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Gene: Shroom4 MGI:2685570

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Gene Summary

Name:
shroom family member 4
Synonyms:
Shrm4,  D430043L16Rik

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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 Shroom4tm1.1(NCOM)Mfgc HEM Early adult 5.01×10-08

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Viewing: all phenotypes

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 Skull Lateral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

32 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Histopathology

Images

5 Images

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Eye Morphology

Images Ophthalmoscopy

5 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Shroom4 mutations

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

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

The table below shows human diseases associated to Shroom4 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract ORPHA:85288

The table below shows human diseases predicted to be associated to Shroom4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Dermoids Of Cornea
Corneal opacity OMIM:304730
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Corneal dystrophy, lisch epithelial
Corneal dystrophy OMIM:300778
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Corneal dystrophy, Map-dot-fingerprint corneal dystrophy OMIM:121820
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Morquio Syndrome C
Corneal opacity OMIM:252300
Thiel-Behnke Corneal Dystrophy
Recurrent corneal erosions, Astigmatism, Subepithelial corneal opacities, Central corneal dystrop... ORPHA:98960
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Lattice Corneal Dystrophy Type I
Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification... ORPHA:98964
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnormal con... OMIM:180550
Cataract 21, Multiple Types
Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, Cerulean cataract, I... OMIM:610202
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... OMIM:617319
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat cornea OMIM:217300
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Corneal stromal edema, Corneal dystrophy, Descemet Membrane Folds, Corneal ... OMIM:136800
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Anterior Segment Dysgenesis 6
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... OMIM:617315
Galactosialidosis
Corneal opacity ORPHA:351
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal opacity, Corneal erosion OMIM:608470
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Granular Corneal Dystrophy Type Ii
Recurrent corneal erosions, Granular corneal dystrophy, Central opacification of the cornea, Sube... ORPHA:98963
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Corneal Dystrophy, Posterior Polymorphous, 1
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... OMIM:122000
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Increased corneal ... ORPHA:293603
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Macular Corneal Dystrophy
Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy... ORPHA:98969
Granular Corneal Dystrophy Type I
Recurrent corneal erosions, Abnormal corneal epithelium morphology, Central opacification of the ... ORPHA:98962
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c... OMIM:107250
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal dystrophy, Corneal scarring OMIM:602082
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal dystrophy, Corneal guttata OMIM:610158
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal stromal edema, Corneal dystrophy, Corneal guttata, Abnormal Descemet membrane morphology,... OMIM:613270
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Corneal... ORPHA:171673
Winchester Syndrome
Corneal opacity OMIM:277950
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Fuchs Endothelial Corneal Dystrophy
Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Reduced number of... ORPHA:98974
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Anterior Segment Dysgenesis 5
Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Developmental catarac... OMIM:604229
Epithelial Recurrent Erosion Dystrophy
Recurrent corneal erosions, Corneal dystrophy, Subepithelial corneal opacities, Corneal scarring,... ORPHA:293381
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Posterior embryotoxon, Corneal opacity, Iris coloboma ORPHA:1473
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal dystrophy, Corneal guttata OMIM:613268
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... ORPHA:2334
Cataract 1, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Microcornea, Pulverulent cataract OMIM:116200
Posterior Polymorphous Corneal Dystrophy
Astigmatism, Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Incre... ORPHA:98973
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Brittle Cornea Syndrome 2
Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Sclerocornea, Flat cornea, ... OMIM:614170
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity OMIM:252650
Brachyolmia Type 1, Hobaek Type
Opacification of the corneal stroma, Corneal opacity OMIM:271530
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Developmental cataract, Corneal opacity OMIM:618815
Gelatinous Drop-Like Corneal Dystrophy
Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacities, Central op... ORPHA:98957
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Corneal dystrophy, Ectopia pupillae, Corneal guttata OMIM:609141
Atopic Keratoconjunctivitis
Corneal neovascularization, Corneal opacity, Corneal scarring, Chemosis, Conjunctival hyperemia, ... ORPHA:163934
Corneal Dystrophy, Posterior Amorphous
Corneal dystrophy, Ectopia pupillae, Iris coloboma OMIM:612868
Norrie Disease
Buphthalmos, Corneal opacity, Hypoplasia of the iris, Shallow anterior chamber, Leukocoria, Catar... OMIM:310600
Congenital Primary Aphakia
Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, C... ORPHA:83461
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Astigmatism, Myopic astigmatism, Microcornea, Corneal opacity, Cataract OMIM:152950
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Leukocoria... OMIM:221900
Dermochondrocorneal Dystrophy
Corneal dystrophy, Subepithelial corneal opacities, Anterior cortical cataract OMIM:221800
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Harel-Yoon Syndrome
Developmental cataract, Corneal opacity OMIM:617183
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Antecubital pterygium, Corneal opacity OMIM:619339
Fish-Eye Disease
Corneal opacity ORPHA:79292
Sialidosis Type 2
Corneal opacity ORPHA:87876
Congenital Rubella Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:290
Neurotrophic Keratopathy
Recurrent corneal erosions, Astigmatism, Corneal ulceration, Corneal stromal edema, Corneal scarr... ORPHA:137596
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Ocular Cystinosis
Corneal crystals ORPHA:411641
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity OMIM:613153
Short Syndrome
Abnormal anterior chamber morphology, Corneal opacity, Megalocornea, Hypoplasia of the iris, Post... ORPHA:3163
Mietens Syndrome
Cataract, Microcornea, Sclerocornea, Corneal opacity ORPHA:2557
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Alpha-Mannosidosis
Cataract, Corneal opacity ORPHA:61
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Astigmatism OMIM:270200
Hurler-Scheie Syndrome
Corneal opacity ORPHA:93476
Microphthalmia/Coloboma 9
Ocular anterior segment dysgenesis, Sclerocornea, Microcornea, Iris coloboma OMIM:615145
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Developmental glaucoma, Corneal opacity, Aniridia ORPHA:1064
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Corneal opacity, Conjunctivitis OMIM:602562
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity ORPHA:281090
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Ectodermal Dysplasia-Blindness Syndrome
Corneal dystrophy, Microcornea, Sclerocornea, Cataract, Keratoconjunctivitis sicca ORPHA:1806
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Persistent Hyperplastic Primary Vitreous
Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Developmen... ORPHA:91495
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity ORPHA:496790
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Sclerocornea, Iris coloboma ORPHA:139471
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Sialidosis Type 1
Cataract, Corneal opacity ORPHA:812
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Lcat Deficiency
Corneal opacity ORPHA:650
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Aniridia 1
Corneal neovascularization, Aniridia, Corneal erosion, Hypoplasia of the iris, Anterior subcapsul... OMIM:106210
Distal Deletion 6P
Abnormal anterior chamber morphology, Corneal opacity, Hypoplasia of the iris, Posterior embryoto... ORPHA:96125
Insensitivity To Pain, Congenital, With Anhidrosis
Recurrent corneal erosions, Corneal ulceration, Corneal scarring, Keratitis, Opacification of the... OMIM:256800
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Corneal opacity OMIM:620469
Al-Gazali Syndrome
Sclerocornea, Corneal opacity OMIM:609465
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Microcornea, Posterior embryotoxon, D... OMIM:612109
Microphthalmia/Coloboma 12
Peters anomaly, Corneal opacity OMIM:120200
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Alpha-Mannosidosis, Adult Form
Cataract, Corneal opacity ORPHA:309288
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Zellweger Syndrome
Cataract, Posterior embryotoxon, Corneal opacity, Brushfield spots ORPHA:912
Lowry-Maclean Syndrome
Developmental glaucoma, Corneal opacity, Megalocornea ORPHA:2409
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Walker-Warburg Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma ORPHA:899
8Q21.11 Microdeletion Syndrome
Cataract, Iris hypopigmentation, Sclerocornea, Corneal opacity ORPHA:284160
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Astigmatism, Corneal opacity OMIM:301056
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Congenital Sialidosis Type 2
Cataract, Developmental cataract, Corneal opacity ORPHA:93400
Juvenile Sialidosis Type 2
Cataract, Corneal opacity ORPHA:93399
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Scheie Syndrome
Corneal opacity ORPHA:93474
Wagro Syndrome
Cataract, Corneal opacity, Aniridia OMIM:612469
Oculocerebrocutaneous Syndrome
Corneal opacity, Iris coloboma ORPHA:1647
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Conjunctival hyperemia, Corneal opacity ORPHA:2399
Cutis Laxa, Autosomal Dominant 3
Developmental cataract, Corneal opacity OMIM:616603
Multiple Sulfatase Deficiency
Cataract, Corneal opacity ORPHA:585
Scheie Syndrome
Corneal opacity OMIM:607016
Cystinosis
Corneal opacity ORPHA:213
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Familial Dysautonomia
Abnormal pupil morphology, Heterochromia iridis, Corneal opacity, Corneal erosion ORPHA:1764
Mucopolysaccharidosis, Type Ivb
Opacification of the corneal stroma, Corneal opacity OMIM:253010
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Aniridia, Iris coloboma ORPHA:251038
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma OMIM:169550
Chromosome 6Pter-P24 Deletion Syndrome
Ocular anterior segment dysgenesis, Axenfeld anomaly, Posterior embryotoxon, Opacification of the... OMIM:612582
Mucolipidosis Type Iii Alpha/Beta
Corneal opacity ORPHA:423461
Sanjad-Sakati Syndrome
Astigmatism, Corneal opacity ORPHA:2323
Hurler-Scheie Syndrome
Corneal opacity OMIM:607015
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cataract, Iris hypopigmentation, Corneal opacity, Ocular albinism ORPHA:2719
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma OMIM:215250
Gm1 Gangliosidosis
Corneal opacity ORPHA:354
Farber Disease
Opacification of the corneal stroma, Corneal opacity, Abnormal conjunctiva morphology ORPHA:333
Fucosidosis
Corneal opacity ORPHA:349
Axenfeld-Rieger Syndrome, Type 2
Opacification of the corneal stroma, Microcornea, Anterior chamber synechiae OMIM:601499
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Microcornea, Sclerocornea, Ectopia pupillae OMIM:615877
Schimke Immuno-Osseous Dysplasia
Corneal opacity ORPHA:1830
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma OMIM:256540
Mucopolysaccharidosis Type 7
Corneal opacity ORPHA:584
Stromme Syndrome
Microcornea, Sclerocornea, Cataract, Peters anomaly, Iris coloboma OMIM:243605
Multiple Sulfatase Deficiency
Corneal opacity OMIM:272200
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Corneal crystals OMIM:210370
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Gorlin-Chaudhry-Moss Syndrome
Astigmatism, Sclerocornea ORPHA:2095
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Iris coloboma ORPHA:77298
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity OMIM:163200
Hurler Syndrome
Opacification of the corneal stroma, Corneal opacity OMIM:607014
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Corneal opacity, Megalocornea, Cataract, Buphthalmos, Peters anomaly OMIM:236670
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Corneal opacity, Ectopia pupillae ORPHA:85167
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma ORPHA:425
Focal Dermal Hypoplasia
Ectopia lentis, Iris coloboma, Corneal opacity, Hypoplasia of the iris ORPHA:2092
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Lens subluxation, Corneal opacity, Ectopia pupillae OMIM:608940
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma OMIM:601853
Spondyloepiphyseal Dysplasia, Maroteaux Type
Opacification of the corneal stroma OMIM:184095
Encephalocraniocutaneous Lipomatosis
Limbal dermoid, Sclerocornea, Hypoplasia of the iris OMIM:613001
Tangier Disease
Opacification of the corneal stroma OMIM:205400
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Corneal opacity OMIM:601812
Mucopolysaccharidosis, Type Vii
Corneal opacity OMIM:253220
Wilson Disease
Kayser-Fleischer ring ORPHA:905
De Barsy Syndrome
Cataract, Corneal opacity ORPHA:2962
Incontinentia Pigmenti
Cataract, Corneal opacity, Keratitis ORPHA:464
Mosaic Trisomy 9
Corneal opacity ORPHA:99776
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Corneal crystals OMIM:219900
Pseudo-Torch Syndrome 1
Cataract, Opacification of the corneal stroma OMIM:251290
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Mucopolysaccharidosis Type 1
Corneal opacity ORPHA:579
Fryns Syndrome
Corneal opacity ORPHA:2059
Mucopolysaccharidosis Type 3
Cataract, Opacification of the corneal stroma, Corneal opacity ORPHA:581
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Opacification of the corneal stroma, Brushfield spots OMIM:214110
Spondylodysplastic Ehlers-Danlos Syndrome
Posterior subcapsular cataract, Corneal opacity, Megalocornea, Iris coloboma ORPHA:536471
Alpha-Mannosidosis, Infantile Form
Cataract, Astigmatism, Corneal opacity ORPHA:309282
Tbck-Related Intellectual Disability Syndrome
Corneal opacity ORPHA:488632
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Corneal opacity OMIM:620519
Mucoepithelial Dysplasia, Hereditary
Cataract, Opacification of the corneal stroma, Corneal neovascularization, Keratoconjunctivitis OMIM:158310
3Mc Syndrome 3
Corneal opacity OMIM:248340
Fabry Disease
Cornea verticillata, Corneal dystrophy, Corneal opacity, Conjunctival telangiectasia, Cataract ORPHA:324
Hurler Syndrome
Corneal opacity ORPHA:93473
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea OMIM:614230
Histiocytoid Cardiomyopathy
Megalocornea, Corneal opacity, Congenital aphakia ORPHA:137675
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Astigmatism, Corneal opacity ORPHA:464311
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal neovascularization, Astigmatism, Polycoria, Microcornea, Corneal opacity, Hypoplasia of t... OMIM:175780
Carpenter Syndrome 1
Opacification of the corneal stroma, Microcornea OMIM:201000
Dyrk1A-Related Intellectual Disability Syndrome
Astigmatism, Corneal opacity ORPHA:464306
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Moebius Syndrome
Corneal opacity ORPHA:570
Congenital Disorder Of Deglycosylation 1
Corneal opacity, Corneal ulceration OMIM:615273
Mucolipidosis Iii Gamma
Opacification of the corneal stroma OMIM:252605
Mosaic Variegated Aneuploidy Syndrome
Cataract, Corneal opacity ORPHA:1052
Schimke Immunoosseous Dysplasia
Opacification of the corneal stroma, Astigmatism OMIM:242900
Mucopolysaccharidosis, Type Vi
Corneal opacity OMIM:253200
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Peters anomaly, Sclerocornea, Iris coloboma OMIM:309801
Encephalocraniocutaneous Lipomatosis
Corneal opacity, Iris coloboma ORPHA:2396
Oculocerebrorenal Syndrome Of Lowe
Corneal opacity, Cataract, Buphthalmos, Abnormal pupil morphology, Lentiglobus ORPHA:534
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity ORPHA:79396
Mucolipidosis Iii Alpha/Beta
Opacification of the corneal stroma, Hyperopic astigmatism OMIM:252600
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea OMIM:300952
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Buphthalmos, Corneal dystrophy, Corneal opacity, Keratoconjunctivitis sicca ORPHA:495875
Norrie Disease
Aplasia/Hypoplasia of the lens, Corneal opacity, Hypoplasia of the iris, Ectopia lentis, Scleroco... ORPHA:649
Ablepharon Macrostomia Syndrome
Corneal opacity, Corneal erosion ORPHA:920
Microphthalmia With Linear Skin Defects Syndrome
Posterior embryotoxon, Sclerocornea, Corneal opacity ORPHA:2556
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma ORPHA:583
Phace Syndrome
Heterochromia iridis, Sclerocornea, Lens coloboma, Cataract, Iris coloboma ORPHA:42775
Thrombocytopenia-Absent Radius Syndrome
Cataract, Corneal opacity OMIM:274000
Lathosterolosis
Cataract, Opacification of the corneal stroma, Microcornea ORPHA:46059
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma OMIM:253000
Larsen Syndrome
Corneal opacity OMIM:150250
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cataract, Opacification of the corneal stroma, Brushfield spots OMIM:214100
Proboscis Lateralis
Cataract, Microcornea, Corneal opacity, Iris coloboma ORPHA:141099
Tangier Disease
