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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 2.08×10-05

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 fundus

15 Images

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Eye Morphology

VIP of left fundus

15 Images

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Eye Morphology

VIP of right eye

15 Images

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Eye Morphology

VIP of left eye

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
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
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 1
Keratoconus, Astigmatism OMIM:148300
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Corneal Dystrophy, Congenital Stromal
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy OMIM:610048
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 opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions OMIM:121820
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
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
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... OMIM:614170
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal dystrophy, Corneal guttata OMIM:610158
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... OMIM:613270
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal dystrophy, Corneal guttata OMIM:613268
Brittle Cornea Syndrome 1
Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness OMIM:229200
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Corneal Dystrophy, Thiel-Behnke Type
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy OMIM:602082
Leber Congenital Amaurosis 4
Keratoconus OMIM:604393
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
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
Leber Congenital Amaurosis 8
Keratoconus, Cataract OMIM:613835
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus OMIM:609438
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Retinitis Pigmentosa
Keratoconus, Cataract ORPHA:791
Brittle Cornea Syndrome
Corneal dystrophy, Corneal erosion, Corneal scarring, Keratoglobus, Decreased corneal thickness ORPHA:90354
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
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
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus ORPHA:542306
Nail-Patella Syndrome
Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign OMIM:161200
Alagille Syndrome
Keratoconus, Abnormal pupil morphology, Corneal dystrophy ORPHA:52
Warburg-Cinotti Syndrome
Corneal neovascularization, Limbal stem cell deficiency, Symblepharon, Decreased corneal thickness OMIM:618175
Lacrimoauriculodentodigital Syndrome
Increased corneal thickness, Keratoconjunctivitis, Keratoconjunctivitis sicca, Recurrent corneal ... ORPHA:2363
Costello Syndrome
Keratoconus ORPHA:3071
Angelman Syndrome
Keratoconus, Astigmatism, Iris hypopigmentation ORPHA:72
Gapo Syndrome
Keratoconus ORPHA:2067
Arterial Tortuosity Syndrome
Keratoconus, Astigmatism OMIM:208050
Gapo Syndrome
Keratoconus, Shallow anterior chamber, Megalocornea OMIM:230740
Arterial Tortuosity Syndrome
Keratoconus, Keratoglobus ORPHA:3342
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Microcornea, Keratoconus OMIM:225400
Hypermobile Ehlers-Danlos Syndrome
Keratoconus, Keratoconjunctivitis sicca 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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