Gene Summary

Name:
RAD54 like (S. cerevisiae)
Synonyms:
RAD54

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
sclerocornea Rad54lem1Murr HET Early adult 1.39×10-05

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 Skull Lateral Orientation

18 Images

X-ray

XRay Images Whole Body Lateral Orientation

18 Images

X-ray

XRay Images Whole Body Dorso Ventral

18 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

18 Images

X-ray

XRay Images Forepaw

18 Images

Eye Morphology

Images Slit Lamp

1 Images

Human diseases caused by Rad54l 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 Rad54l by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lymphoma, Non-Hodgkin, Familial
OMIM:605027
Breast Cancer
OMIM:114480

The table below shows human diseases predicted to be associated to Rad54l by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Dermoids Of Cornea
Corneal opacity OMIM:304730
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Megalocornea
Megalocornea OMIM:249300
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Corneal Hypesthesia, Familial
Decreased corneal sensation, Recurrent corneal erosions OMIM:122450
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Corneal Dystrophy, Subepithelial Mucinous
Corneal dystrophy OMIM:612867
Anterior Segment Dysgenesis 7
Buphthalmos, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:269400
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Sclerocornea ORPHA:83461
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Microphthalmia, Isolated 3
Sclerocornea OMIM:611038
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Anterior Segment Dysgenesis 5
Developmental cataract, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Peters ano... OMIM:604229
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Familial pterygium of the conjunctiva
Opacification of the corneal stroma ORPHA:2989
Oculoauricular Syndrome
Microphakia, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:612109
Corneal Dystrophy, Lattice Type I
Lattice corneal dystrophy, Recurrent corneal erosions OMIM:122200
Morquio Syndrome C
Corneal opacity OMIM:252300
Corneal Endothelial Dystrophy
Increased corneal thickness, Congenital corneal dystrophy, Opacification of the corneal stroma, A... OMIM:217700
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Cataract, Peters anomaly, Microcor... OMIM:610256
Brittle Cornea Syndrome 2
Keratoconus, Decreased corneal thickness, Keratoglobus, Megalocornea, Flat cornea, Sclerocornea OMIM:614170
Macular Dystrophy, Corneal
Corneal dystrophy, Punctate opacification of the cornea, Recurrent corneal erosions OMIM:217800
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Corneal Dystrophy, Reis-Bucklers Type
Corneal dystrophy, Opacification of the corneal stroma, Corneal erosion OMIM:608470
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal degeneration, Corneal stromal edema, Corneal guttata, Corneal dy... OMIM:136800
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Central corneal dystrophy, Opacification of the corneal stroma, ... ORPHA:98960
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Corneal astigmatism, Abnormal cornea morphology, Conjunctival de... OMIM:180550
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Lattice Corneal Dystrophy Type I
Decreased corneal sensation, Recurrent corneal erosions, Central posterior corneal opacity, Subep... ORPHA:98964
Anterior Segment Dysgenesis 6
Developmental glaucoma, Corneal opacity, Corneal neovascularization, Posterior synechiae of the a... OMIM:617315
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Microphthalmia, Isolated, With Coloboma 9
Ocular anterior segment dysgenesis, Microcornea, Iris coloboma, Sclerocornea OMIM:615145
Cornea Plana 2, Autosomal Recessive
Flat cornea, Decreased corneal thickness, Corneal arcus OMIM:217300
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Corneal opacity, Nuclear cataract, Abnormal corneal endothelium morphology ORPHA:293621
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Galactosialidosis
Corneal opacity ORPHA:351
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Juvenile epithelial corneal dystrophy, Corneal dystrophy OMIM:602082
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Cataract, Microcornea, Sclerocornea OMIM:615877
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal degeneration, Corneal dystrophy OMIM:610158
Anterior Segment Dysgenesis 1
Posterior polar cataract, Ocular anterior segment dysgenesis, Peters anomaly, Opacification of th... OMIM:107250
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Keratoconjunctivitis sicca, Microcornea, Sclerocornea, Corneal dystrophy ORPHA:1806
