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Gene: Ddx21 MGI:1860494

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Gene Summary

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

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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
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
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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.

Eye Morphology

VIP of right eye

15 Images

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Eye Morphology

VIP of left fundus

15 Images

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Eye Morphology

VIP of left eye

15 Images

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Eye Morphology

VIP of right fundus

15 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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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, Lisch Epithelial
Corneal dystrophy OMIM:300778
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Keratoconus 1
Astigmatism, Keratoconus OMIM:148300
Keratoconus 9
Decreased corneal thickness, Keratoconus OMIM:617928
Corneal Endothelial Dystrophy
Increased corneal thickness, Corneal dystrophy, Abnormal Descemet membrane morphology, Opacificat... OMIM:217700
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Dermoids Of Cornea
Corneal opacity OMIM:304730
Corneal Dystrophy, Endothelial, X-Linked
Corneal dystrophy, Corneal opacity, Band keratopathy OMIM:300779
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Band-shaped corneal dystrophy, Corneal erosion, Corneal dystrophy OMIM:610048
Megalocornea
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Corneal Dystrophy, Epithelial Basement Membrane
Corneal dystrophy, Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy OMIM:121820
Corneal Dystrophy, Lattice Type I
Recurrent corneal erosions, Lattice corneal dystrophy OMIM:122200
Pupillary Membrane, Persistence Of
Megalocornea, Persistent pupillary membrane, Developmental cataract OMIM:178900
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Corneal opacity, Decreased corneal thickness, Flat cornea, Sclerocornea OMIM:217300
Corneal Dystrophy, Groenouw Type I
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy OMIM:121900
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Decreased corneal ... ORPHA:98969
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Abnormal Descemet membrane morphology, Corneal stromal edema, Increased co... ORPHA:293603
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Descemet Membrane Folds, Corneal guttata, Corneal stromal edema, Corneal dy... OMIM:136800
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnorma... OMIM:180550
Edict Syndrome
Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract, Keratoconus OMIM:614303
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Corneal opacity, Ectopia lentis OMIM:613086
Cataract-Microcornea Syndrome
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy ORPHA:1377
Brittle Cornea Syndrome 2
Keratoglobus, Megalocornea, Decreased corneal thickness, Corneal perforation, Flat cornea, Kerato... OMIM:614170
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal guttata, Corneal dystrophy OMIM:610158
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Corneal stromal edema, Abnormal Descemet membrane morphology, Keratitis, Corneal... OMIM:613270
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal opacity, Corneal guttata, Corneal stromal edema OMIM:613267
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal dystrophy, Corneal guttata OMIM:613268
Cataract 1, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Microcornea OMIM:116200
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy OMIM:602082
Cataract 47
Cataract, Microcornea OMIM:612018
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal dystrophy, Corneal guttata OMIM:609141
Brittle Cornea Syndrome 1
Decreased corneal thickness, Keratoconus, Keratoglobus, Abnormal cornea morphology OMIM:229200
Lattice Corneal Dystrophy Type I
Corneal scarring, Central opacification of the cornea, Corneal stromal edema, Lattice corneal dys... ORPHA:98964
Anterior Segment Dysgenesis 6
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... OMIM:617315
Leber Congenital Amaurosis 4
Keratoconus OMIM:604393
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Posterior polar cataract, Microcornea, Peters anomaly, Opacif... OMIM:107250
Dermatitis, Atopic
Conjunctivitis, Cataract, Keratoconus OMIM:603165
Leber Congenital Amaurosis 2
Cataract, Keratoconus OMIM:204100
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... OMIM:269400
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity OMIM:244600
Leber Congenital Amaurosis
Cataract, Keratoconus ORPHA:65
Leber Congenital Amaurosis 1
Cataract, Keratoconus OMIM:204000
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... ORPHA:67043
Leber Congenital Amaurosis 8
Cataract, Keratoconus OMIM:613835
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus OMIM:609438
Corneal Dystrophy, Posterior Polymorphous, 1
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... OMIM:122000
Brittle Cornea Syndrome
Keratoglobus, Corneal erosion, Corneal scarring, Decreased corneal thickness, Corneal dystrophy ORPHA:90354
Retinitis Pigmentosa
Cataract, Keratoconus ORPHA:791
Arthrogryposis, Distal, Type 5
Astigmatism, Keratoglobus, Keratoconus 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
Conjunctivitis, Keratoconus OMIM:242150
Nail-Patella Syndrome
Lester's sign, Microcornea, Antecubital pterygium, Cataract, Keratoconus, Microphakia OMIM:161200
Warburg-Cinotti Syndrome
Decreased corneal thickness, Symblepharon, Limbal stem cell deficiency, Corneal neovascularization OMIM:618175
Alagille Syndrome
Abnormal pupil morphology, Corneal dystrophy, Keratoconus ORPHA:52
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus ORPHA:542306
Lacrimoauriculodentodigital Syndrome
Keratoconjunctivitis, Limbal stem cell deficiency, Keratoconjunctivitis sicca, Corneal neovascula... ORPHA:2363
Costello Syndrome
Keratoconus ORPHA:3071
Angelman Syndrome
Iris hypopigmentation, Keratoconus, Astigmatism ORPHA:72
Gapo Syndrome
Keratoconus ORPHA:2067
Arterial Tortuosity Syndrome
Astigmatism, Keratoconus OMIM:208050
Gapo Syndrome
Keratoconus, Shallow anterior chamber, Megalocornea OMIM:230740
Arterial Tortuosity Syndrome
Keratoglobus, Keratoconus ORPHA:3342
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Keratoconus, Microcornea OMIM:225400
Hypermobile Ehlers-Danlos Syndrome
Keratoconus, Keratoconjunctivitis sicca ORPHA:285
Ehlers-Danlos Syndrome, Vascular Type
Keratoconus OMIM:130050
Vascular Ehlers-Danlos Syndrome
Abnormal pupil morphology, Keratoconus 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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