hirsutism, Thick eyebrow, Corneal opacity ORPHA:93473
3Mc Syndrome 3
Highly arched eyebrow, Corneal opacity OMIM:248340
Congenital Disorder Of Deglycosylation 1
Athetosis, Corneal ulceration, Action tremor, Corneal opacity OMIM:615273
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response, Hirsutism ORPHA:521426
Wilson Disease
Kayser-Fleischer ring ORPHA:905
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma ORPHA:425
Spondyloepiphyseal Dysplasia, Maroteaux Type
Opacification of the corneal stroma OMIM:184095
Mosaic Trisomy 9
Corneal opacity ORPHA:99776
Tay-Sachs Disease
Tremor, Dystonia, Exaggerated startle response, Laryngeal dystonia ORPHA:845
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Thin eyebrow, Corneal opacity, Synophrys ORPHA:364577
Spondylodysplastic Ehlers-Danlos Syndrome
Posterior subcapsular cataract, Megalocornea, Corneal opacity, Iris coloboma, Sparse scalp hair ORPHA:536471
Alpha-Mannosidosis, Infantile Form
Astigmatism, Highly arched eyebrow, Corneal opacity, Cataract ORPHA:309282
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Nail dystrophy, Corneal opacity ORPHA:79396
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Fryns Syndrome
Corneal opacity ORPHA:2059
Moebius Syndrome
Breast aplasia, Corneal opacity ORPHA:570
Schimke Immunoosseous Dysplasia
Coarse hair, Astigmatism, Fine hair, Opacification of the corneal stroma OMIM:242900
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Brushfield spots, Opacification of the corneal stroma OMIM:214110
Encephalocraniocutaneous Lipomatosis
Abnormal eyelash morphology, Alopecia, Iris coloboma, Corneal opacity ORPHA:2396
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Hirsutism ORPHA:79255
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Hirsutism OMIM:617527
Sandhoff Disease
Exaggerated startle response OMIM:268800
Dyrk1A-Related Intellectual Disability Syndrome
Breast hypoplasia, Astigmatism, Corneal opacity ORPHA:464306
Fabry Disease
Cataract, Conjunctival telangiectasia, Corneal opacity, Cornea verticillata, Corneal dystrophy ORPHA:324
Chromosome 8Q21.11 Deletion Syndrome
Sclerocornea, Cataract OMIM:614230
Mucopolysaccharidosis, Type Vi
Corneal opacity, Hirsutism OMIM:253200
Histiocytoid Cardiomyopathy
Congenital aphakia, Corneal opacity, Megalocornea ORPHA:137675
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Astigmatism, Corneal opacity ORPHA:464311
Tangier Disease
Nail dystrophy, Corneal opacity ORPHA:31150
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response OMIM:615574
Carpenter Syndrome 1
Microcornea, Opacification of the corneal stroma OMIM:201000
Combined Oxidative Phosphorylation Deficiency 58
Exaggerated startle response OMIM:620451
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Cataract, Fine hair, Abnormal pupil morphology, Corneal opacity, Buphthalmos, Sparse... ORPHA:534
Chime Syndrome
Sparse hair, Fine hair, Corneal opacity ORPHA:3474
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Mosaic Variegated Aneuploidy Syndrome
Cataract, Corneal opacity ORPHA:1052
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Alopecia, Keratitis, Abnormal hair morphology, Thin eyebrow, Astigmatism, Absent eyebrow, Corneal... ORPHA:2273
Larsen Syndrome
Short nail, Corneal opacity OMIM:150250
Mucolipidosis Iii Gamma
Opacification of the corneal stroma OMIM:252605
Multiple Mitochondrial Dysfunctions Syndrome 7
Dystonia, Exaggerated startle response OMIM:620423
Microphthalmia With Linear Skin Defects Syndrome
Sclerocornea, Abnormal eyelash morphology, Posterior embryotoxon, Corneal opacity ORPHA:2556
Linear Skin Defects With Multiple Congenital Anomalies 1
Sclerocornea, Cataract, Iris coloboma, Peters anomaly OMIM:309801
Galloway-Mowat Syndrome 1
Cataract, Dystonia, Opacification of the corneal stroma, Hypoplasia of the iris OMIM:251300
Mucolipidosis Iii Alpha/Beta
Opacification of the corneal stroma, Hyperopic astigmatism OMIM:252600
Oculoectodermal Syndrome
Microcornea, Supernumerary nipple, Astigmatism, Opacification of the corneal stroma, Limbal dermoid OMIM:600268
Proboscis Lateralis
Cataract, Microcornea, Abnormal eyebrow morphology, Abnormal location of the eyebrow, Corneal opa... ORPHA:141099
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cataract, Athetosis, Opacification of the corneal stroma, Hypoplastic nipples, Brushfield spots OMIM:614866
Norrie Disease
Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Aplasia/Hypoplasia o... ORPHA:649
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea OMIM:300952
Wilson Disease
Sunflower cataract, Hand tremor, Kayser-Fleischer ring, Limb dystonia, Tremor, Dystonia OMIM:277900
Thrombocytopenia-Absent Radius Syndrome
Cataract, Corneal opacity OMIM:274000
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma ORPHA:583
Cockayne Syndrome B
Microcornea, Dry hair, Hypoplasia of the iris, Abnormal hair morphology, Opacification of the cor... OMIM:133540
Neurocardiofaciodigital Syndrome
Sclerocornea, Cataract, Sparse eyebrow, Sparse hair OMIM:619869
Lathosterolosis
Cataract, Microcornea, Opacification of the corneal stroma ORPHA:46059
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma OMIM:253000
Phace Syndrome
Cataract, Heterochromia iridis, Sclerocornea, Lens coloboma, Iris coloboma ORPHA:42775
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cataract, Brushfield spots, Opacification of the corneal stroma OMIM:214100
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Thin eyebrow, Corneal opacity, Synophrys OMIM:608670
Wolf-Hirschhorn Syndrome
Highly arched eyebrow, High anterior hairline, Megalocornea, Low posterior hairline, Sclerocornea... ORPHA:280
Neurofibromatosis Type 1
Cataract, Heterochromia iridis, Lisch nodules, Abnormal hair quantity, Corneal opacity ORPHA:636
Hereditary Acrokeratotic Poikiloderma
Dystrophic toenail, Nail dystrophy, Dystrophic fingernails, Keratoconjunctivitis, Opacification o... ORPHA:2907
Bartsocas-Papas Syndrome 1
Axillary pterygium, Alopecia, Popliteal pterygium, Pterygium, Alopecia totalis, Absent eyelashes,... OMIM:263650
Peters Plus Syndrome
Cataract, Microcornea, Peters anomaly, Corneal opacity, Iris coloboma, Anterior chamber synechiae ORPHA:709
Williams Syndrome
Cataract, Megalocornea, Aplasia/Hypoplasia of the iris, Tremor, Posterior embryotoxon, Blue iride... ORPHA:904
Smith-Lemli-Opitz Syndrome
Cataract, Sclerocornea, Abnormal eyelash morphology, Hypopigmentation of hair, Iris coloboma ORPHA:818
Hutchinson-Gilford Progeria Syndrome
Dystrophic toenail, Alopecia totalis, Loss of eyelashes, Dystrophic fingernails, Patchy alopecia,... ORPHA:740
Kindler Epidermolysis Bullosa
Conjunctivitis, Corneal opacity ORPHA:2908
Wiedemann-Rautenstrauch Syndrome
Cataract, Action tremor, Tremor, Hirsutism, Corneal opacity, Sparse hair, Sparse scalp hair, Syno... ORPHA:3455
Van Den Ende-Gupta Syndrome
Sclerocornea, Abnormal eyebrow morphology OMIM:600920
Mucolipidosis Ii Alpha/Beta
Sparse eyebrow, Megalocornea, Opacification of the corneal stroma, Brittle hair, Sparse hair OMIM:252500
Xeroderma Pigmentosum
Cataract, Alopecia, Keratitis, Pterygium, Conjunctival telangiectasia, Opacification of the corne... ORPHA:910
Gaucher Disease
Tremor, Corneal opacity ORPHA:355
Meckel Syndrome
Sclerocornea, Cataract, Microcornea, Aplasia/Hypoplasia of the iris ORPHA:564
Limb Body Wall Complex
Lens subluxation, Iris coloboma, Corneal opacity ORPHA:2369
Mucopolysaccharidosis Type 2, Severe Form
Corneal opacity ORPHA:217085
Mucopolysaccharidosis Type 2
Corneal opacity ORPHA:580
Mosaic Trisomy 1
Opacification of the corneal stroma ORPHA:1692
Mucopolysaccharidosis Type 2, Attenuated Form
Corneal opacity ORPHA:217093
Microphthalmia, Syndromic 3
Sclerocornea, Cataract OMIM:206900
Stuve-Wiedemann Syndrome 1
Sparse hair, Opacification of the corneal stroma OMIM:601559
Fraser Syndrome 1
Absent eyelashes, Extension of hair growth on temples to lateral eyebrow, Absent eyebrow, Corneal... OMIM:219000
Osteogenesis Imperfecta
Corneal opacity ORPHA:666
Cockayne Syndrome A
Cataract, Dry hair, Opacification of the corneal stroma, Tremor, Sparse hair OMIM:216400
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Thick eyebrow, Exaggerated startle response OMIM:618367
Autosomal Dominant Cutis Laxa
Developmental cataract, Corneal opacity ORPHA:90348
Gaucher Disease, Type Iiic
Opacification of the corneal stroma OMIM:231005
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Corneal opacity ORPHA:2072
Yunis-Varon Syndrome
Cataract, Sparse eyebrow, Sparse eyelashes, Sclerocornea, Sparse scalp hair ORPHA:3472
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma ORPHA:79280
Roberts-Sc Phocomelia Syndrome
Cataract, Sparse hair, Opacification of the corneal stroma, Corneal opacity OMIM:268300
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, High anterior hairline, Exaggerated startle response ORPHA:438213
Fryns Syndrome
Facial hirsutism, Opacification of the corneal stroma OMIM:229850
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Alopecia, Atrichia, Keratitis, Nail dystrophy, Corneal neovascularization, Absent eyelashes, Dyst... OMIM:308205
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Opacification of the corneal stroma, Buphthalmos, Megalocornea OMIM:253280
Digeorge Syndrome
Sclerocornea, Posterior embryotoxon OMIM:188400
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522
Microphthalmia, Syndromic 6
Sclerocornea, Microcornea OMIM:607932
Yunis-Varon Syndrome
Cataract, Sparse eyebrow, Absent nipple, Sparse eyelashes, Hypoplastic nipples, Sclerocornea, Spa... OMIM:216340
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Opacification of the corneal stroma OMIM:615287

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 Vwa5a

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 Vwa5a.

No publications found that use IMPC mice or data for Vwa5a.

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
Vwa5atm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Vwa5atm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Vwa5aem1(IMPC)J Exon Deletion Mice

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