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Winchester Syndrome
Corneal opacity OMIM:277950
Macular Corneal Dystrophy
Decreased corneal sensation, Decreased corneal thickness, Opacification of the corneal stroma, Co... ORPHA:98969
Peters Anomaly
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... ORPHA:708
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Corneal opacity, Increased corneal thickness, Corneal stromal edema, Abnor... ORPHA:293603
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal stromal edema, Keratitis, Corneal guttata, Abnormal Descemet membrane morphology, Corneal... OMIM:613270
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Iris coloboma, Sclerocornea ORPHA:139471
Mietens Syndrome
Cataract, Microcornea, Corneal opacity, Sclerocornea ORPHA:2557
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Corneal Dystrophy, Posterior Polymorphous, 1
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... OMIM:122000
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Cataract 1, Multiple Types
Developmental cataract, Pulverulent cataract, Nuclear cataract, Posterior subcapsular cataract, M... OMIM:116200
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Apolipoprotein A-I Deficiency
Corneal opacity ORPHA:425
Limbal Stem Cell Deficiency
Decreased corneal reflex, Generalized opacification of the cornea, Opacification of the corneal e... ORPHA:171673
Cataract 47
Cataract, Microcornea OMIM:612018
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia OMIM:148200
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Corneal dystrophy OMIM:609141
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
3Q29 Microduplication Syndrome
Aniridia, Cataract, Iris coloboma, Sclerocornea ORPHA:251038
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Sclerocornea ORPHA:77298
Epithelial Recurrent Erosion Dystrophy
Irregular astigmatism, Recurrent corneal erosions, Subepithelial corneal opacities, Corneal scarr... ORPHA:293381
Gorlin-Chaudhry-Moss Syndrome
Astigmatism, Sclerocornea ORPHA:2095
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Abnormal anterior chamber morphology, Limbal dermoid, Sclerocornea OMIM:613001
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Corneal opacity, Sclerocornea ORPHA:284160
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Amoebic Keratitis
Decreased corneal sensation, Abnormal corneal epithelium morphology, Corneal perforation, Catarac... ORPHA:67043
Stromme Syndrome
Iris coloboma, Cataract, Peters anomaly, Microcornea, Sclerocornea OMIM:243605
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Autosomal Dominant Keratitis
Aniridia, Cataract, Keratitis, Microcornea, Opacification of the corneal stroma, Hypoplastic iris... ORPHA:2334
Herpes Simplex Virus Stromal Keratitis
Descemet Membrane Folds, Decreased corneal sensation, Corneal perforation, Deep anterior chamber,... ORPHA:137599
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Posterior embryotoxon, Iris coloboma, Corneal opacity ORPHA:1473
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Amyloidosis Of Gingiva And Conjunctiva, With Mental Retardation
Opacification of the corneal stroma OMIM:204850
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Uveal ectropion, Corneal opacity, Ectopia pupillae, Corneal stromal ... ORPHA:98973
Atopic Keratoconjunctivitis
Chemosis, Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Corneal neovascularization ORPHA:163934
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Corneal scarring, Corneal ulceration OMIM:616488
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Iris coloboma, Sclerocornea OMIM:309801
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Phace Syndrome
Heterochromia iridis, Iris coloboma, Lens coloboma, Cataract, Sclerocornea ORPHA:42775
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Ocular Cystinosis
Corneal crystals ORPHA:411641
Meckel Syndrome
Cataract, Microcornea, Aplasia/Hypoplasia of the iris, Sclerocornea ORPHA:564
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity OMIM:252650
Wolf-Hirschhorn Syndrome
Megalocornea, Iris coloboma, Sclerocornea ORPHA:280
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Smith-Lemli-Opitz Syndrome
Cataract, Iris coloboma, Sclerocornea ORPHA:818
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Developmental cataract, Corneal opacity OMIM:618815
Microphthalmia With Linear Skin Defects Syndrome
Posterior embryotoxon, Corneal opacity, Sclerocornea ORPHA:2556
Yunis-Varon Syndrome
Cataract, Sclerocornea OMIM:216340
Neurotrophic Keratopathy
Decreased corneal sensation, Corneal perforation, Corneal scarring, Corneal stromal edema, Cornea... ORPHA:137596
