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Gene: Rad54l MGI:894697

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Gene Summary

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

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
sclerocornea Rad54lem1Murr HET Early adult 1.99×10-05

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 Whole Body Dorso Ventral

18 Images

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X-ray

XRay Images Skull Lateral Orientation

18 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

18 Images

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X-ray

XRay Images Whole Body Lateral Orientation

18 Images

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X-ray

XRay Images Forepaw

18 Images

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Eye Morphology

Images Slit Lamp

1 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

14 Images

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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
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Dermoids Of Cornea
Corneal opacity OMIM:304730
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline 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
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea ORPHA:83461
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Anterior Segment Dysgenesis 5
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... OMIM:604229
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions OMIM:121820
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Corneal Dystrophy, Lattice Type I
Lattice corneal dystrophy, Recurrent corneal erosions OMIM:122200
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Morquio Syndrome C
Corneal opacity OMIM:252300
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... OMIM:614170
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions OMIM:217800
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... OMIM:610202
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma OMIM:608470
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... ORPHA:98963
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Galactosialidosis
Corneal opacity ORPHA:351
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Microphthalmia, Isolated, With Coloboma 9
Microcornea, Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea OMIM:615145
Corneal Dystrophy, Thiel-Behnke Type
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy OMIM:602082
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal dystrophy, Corneal guttata OMIM:610158
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca ORPHA:1806
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... OMIM:613270
Microphthalmia With Brain And Digit Anomalies
Microcornea, Cataract, Iris coloboma, Sclerocornea ORPHA:139471
Mietens Syndrome
Microcornea, Cataract, Corneal opacity, Sclerocornea ORPHA:2557
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal dystrophy, Corneal guttata OMIM:613268
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Keratoendotheliitis Fugax Hereditaria
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma OMIM:148200
Cataract 47
Microcornea, Cataract OMIM:612018
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Oculoauricular Syndrome
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... OMIM:612109
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Al-Gazali Syndrome
Corneal opacity, Sclerocornea OMIM:609465
3Q29 Microduplication Syndrome
Aniridia, Cataract, Iris coloboma, Sclerocornea ORPHA:251038
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Winchester Syndrome
Corneal opacity OMIM:277950
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Sclerocornea ORPHA:77298
Gorlin-Chaudhry-Moss Syndrome
Astigmatism, Sclerocornea ORPHA:2095
8Q21.11 Microdeletion Syndrome
Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation ORPHA:284160
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microcornea, Ectopia pupillae, Cataract, Sclerocornea OMIM:615877
Stromme Syndrome
Cataract, Sclerocornea, Microcornea, Peters anomaly, Iris coloboma OMIM:243605
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Limbal dermoid, Sclerocornea OMIM:613001
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma ORPHA:1473
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea OMIM:614230
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... ORPHA:98973
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea OMIM:300952
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Atopic Keratoconjunctivitis
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization ORPHA:163934
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Iris coloboma, Sclerocornea, Peters anomaly OMIM:309801
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... ORPHA:98957
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Ocular Cystinosis
