Gene Summary

Name:
DExD box helicase 21
Synonyms:
RH-II/Gualpha,  D10Ertd645e,  DEAD (Asp-Glu-Ala-Asp) box polypeptide 21,  D10Wsu42e,  RH II/Gu

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
preweaning lethality, complete penetrance Ddx21em1(IMPC)Bay HOM   Early adult 0.00
increased cornea thickness Ddx21em1(IMPC)Bay HET Early adult 2.04×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

Eye Morphology

VIP of right eye

15 Images

Eye Morphology

VIP of left fundus

15 Images

Eye Morphology

VIP of left eye

15 Images

Eye Morphology

VIP of right fundus

15 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

Human diseases caused by Ddx21 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ddx21 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Corneal Endothelial Dystrophy
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... OMIM:217700
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Corneal Dystrophy, Subepithelial Mucinous
Corneal dystrophy OMIM:612867
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Dermoids Of Cornea
Corneal opacity OMIM:304730
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Band keratopathy, Corneal dystrophy OMIM:300779
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Band-shaped corneal dystrophy, Corneal erosion, Corneal dystrophy OMIM:610048
Corneal Hypesthesia, Familial
Recurrent corneal erosions OMIM:122450
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Corneal Dystrophy, Lattice Type I
Recurrent corneal erosions, Lattice corneal dystrophy OMIM:122200
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Edict Syndrome
Microcornea, Astigmatism, Hypoplasia of the iris, Keratoconus, Developmental cataract OMIM:614303
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Macular Corneal Dystrophy
Punctate opacification of the cornea, Opacification of the corneal stroma, Recurrent corneal eros... ORPHA:98969
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal opacity, Irregular astigmatism, Corneal stromal edema, Abnormal Descemet membrane morphol... ORPHA:293603
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal stromal edema, Descemet Membrane Folds, Corneal degeneration, Corneal dystrophy, Corneal ... OMIM:136800
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal astigmatism, Conjunctival de... OMIM:180550
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Brittle Cornea Syndrome 2
Flat cornea, Megalocornea, Keratoconus, Keratoglobus, Sclerocornea, Decreased corneal thickness OMIM:614170
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Recurrent corneal erosions, Corneal dystrophy OMIM:217800
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal dystrophy, Corneal degeneration OMIM:610158
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Corneal Dystrophy, Fuchs Endothelial, 6
Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal dystrophy, Corne... OMIM:613270
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Cataract 1, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... OMIM:116200
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Cataract 47
Cataract, Microcornea OMIM:612018
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy OMIM:602082
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Corneal dystrophy OMIM:609141
Brittle Cornea Syndrome 1
Abnormal cornea morphology, Keratoconus, Keratoglobus, Decreased corneal thickness OMIM:229200
Lattice Corneal Dystrophy Type I
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... ORPHA:98964
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... OMIM:617315
Leber Congenital Amaurosis 4
Keratoconus OMIM:604393
Anterior Segment Dysgenesis 1
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... OMIM:107250
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Leber Congenital Amaurosis 2
Keratoconus, Cataract OMIM:204100
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity OMIM:244600
Leber Congenital Amaurosis
Keratoconus, Cataract ORPHA:65
Leber Congenital Amaurosis 1
Keratoconus, Cataract OMIM:204000
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus OMIM:609438
Leber Congenital Amaurosis 8
Keratoconus, Cataract OMIM:613835
Corneal Dystrophy, Posterior Polymorphous, 1
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... OMIM:122000
Retinitis Pigmentosa
Keratoconus, Cataract ORPHA:791
Brittle Cornea Syndrome
Corneal scarring, Corneal erosion, Corneal dystrophy, Keratoglobus, Decreased corneal thickness ORPHA:90354
Arthrogryposis, Distal, Type 5
Keratoconus, Keratoglobus, Astigmatism OMIM:108145
Microtriplication 11Q24.1
Keratoconus ORPHA:289522
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Decreased corneal thickness ORPHA:293967
Leber Congenital Amaurosis 9
Keratoconus OMIM:608553
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus ORPHA:401777
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Conjunctivitis OMIM:242150
Nail-Patella Syndrome
Microphakia, Microcornea, Keratoconus, Cataract, Lester's sign, Antecubital pterygium OMIM:161200
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus ORPHA:542306
Warburg-Cinotti Syndrome
Symblepharon, Corneal neovascularization, Limbal stem cell deficiency, Decreased corneal thickness OMIM:618175
Alagille Syndrome
Keratoconus, Abnormal pupil morphology, Corneal dystrophy ORPHA:52
Lacrimoauriculodentodigital Syndrome
Corneal ulceration, Corneal neovascularization, Keratoconjunctivitis, Recurrent corneal erosions,... ORPHA:2363
Costello Syndrome
Keratoconus ORPHA:3071
Angelman Syndrome
Iris hypopigmentation, Keratoconus, Astigmatism ORPHA:72
Gapo Syndrome
Keratoconus ORPHA:2067
Arterial Tortuosity Syndrome
Keratoconus OMIM:208050
Arterial Tortuosity Syndrome
Keratoconus, Keratoglobus ORPHA:3342
Gapo Syndrome
Keratoconus OMIM:230740
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Keratoconus, Microcornea OMIM:225400
Hypermobile Ehlers-Danlos Syndrome
Keratoconjunctivitis sicca, Keratoconus ORPHA:285
Ehlers-Danlos Syndrome, Vascular Type
Keratoconus OMIM:130050
Vascular Ehlers-Danlos Syndrome
Keratoconus, Abnormal pupil morphology ORPHA:286

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 Ddx21

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 Ddx21.

No publications found that use IMPC mice or data for Ddx21.

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MGI Allele Allele Type Produced
Ddx21em1(IMPC)Bay Exon Deletion Mice
Ddx21tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Ddx21tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Ddx21tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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