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Anterior cortical cataract, Corneal dystrophy OMIM:221800
Norrie Disease
Anterior chamber synechiae, Ectopia lentis, Corneal opacity, Hypoplasia of the iris, Cataract, Sc... ORPHA:649
Mucopolysaccharidoses, Unclassified Types
Opacification of the corneal stroma OMIM:252700
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Isolated Optic Nerve Hypoplasia/Aplasia
Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:137902
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Cataract, Microcornea, Astigmatism, Myopic astigmatism OMIM:152950
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Persistent pupillary membrane, Leukocoria, Iris coloboma, ... OMIM:221900
Lecithin:Cholesterol Acyltransferase Deficiency
Opacification of the corneal stroma OMIM:245900
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Norrie Disease
Hypoplasia of the iris, Cataract, Shallow anterior chamber, Opacification of the corneal stroma OMIM:310600
Bartsocas-Papas Syndrome 2
Antecubital pterygium, Popliteal pterygium, Axillary pterygium, Corneal opacity OMIM:619339
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium OMIM:270200
Lcat Deficiency
Corneal opacity ORPHA:650
Digeorge Syndrome
Posterior embryotoxon, Sclerocornea OMIM:188400
Yunis-Varon Syndrome
Cataract, Sclerocornea ORPHA:3472
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity OMIM:613153
Fish-Eye Disease
Corneal opacity ORPHA:79292
Congenital Rubella Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:290
Short Syndrome
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Megalocornea, Abnormal anterior c... ORPHA:3163
Scheie Syndrome
Corneal opacity OMIM:607016
Sialidosis Type 2
Corneal opacity ORPHA:87876
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Alpha-Mannosidosis
Cataract, Corneal opacity ORPHA:61
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Hurler-Scheie Syndrome
Corneal opacity ORPHA:93476
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Conjunctivitis, Keratitis, Corneal opacity OMIM:602562
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity ORPHA:281090
Cutis Laxa, Autosomal Dominant 3
Developmental cataract, Corneal opacity OMIM:616603
Microphthalmia, Syndromic 6
Microcornea, Sclerocornea OMIM:607932
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Coloboma, Ocular, Autosomal Dominant
Peters anomaly, Corneal opacity OMIM:120200
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Corneal opacity, Conjunctival hyperemia ORPHA:2399
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal scarring, Keratitis, Opacification of the corneal stroma, Corneal ulceration, Recurrent c... OMIM:256800
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity ORPHA:496790
Sialidosis Type 1
Cataract, Corneal opacity ORPHA:812
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Aniridia 1
Aniridia, Anterior subcapsular cataract, Corneal erosion, Ectopia lentis, Hypoplasia of the iris,... OMIM:106210
Distal Monosomy 6P
Anterior synechiae of the anterior chamber, Posterior embryotoxon, Corneal opacity, Hypoplasia of... ORPHA:96125
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Zellweger Syndrome
Cataract, Brushfield spots, Corneal opacity, Posterior embryotoxon ORPHA:912
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Lowry-Maclean Syndrome
Developmental glaucoma, Megalocornea, Corneal opacity ORPHA:2409
Hurler-Scheie Syndrome
Corneal opacity OMIM:607015
Alpha-Mannosidosis, Adult Form
Cataract, Corneal opacity ORPHA:309288
Walker-Warburg Syndrome
Cataract, Microcornea, Iris coloboma, Corneal opacity ORPHA:899
Juvenile Sialidosis Type 2
Cataract, Corneal opacity ORPHA:93399
Congenital Sialidosis Type 2
Cataract, Developmental cataract, Corneal opacity ORPHA:93400
Oculocerebrocutaneous Syndrome
Iris coloboma, Corneal opacity ORPHA:1647
Scheie Syndrome
Corneal opacity ORPHA:93474
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Multiple Sulfatase Deficiency
Cataract, Corneal opacity ORPHA:585
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Astigmatism, Corneal opacity OMIM:301056
Familial Dysautonomia
Corneal erosion, Abnormal pupil morphology, Corneal opacity, Heterochromia iridis ORPHA:1764
Sanjad-Sakati Syndrome
Astigmatism, Corneal opacity ORPHA:2323
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Corneal opacity, Ocular albinism ORPHA:2719
Cystinosis
Corneal opacity ORPHA:213
Hurler Syndrome
Opacification of the corneal stroma, Corneal opacity OMIM:607014
Gm1 Gangliosidosis
Corneal opacity ORPHA:354
Fucosidosis
Corneal opacity ORPHA:349
Schimke Immuno-Osseous Dysplasia
Corneal opacity ORPHA:1830
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity OMIM:163200
Farber Disease
Opacification of the corneal stroma, Corneal opacity, Abnormal conjunctiva morphology ORPHA:333
Mucopolysaccharidosis Type 7
Corneal opacity ORPHA:584
Multiple Sulfatase Deficiency
Corneal opacity OMIM:272200
Mucopolysaccharidosis, Type Vii
Corneal opacity OMIM:253220
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Corneal opacity, Cataract, Megalocornea, Peters anomaly OMIM:236670
Wilson Disease
Kayser-Fleischer ring ORPHA:905
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Focal Dermal Hypoplasia
Hypoplasia of the iris, Ectopia lentis, Iris coloboma, Corneal opacity ORPHA:2092
Mosaic Trisomy 9
Corneal opacity ORPHA:99776
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Incontinentia Pigmenti
Cataract, Keratitis, Corneal opacity ORPHA:464
Tbck-Related Intellectual Disability Syndrome
Corneal opacity ORPHA:488632
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Developmental cataract, Polycoria, Corneal opacity, Hypoplasia of the iris, Ectopia pupillae, Mic... OMIM:175780
Mucopolysaccharidosis Type 1
Corneal opacity ORPHA:579
Fryns Syndrome
Corneal opacity ORPHA:2059
De Barsy Syndrome
Cataract, Corneal opacity ORPHA:2962
Mucopolysaccharidosis Type 3
Cataract, Opacification of the corneal stroma, Corneal opacity ORPHA:581
3Mc Syndrome 3
Corneal opacity OMIM:248340
Alpha-Mannosidosis, Infantile Form
Cataract, Astigmatism, Corneal opacity ORPHA:309282
Congenital Disorder Of Deglycosylation
Corneal opacity, Corneal ulceration OMIM:615273
Wilson Disease
Kayser-Fleischer ring OMIM:277900
Histiocytoid Cardiomyopathy
Congenital aphakia, Megalocornea, Corneal opacity ORPHA:137675
Moebius Syndrome
Corneal opacity ORPHA:570
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Astigmatism, Corneal opacity ORPHA:464311
Hurler Syndrome
Corneal opacity ORPHA:93473
Fabry Disease
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy ORPHA:324
Dyrk1A-Related Intellectual Disability Syndrome
Astigmatism, Corneal opacity ORPHA:464306
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity ORPHA:79396
Mosaic Variegated Aneuploidy Syndrome
Cataract, Corneal opacity ORPHA:1052
Encephalocraniocutaneous Lipomatosis
Iris coloboma, Corneal opacity ORPHA:2396
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Buphthalmos, Keratoconjunctivitis sicca, Corneal opacity, Corneal dystrophy ORPHA:495875
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Lentiglobus, Corneal opacity, Cataract, Abnormal pupil morphology ORPHA:534
Larsen Syndrome
Corneal opacity OMIM:150250
Ablepharon Macrostomia Syndrome
Corneal opacity, Corneal erosion ORPHA:920
Tangier Disease
Corneal opacity ORPHA:31150
Chime Syndrome
Corneal opacity ORPHA:3474
Spondylodysplastic Ehlers-Danlos Syndrome
Posterior subcapsular cataract, Megalocornea, Iris coloboma, Corneal opacity ORPHA:536471
Neurofibromatosis Type 1
Cataract, Lisch nodules, Corneal opacity, Heterochromia iridis ORPHA:636
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Corneal erosion, Corneal opacity, Conjunctivitis, Keratitis, Astigmatism ORPHA:2273
Kindler Epidermolysis Bullosa
Conjunctivitis, Corneal opacity ORPHA:2908
Mucopolysaccharidosis Type 2
Corneal opacity ORPHA:580
Mucopolysaccharidosis Type 2, Severe Form
Corneal opacity ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Corneal opacity ORPHA:217093
Limb Body Wall Complex
Iris coloboma, Corneal opacity, Lens subluxation ORPHA:2369
Williams Syndrome
Posterior embryotoxon, Aplasia/Hypoplasia of the iris, Corneal opacity, Cataract, Flat cornea, Me... ORPHA:904
Peters Plus Syndrome
Anterior chamber synechiae, Iris coloboma, Corneal opacity, Cataract, Peters anomaly, Microcornea ORPHA:709
Gaucher Disease
Corneal opacity ORPHA:355
Osteogenesis Imperfecta
Corneal opacity ORPHA:666
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Corneal opacity ORPHA:2072
Hutchinson-Gilford Progeria Syndrome
Corneal opacity, Corneal ulceration ORPHA:740
Fraser Syndrome 1
Corneal opacity OMIM:219000
Wiedemann-Rautenstrauch Syndrome
Cataract, Corneal opacity ORPHA:3455
Breast Cancer
OMIM:114480
Lymphoma, Non-Hodgkin, Familial
OMIM:605027

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 Rad54l

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 Rad54l.

No publications found that use IMPC mice or data for Rad54l.

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MGI Allele Allele Type Produced
Rad54ltm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rad54ltm361328(L1L2_Bact_P) Targeting vectors
Rad54lem1Murr Indel causing a Frameshift Mutation Mice

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