Corneal crystals ORPHA:411641
Phace Syndrome
Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma ORPHA:42775
Microphthalmia, Syndromic 3
Cataract, Sclerocornea OMIM:206900
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Mucolipidosis Iv
Corneal opacity, Opacification of the corneal stroma OMIM:252650
Meckel Syndrome
Microcornea, Aplasia/Hypoplasia of the iris, Cataract, Sclerocornea ORPHA:564
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Smith-Lemli-Opitz Syndrome
Cataract, Iris coloboma, Sclerocornea ORPHA:818
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Developmental cataract OMIM:618815
Wolf-Hirschhorn Syndrome
Megalocornea, Iris coloboma, Sclerocornea ORPHA:280
Microphthalmia With Linear Skin Defects Syndrome
Posterior embryotoxon, Corneal opacity, Sclerocornea ORPHA:2556
Norrie Disease
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal... ORPHA:649
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Neurocardiofaciodigital Syndrome
Cataract, Sclerocornea OMIM:619869
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... OMIM:221900
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism OMIM:152950
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium OMIM:619339
Fish-Eye Disease
Corneal opacity ORPHA:79292
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Yunis-Varon Syndrome
Cataract, Sclerocornea ORPHA:3472
Harel-Yoon Syndrome
Corneal opacity, Developmental cataract OMIM:617183
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Scheie Syndrome
Corneal opacity OMIM:607016
Sialidosis Type 2
Corneal opacity ORPHA:87876
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity ORPHA:290
Sjogren-Larsson Syndrome
Astigmatism, Opacification of the corneal epithelium OMIM:270200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity OMIM:613153
Short Syndrome
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... ORPHA:3163
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Alpha-Mannosidosis
Cataract, Corneal opacity ORPHA:61
Hurler-Scheie Syndrome
Corneal opacity ORPHA:93476
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Conjunctivitis, Corneal opacity OMIM:602562
Digeorge Syndrome
Posterior embryotoxon, Sclerocornea OMIM:188400
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity ORPHA:281090
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Microphthalmia, Syndromic 6
Microcornea, Sclerocornea OMIM:607932
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity ORPHA:496790
Lcat Deficiency
Corneal opacity ORPHA:650
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor... OMIM:256800
Sialidosis Type 1
Cataract, Corneal opacity ORPHA:812
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Peters anomaly OMIM:120200
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Autosomal Recessive Cutis Laxa Type 2A
Abnormal cornea morphology, Corneal opacity ORPHA:357058
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Yunis-Varon Syndrome
Cataract, Sclerocornea OMIM:216340
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Alpha-Mannosidosis, Adult Form
Cataract, Corneal opacity ORPHA:309288
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Lowry-Maclean Syndrome
Developmental glaucoma, Megalocornea, Corneal opacity ORPHA:2409
Zellweger Syndrome
Brushfield spots, Posterior embryotoxon, Corneal opacity, Cataract ORPHA:912
Walker-Warburg Syndrome
Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:899
Juvenile Sialidosis Type 2
Cataract, Corneal opacity ORPHA:93399
Congenital Sialidosis Type 2
Cataract, Corneal opacity, Developmental cataract ORPHA:93400
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Astigmatism, Corneal opacity OMIM:301056
Wagro Syndrome
Aniridia, Cataract, Corneal opacity OMIM:612469
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Cataract, Corneal opacity ORPHA:2399
Scheie Syndrome
Corneal opacity ORPHA:93474
Oculocerebrocutaneous Syndrome
Corneal opacity, Iris coloboma ORPHA:1647
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Developmental cataract OMIM:616603
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Multiple Sulfatase Deficiency
Cataract, Corneal opacity ORPHA:585
Cystinosis
Corneal opacity ORPHA:213
Familial Dysautonomia
Abnormal pupil morphology, Heterochromia iridis, Corneal erosion, Corneal opacity ORPHA:1764
Sanjad-Sakati Syndrome
Astigmatism, Corneal opacity ORPHA:2323
Hurler-Scheie Syndrome
Corneal opacity OMIM:607015
Oculocerebral Hypopigmentation Syndrome, Cross Type
Ocular albinism, Cataract, Corneal opacity, Iris hypopigmentation ORPHA:2719
Mucopolysaccharidosis, Type Ivb
Corneal opacity, Opacification of the corneal stroma OMIM:253010
Farber Disease
Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corneal stroma ORPHA:333
Gm1 Gangliosidosis
Corneal opacity ORPHA:354
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma ORPHA:425
Fucosidosis
Corneal opacity ORPHA:349
Schimke Immuno-Osseous Dysplasia
Corneal opacity ORPHA:1830
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity OMIM:163200
Mucopolysaccharidosis Type 7
Corneal opacity ORPHA:584
Multiple Sulfatase Deficiency
Corneal opacity OMIM:272200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Corneal opacity, Buphthalmos, Peters anomaly, Megalocornea OMIM:236670
Hurler Syndrome
Corneal opacity, Opacification of the corneal stroma OMIM:607014
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Focal Dermal Hypoplasia
Hypoplasia of the iris, Corneal opacity, Iris coloboma, Ectopia lentis ORPHA:2092
Wilson Disease
Kayser-Fleischer ring ORPHA:905
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
Mosaic Trisomy 9
Corneal opacity ORPHA:99776
De Barsy Syndrome
Cataract, Corneal opacity ORPHA:2962
Incontinentia Pigmenti
Keratitis, Cataract, Corneal opacity ORPHA:464
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
3Mc Syndrome 3
Corneal opacity OMIM:248340
Fryns Syndrome
Corneal opacity ORPHA:2059
Dyggve-Melchior-Clausen Disease
Corneal opacity ORPHA:239
Spondylodysplastic Ehlers-Danlos Syndrome
Posterior subcapsular cataract, Megalocornea, Corneal opacity, Iris coloboma ORPHA:536471
Tbck-Related Intellectual Disability Syndrome
Corneal opacity ORPHA:488632
Mucopolysaccharidosis Type 1
Corneal opacity ORPHA:579
Alpha-Mannosidosis, Infantile Form
Astigmatism, Corneal opacity, Cataract ORPHA:309282
Mucopolysaccharidosis Type 3
Cataract, Corneal opacity, Opacification of the corneal stroma ORPHA:581
Hurler Syndrome
Corneal opacity ORPHA:93473
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of the iris, Ectopia ... OMIM:175780
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
Moebius Syndrome
Corneal opacity ORPHA:570
Fabry Disease
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy ORPHA:324
Dyrk1A-Related Intellectual Disability Syndrome
Astigmatism, Corneal opacity ORPHA:464306
Mosaic Variegated Aneuploidy Syndrome
Cataract, Corneal opacity ORPHA:1052
Congenital Disorder Of Deglycosylation 1
Corneal ulceration, Corneal opacity OMIM:615273
Oculocerebrorenal Syndrome Of Lowe
Cataract, Corneal opacity, Abnormal pupil morphology, Buphthalmos, Lentiglobus ORPHA:534
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity ORPHA:79396
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Buphthalmos, Keratoconjunctivitis sicca, Corneal opacity, Corneal dystrophy ORPHA:495875
Mucopolysaccharidosis, Type Vi
Corneal opacity OMIM:253200
Encephalocraniocutaneous Lipomatosis
Corneal opacity, Iris coloboma ORPHA:2396
Ablepharon Macrostomia Syndrome
Corneal erosion, Corneal opacity ORPHA:920
Thrombocytopenia-Absent Radius Syndrome
Cataract, Corneal opacity OMIM:274000
Tangier Disease
Corneal opacity ORPHA:31150
Larsen Syndrome
Corneal opacity OMIM:150250
Proboscis Lateralis
Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:141099
Chime Syndrome
Corneal opacity ORPHA:3474
Neurofibromatosis Type 1
Corneal opacity, Cataract, Heterochromia iridis, Lisch nodules ORPHA:636
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Corneal opacity, Keratitis, Corneal erosion, Astigmatism, Conjunctivitis ORPHA:2273
Peters Plus Syndrome
Cataract, Corneal opacity, Microcornea, Peters anomaly, Iris coloboma, Anterior chamber synechiae ORPHA:709
Kindler Epidermolysis Bullosa
Conjunctivitis, Corneal opacity ORPHA:2908
Limb Body Wall Complex
Lens subluxation, Corneal opacity, Iris coloboma ORPHA:2369
Williams Syndrome
Flat cornea, Corneal opacity, Cataract, Blue irides, Aplasia/Hypoplasia of the iris, Megalocornea... ORPHA:904
Mucopolysaccharidosis Type 2, Severe Form
Corneal opacity ORPHA:217085
Mucopolysaccharidosis Type 2
Corneal opacity ORPHA:580
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Corneal opacity OMIM:608670
Wilson Disease
Kayser-Fleischer ring OMIM:277900
Mucopolysaccharidosis Type 2, Attenuated Form
Corneal opacity ORPHA:217093
Autosomal Dominant Cutis Laxa
Corneal opacity, Developmental cataract ORPHA:90348
Osteogenesis Imperfecta
Corneal opacity ORPHA:666
Gaucher Disease
Corneal opacity ORPHA:355
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Corneal opacity ORPHA:2072
Fraser Syndrome 1
Corneal opacity OMIM:219000
Hutchinson-Gilford Progeria Syndrome
Corneal ulceration, Corneal opacity ORPHA:740
Wiedemann-Rautenstrauch Syndrome
Cataract, Corneal opacity ORPHA:3455
Roberts-Sc Phocomelia Syndrome
Cataract, Corneal opacity, Opacification of the corneal stroma OMIM:268300
Lymphoma, Non-Hodgkin, Familial
OMIM:605027
Breast Cancer
OMIM:114480

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.

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
Rad54ltm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rad54lem1Murr Indel Mice
Rad54ltm361328(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Rad54ltm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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