Gene Summary

Name:
developmentally regulated GTP binding protein 1
Synonyms:
Nedd3

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
abnormal salivary gland morphology Drg1em1(IMPC)Tcp HET Early adult 0.00
preweaning lethality, incomplete penetrance Drg1em1(IMPC)Tcp HOM   Early adult 0.00
increased red blood cell distribution width Drg1em1(IMPC)Tcp HET Early adult 5.33×10-06
abnormal retinal vasculature morphology Drg1em1(IMPC)Tcp HET Early adult 5.02×10-05
abnormal retinal blood vessel morphology Drg1em1(IMPC)Tcp HET Early adult 3.42×10-05
abnormal skin morphology Drg1em1(IMPC)Tcp HET Early adult 0.00
decreased mean corpuscular volume Drg1em1(IMPC)Tcp HET Early adult 4.78×10-05
cataract Drg1em1(IMPC)Tcp HET   Early adult 3.51×10-05

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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

Images Slit Lamp

108 Images

Eye Morphology

Images Ophthalmoscopy

112 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

X-ray

XRay Images Skull Lateral Orientation

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

Gross Pathology and Tissue Collection

Images

10 Images

Human diseases caused by Drg1 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 Drg1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Chorioretinal coloboma, Cataract OMIM:274205
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Cryptorchidism, Macrothrombocytopenia, Anemia o... ORPHA:67044
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... ORPHA:766
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Macrocytic dy... OMIM:224120
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Anemi... OMIM:615631
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Photoreceptor layer loss on macular OCT, Anemia, Retinal pigment epithelial at... OMIM:616959
X-Linked Retinoschisis
Retinoschisis, Cataract ORPHA:792
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Stickler Syndrome Type 2
Cleft palate, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Cataract, ... ORPHA:90654
Kimura Disease
Abnormal salivary gland morphology, Eosinophilia ORPHA:482
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Acute myeloid leukemia, Anis... ORPHA:86841
Wagner Vitreoretinopathy
Optic atrophy, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, Retinal ... OMIM:143200
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cheilitis Glandularis
Thick lower lip vermilion, Abnormal salivary gland morphology ORPHA:1221
Retinitis Pigmentosa 84
Macular coloboma, Macular atrophy, Cataract, Rod-cone dystrophy OMIM:618220
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Abnormal anterior eye segment morphology, Macular edema, Macular degener... ORPHA:411527
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Choroidal neovascu... ORPHA:179
Oculocerebral Hypopigmentation Syndrome Of Preus
Widely spaced teeth, High, narrow palate, High palate, Microdontia, Hypochromic anemia, Cataract OMIM:257790
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Coats Disease
Aplasia/Hypoplasia of the iris, Abnormal retinal vascular morphology, Retinal detachment, Catarac... ORPHA:190
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Bardet-Biedl Syndrome 18
Retinal dystrophy, Cataract, Rod-cone dystrophy OMIM:615995
Van Der Woude Syndrome
Abnormal salivary gland morphology, Hypodontia, Cleft palate, Cleft upper lip, Lower lip pit, Lip... ORPHA:888
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal detachment, Posterior vitreous detachment, Cataract, Chorior... OMIM:616468
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Gingival bleeding, Anemia, Anisocytosis, Poikilocytosis, Abnor... ORPHA:98870
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Cataract OMIM:165300
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Retinal dystrophy, Cataract OMIM:610156
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... ORPHA:891
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Megaloblastic anemia, Mal... OMIM:261000
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Cone-Rod Dystrophy 16
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:614500
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Retinal Venous Beading
Neutropenia, Retinal infarction, Retinal neovascularization, Vitreous hemorrhage, Saccular conjun... OMIM:180080
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Erythroid hyperplasia, Anemia, Splenomegaly, Hepatosplenomegaly, Anisocytosis, Decre... OMIM:616860
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract OMIM:618660
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Retinal dystrophy, Iris coloboma, Retinal detachment, Ca... OMIM:212550
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Cata... OMIM:180104
Exudative Vitreoretinopathy 2, X-Linked
Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret... OMIM:305390
Vitreoretinal Degeneration, Snowflake Type
Retinal dots, Corneal guttata, Optically empty vitreous, Retinal detachment, Cataract, Snowflake ... OMIM:193230
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Anemia, Cataract OMIM:273680
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegaly, Increased m... OMIM:616689
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Cataract, Peripapillary atrophy, Macular degeneration OMIM:618195
Cataract 21, Multiple Types
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Macular hypoplasia, Retinal deta... OMIM:610202
Diamond-Blackfan Anemia 8
Macrocytic anemia, Thick upper lip vermilion, Neutropenia, Increased mean corpuscular volume OMIM:612563
Retinitis Pigmentosa 37
Cataract, Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Bilateral cleft lip and palate, Optic atrophy, Chorioretinal coloboma, Posterior embryotoxon, Iri... ORPHA:1473
Brooke-Spiegler Syndrome
Abnormality of the submandibular glands, Salivary gland neoplasm, Abnormality of the sublingual g... ORPHA:79493
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Anisocytosis, