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 5.71×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
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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

X-ray

XRay Images Skull Dorso Ventral Orientation

18 Images

X-ray

XRay Images Forepaw

18 Images

X-ray

XRay Images Whole Body Lateral Orientation

18 Images

X-ray

XRay Images Skull Lateral Orientation

18 Images

Eye Morphology

Images Slit Lamp

1 Images

Auditory Brain Stem Response

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

14 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
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Dermoids Of Cornea
Corneal opacity OMIM:304730
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
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
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat cornea OMIM:217300
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Anterior Segment Dysgenesis 5
Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Developmental catarac... OMIM:604229
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Corneal dystrophy, Map-dot-fingerprint corneal dystrophy 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
Corneal Dystrophy, Lattice Type I
Recurrent corneal erosions, Lattice corneal dystrophy OMIM:122200
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea 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
Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Sclerocornea, Flat cornea, ... OMIM:614170
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Thiel-Behnke Corneal Dystrophy
Recurrent corneal erosions, Astigmatism, Subepithelial corneal opacities, Central corneal dystrop... ORPHA:98960
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Corneal stromal edema, Corneal dystrophy, Descemet Membrane Folds, Corneal ... OMIM:136800
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnormal con... OMIM:180550
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Anterior Segment Dysgenesis 6
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... OMIM:617315
Lattice Corneal Dystrophy Type I
Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification... ORPHA:98964
Congenital Primary Aphakia
Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, C... ORPHA:83461
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
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal opacity, Corneal erosion OMIM:608470
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Granular Corneal Dystrophy Type Ii
Recurrent corneal erosions, Granular corneal dystrophy, Central opacification of the cornea, Sube... ORPHA:98963
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Galactosialidosis
Corneal opacity ORPHA:351
Microphthalmia/Coloboma 9
Ocular anterior segment dysgenesis, Sclerocornea, Microcornea, Iris coloboma OMIM:615145
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal dystrophy, Corneal scarring OMIM:602082
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal dystrophy, Corneal guttata OMIM:610158
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Ectodermal Dysplasia-Blindness Syndrome
Corneal dystrophy, Microcornea, Sclerocornea, Cataract, Keratoconjunctivitis sicca ORPHA:1806
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c... OMIM:107250
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Increased corneal ... ORPHA:293603
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal stromal edema, Corneal dystrophy, Corneal guttata, Abnormal Descemet membrane morphology,... OMIM:613270
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Sclerocornea, Iris coloboma ORPHA:139471
Corneal Dystrophy, Posterior Polymorphous, 1
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... OMIM:122000
Mietens Syndrome
Cataract, Microcornea, Sclerocornea, Corneal opacity ORPHA:2557
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal dystrophy, Corneal guttata OMIM:613268
Macular Corneal Dystrophy
Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy... ORPHA:98969
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Granular Corneal Dystrophy Type I
Recurrent corneal erosions, Abnormal corneal epithelium morphology, Central opacification of the ... ORPHA:98962
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Cataract 1, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Microcornea, Pulverulent cataract OMIM:116200
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Cataract 47
Cataract, Microcornea OMIM:612018
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Microcornea, Posterior embryotoxon, D... OMIM:612109
Fuchs Endothelial Corneal Dystrophy
Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Reduced number of... ORPHA:98974
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Corneal... ORPHA:171673
Al-Gazali Syndrome
Sclerocornea, Corneal opacity OMIM:609465
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Aniridia, Iris coloboma ORPHA:251038
Epithelial Recurrent Erosion Dystrophy
Recurrent corneal erosions, Corneal dystrophy, Subepithelial corneal opacities, Corneal scarring,... ORPHA:293381
Winchester Syndrome
Corneal opacity OMIM:277950
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Iris coloboma ORPHA:77298
Gorlin-Chaudhry-Moss Syndrome
Astigmatism, Sclerocornea ORPHA:2095
8Q21.11 Microdeletion Syndrome
Cataract, Iris hypopigmentation, Sclerocornea, Corneal opacity 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
Cataract, Microcornea, Sclerocornea, Ectopia pupillae OMIM:615877
Stromme Syndrome
Microcornea, Sclerocornea, Cataract, Peters anomaly, Iris coloboma OMIM:243605
Encephalocraniocutaneous Lipomatosis
Limbal dermoid, Sclerocornea, Hypoplasia of the iris OMIM:613001
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... ORPHA:2334
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Posterior embryotoxon, Corneal opacity, Iris coloboma ORPHA:1473
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Corneal Dystrophy, Posterior Amorphous
Corneal dystrophy, Ectopia pupillae, Iris coloboma OMIM:612868
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea OMIM:614230
Posterior Polymorphous Corneal Dystrophy
Astigmatism, Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Incre... ORPHA:98973
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea OMIM:300952
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Corneal dystrophy, Ectopia pupillae, Corneal guttata OMIM:609141
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Peters anomaly, Sclerocornea, Iris coloboma OMIM:309801
Gelatinous Drop-Like Corneal Dystrophy
Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacities, Central op... ORPHA:98957
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Ocular Cystinosis
Corneal crystals ORPHA:411641
Phace Syndrome
Heterochromia iridis, Sclerocornea, Lens coloboma, Cataract, Iris coloboma ORPHA:42775
Atopic Keratoconjunctivitis
Corneal neovascularization, Corneal opacity, Corneal scarring, Chemosis, Conjunctival hyperemia, ... ORPHA:163934
Microphthalmia, Syndromic 3
Cataract, Sclerocornea OMIM:206900
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity OMIM:252650
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Smith-Lemli-Opitz Syndrome
Cataract, Sclerocornea, Iris coloboma ORPHA:818
Wolf-Hirschhorn Syndrome
Sclerocornea, Megalocornea, Iris coloboma ORPHA:280
Meckel Syndrome
Cataract, Microcornea, Aplasia/Hypoplasia of the iris, Sclerocornea ORPHA:564
Brachyolmia Type 1, Hobaek Type
Opacification of the corneal stroma, Corneal opacity OMIM:271530
Norrie Disease
Buphthalmos, Corneal opacity, Hypoplasia of the iris, Shallow anterior chamber, Leukocoria, Catar... OMIM:310600
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Developmental cataract, Corneal opacity OMIM:618815
Dermochondrocorneal Dystrophy
Corneal dystrophy, Subepithelial corneal opacities, Anterior cortical cataract OMIM:221800
Neurocardiofaciodigital Syndrome
Cataract, Sclerocornea OMIM:619869
Microphthalmia With Linear Skin Defects Syndrome
Posterior embryotoxon, Sclerocornea, Corneal opacity ORPHA:2556
Norrie Disease
Aplasia/Hypoplasia of the lens, Corneal opacity, Hypoplasia of the iris, Ectopia lentis, Scleroco... ORPHA:649
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Leukocoria... OMIM:221900
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Astigmatism, Myopic astigmatism, Microcornea, Corneal opacity, Cataract OMIM:152950
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Fish-Eye Disease
Corneal opacity ORPHA:79292
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Antecubital pterygium, Corneal opacity OMIM:619339
Yunis-Varon Syndrome
Cataract, Sclerocornea ORPHA:3472
Harel-Yoon Syndrome
Developmental cataract, Corneal opacity OMIM:617183
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Sialidosis Type 2
Corneal opacity ORPHA:87876
Congenital Rubella Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:290
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity OMIM:613153
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Astigmatism OMIM:270200
Short Syndrome
Abnormal anterior chamber morphology, Corneal opacity, Megalocornea, Hypoplasia of the iris, Post... ORPHA:3163
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Developmental glaucoma, Corneal opacity, Aniridia ORPHA:1064
Hurler-Scheie Syndrome
Corneal opacity ORPHA:93476
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Alpha-Mannosidosis
Cataract, Corneal opacity ORPHA:61
Digeorge Syndrome
Posterior embryotoxon, Sclerocornea OMIM:188400
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Corneal opacity, Conjunctivitis OMIM:602562
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity ORPHA:281090
Persistent Hyperplastic Primary Vitreous
Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Developmen... ORPHA:91495
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Microphthalmia, Syndromic 6
Microcornea, Sclerocornea OMIM:607932
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity ORPHA:496790
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Aniridia 1
Corneal neovascularization, Aniridia, Corneal erosion, Hypoplasia of the iris, Anterior subcapsul... OMIM:106210
Insensitivity To Pain, Congenital, With Anhidrosis
Recurrent corneal erosions, Corneal ulceration, Corneal scarring, Keratitis, Opacification of the... OMIM:256800
Lcat Deficiency
Corneal opacity ORPHA:650
Sialidosis Type 1
Cataract, Corneal opacity ORPHA:812
Microphthalmia/Coloboma 12
Peters anomaly, Corneal opacity OMIM:120200
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Distal Deletion 6P
Abnormal anterior chamber morphology, Corneal opacity, Hypoplasia of the iris, Posterior embryoto... ORPHA:96125
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Corneal opacity OMIM:620469
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Yunis-Varon Syndrome
Cataract, Sclerocornea OMIM:216340
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Alpha-Mannosidosis, Adult Form
Cataract, Corneal opacity ORPHA:309288
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Zellweger Syndrome
Cataract, Posterior embryotoxon, Corneal opacity, Brushfield spots ORPHA:912
Lowry-Maclean Syndrome
Developmental glaucoma, Corneal opacity, Megalocornea ORPHA:2409
Walker-Warburg Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma ORPHA:899
Scheie Syndrome
Corneal opacity ORPHA:93474
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Astigmatism, Corneal opacity OMIM:301056
Juvenile Sialidosis Type 2
Cataract, Corneal opacity ORPHA:93399
Congenital Sialidosis Type 2
Cataract, Developmental cataract, Corneal opacity ORPHA:93400
Wagro Syndrome
Cataract, Corneal opacity, Aniridia OMIM:612469
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
Oculocerebrocutaneous Syndrome
Corneal opacity, Iris coloboma ORPHA:1647
Scheie Syndrome
Corneal opacity OMIM:607016
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Cystinosis
Corneal opacity ORPHA:213
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
Sanjad-Sakati Syndrome
Astigmatism, Corneal opacity ORPHA:2323
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cataract, Iris hypopigmentation, Corneal opacity, Ocular albinism ORPHA:2719
Mucolipidosis Type Iii Alpha/Beta
Corneal opacity ORPHA:423461
Hurler-Scheie Syndrome
Corneal opacity OMIM:607015
Fucosidosis
Corneal opacity ORPHA:349
Gm1 Gangliosidosis
Corneal opacity ORPHA:354
Farber Disease
Opacification of the corneal stroma, Corneal opacity, Abnormal conjunctiva morphology ORPHA:333
Schimke Immuno-Osseous Dysplasia
Corneal opacity ORPHA:1830
Mucopolysaccharidosis Type 7
Corneal opacity ORPHA:584
Multiple Sulfatase Deficiency
Corneal opacity OMIM:272200
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity OMIM:163200
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Corneal opacity, Ectopia pupillae ORPHA:85167
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Corneal opacity, Megalocornea, Cataract, Buphthalmos, Peters anomaly OMIM:236670
Hurler Syndrome
Opacification of the corneal stroma, Corneal opacity OMIM:607014
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Lens subluxation, Corneal opacity, Ectopia pupillae OMIM:608940
Focal Dermal Hypoplasia
Ectopia lentis, Iris coloboma, Corneal opacity, Hypoplasia of the iris 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
De Barsy Syndrome
Cataract, Corneal opacity ORPHA:2962
Incontinentia Pigmenti
Cataract, Corneal opacity, Keratitis ORPHA:464
Mosaic Trisomy 9
Corneal opacity ORPHA:99776
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
3Mc Syndrome 3
Corneal opacity OMIM:248340
Spondylodysplastic Ehlers-Danlos Syndrome
Posterior subcapsular cataract, Corneal opacity, Megalocornea, Iris coloboma ORPHA:536471
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Corneal opacity OMIM:620519
Alpha-Mannosidosis, Infantile Form
Cataract, Astigmatism, Corneal opacity ORPHA:309282
Tbck-Related Intellectual Disability Syndrome
Corneal opacity ORPHA:488632
Fabry Disease
Cornea verticillata, Corneal dystrophy, Corneal opacity, Conjunctival telangiectasia, Cataract ORPHA:324
Hurler Syndrome
Corneal opacity ORPHA:93473
Histiocytoid Cardiomyopathy
Megalocornea, Corneal opacity, Congenital aphakia ORPHA:137675
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal neovascularization, Astigmatism, Polycoria, Microcornea, Corneal opacity, Hypoplasia of t... OMIM:175780
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Astigmatism, Corneal opacity ORPHA:464311
Dyrk1A-Related Intellectual Disability Syndrome
Astigmatism, Corneal opacity ORPHA:464306
Moebius Syndrome
Corneal opacity ORPHA:570
Congenital Disorder Of Deglycosylation 1
Corneal opacity, Corneal ulceration OMIM:615273
Mosaic Variegated Aneuploidy Syndrome
Cataract, Corneal opacity ORPHA:1052
Mucopolysaccharidosis, Type Vi
Corneal opacity OMIM:253200
Encephalocraniocutaneous Lipomatosis
Corneal opacity, Iris coloboma ORPHA:2396
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity ORPHA:79396
Oculocerebrorenal Syndrome Of Lowe
Corneal opacity, Cataract, Buphthalmos, Abnormal pupil morphology, Lentiglobus ORPHA:534
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Buphthalmos, Corneal dystrophy, Corneal opacity, Keratoconjunctivitis sicca ORPHA:495875
Ablepharon Macrostomia Syndrome
Corneal opacity, Corneal erosion ORPHA:920
Thrombocytopenia-Absent Radius Syndrome
Cataract, Corneal opacity OMIM:274000
Larsen Syndrome
Corneal opacity OMIM:150250
Tangier Disease
Corneal opacity ORPHA:31150
Proboscis Lateralis
Cataract, Microcornea, Corneal opacity, Iris coloboma ORPHA:141099
Chime Syndrome
Corneal opacity ORPHA:3474
Peters Plus Syndrome
Microcornea, Corneal opacity, Cataract, Peters anomaly, Anterior chamber synechiae, Iris coloboma ORPHA:709
Kindler Epidermolysis Bullosa
Corneal opacity, Conjunctivitis ORPHA:2908
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Astigmatism, Corneal erosion, Corneal opacity, Keratitis, Conjunctivitis ORPHA:2273
Limb Body Wall Complex
Lens subluxation, Corneal opacity, Iris coloboma ORPHA:2369
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
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Corneal opacity OMIM:608670
Mucopolysaccharidosis Type 2, Attenuated Form
Corneal opacity ORPHA:217093
Osteogenesis Imperfecta
Corneal opacity ORPHA:666
Autosomal Dominant Cutis Laxa
Developmental cataract, Corneal opacity ORPHA:90348
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Corneal opacity ORPHA:2072
Gaucher Disease
Corneal opacity ORPHA:355
Fraser Syndrome 1
Corneal opacity OMIM:219000
Wilson Disease
Kayser-Fleischer ring, Sunflower cataract OMIM:277900
Hutchinson-Gilford Progeria Syndrome
Corneal opacity, Corneal ulceration ORPHA:740
Wiedemann-Rautenstrauch Syndrome
Cataract, Corneal opacity ORPHA:3455
Roberts-Sc Phocomelia Syndrome
Cataract, Opacification of the corneal stroma, Corneal opacity 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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