Corneal opacity ORPHA:31150
Chime Syndrome
Corneal opacity ORPHA:3474
Oculoectodermal Syndrome
Limbal dermoid, Microcornea, Astigmatism, Opacification of the corneal stroma OMIM:600268
Peters Plus Syndrome
Microcornea, Corneal opacity, Cataract, Peters anomaly, Anterior chamber synechiae, Iris coloboma ORPHA:709
Galloway-Mowat Syndrome 1
Cataract, Opacification of the corneal stroma, Hypoplasia of the iris OMIM:251300
Kindler Epidermolysis Bullosa
Corneal opacity, Conjunctivitis ORPHA:2908
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Astigmatism, Corneal erosion, Corneal opacity, Keratitis, Conjunctivitis ORPHA:2273
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cataract, Opacification of the corneal stroma, Brushfield spots OMIM:614866
Meckel Syndrome
Cataract, Microcornea, Aplasia/Hypoplasia of the iris, Sclerocornea ORPHA:564
Limb Body Wall Complex
Lens subluxation, Corneal opacity, Iris coloboma ORPHA:2369
Microphthalmia, Syndromic 3
Cataract, Sclerocornea OMIM:206900
Neurofibromatosis Type 1
Cataract, Lisch nodules, Corneal opacity, Heterochromia iridis ORPHA:636
Williams Syndrome
Corneal opacity, Megalocornea, Posterior embryotoxon, Flat cornea, Cataract, Aplasia/Hypoplasia o... ORPHA:904
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
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Corneal opacity OMIM:608670
Wolf-Hirschhorn Syndrome
Sclerocornea, Megalocornea, Iris coloboma ORPHA:280
Smith-Lemli-Opitz Syndrome
Cataract, Sclerocornea, Iris coloboma ORPHA:818
Osteogenesis Imperfecta
Corneal opacity ORPHA:666
Autosomal Dominant Cutis Laxa
Developmental cataract, Corneal opacity ORPHA:90348
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Gaucher Disease, Type Iiic
Opacification of the corneal stroma OMIM:231005
Xeroderma Pigmentosum
Pterygium, Conjunctival telangiectasia, Keratitis, Cataract, Opacification of the corneal stroma ORPHA:910
Neurocardiofaciodigital Syndrome
Cataract, Sclerocornea OMIM:619869
Stuve-Wiedemann Syndrome 1
Opacification of the corneal stroma OMIM:601559
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Corneal opacity ORPHA:2072
Mucolipidosis Ii Alpha/Beta
Opacification of the corneal stroma, Megalocornea OMIM:252500
Gaucher Disease
Corneal opacity ORPHA:355
Bartsocas-Papas Syndrome 1
Popliteal pterygium, Axillary pterygium, Corneal ulceration, Pterygium, Opacification of the corn... OMIM:263650
Fraser Syndrome 1
Corneal opacity OMIM:219000
Cockayne Syndrome B
Opacification of the corneal stroma, Microcornea, Developmental cataract, Hypoplasia of the iris OMIM:133540
Hutchinson-Gilford Progeria Syndrome
Corneal opacity, Corneal ulceration ORPHA:740
Wilson Disease
Kayser-Fleischer ring, Sunflower cataract OMIM:277900
Hereditary Acrokeratotic Poikiloderma
Opacification of the corneal stroma, Keratoconjunctivitis ORPHA:2907
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract ORPHA:85288
Wiedemann-Rautenstrauch Syndrome
Cataract, Corneal opacity ORPHA:3455
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma ORPHA:79280
Cockayne Syndrome A
Cataract, Opacification of the corneal stroma OMIM:216400
Yunis-Varon Syndrome
Cataract, Sclerocornea ORPHA:3472
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Opacification of the corneal stroma, Buphthalmos, Megalocornea OMIM:253280
Roberts-Sc Phocomelia Syndrome
Cataract, Opacification of the corneal stroma, Corneal opacity OMIM:268300
Fryns Syndrome
Opacification of the corneal stroma OMIM:229850
Digeorge Syndrome
Posterior embryotoxon, Sclerocornea OMIM:188400
Microphthalmia, Syndromic 6
Microcornea, Sclerocornea OMIM:607932
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Recurrent corneal erosions, Opacification of the corneal stroma, Corneal neovascularization, Kera... OMIM:308205
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Opacification of the corneal stroma OMIM:615287
Yunis-Varon Syndrome
Cataract, Sclerocornea OMIM:216340

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.

Phenotype Allele Zygosity Sex Life Stage
Kidney - MPATH pathological process term interstitial nephritis Shroom4tm1.1(NCOM)Mfgc HEM Early adult
Kidney - MPATH pathological process term interstitial nephritis Shroom4tm1.1(NCOM)Mfgc HOM Early adult

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 Shroom4.

No publications found that use IMPC mice or data for Shroom4.

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
Shroom4tm1.1(NCOM)Mfgc Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Shroom4tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells

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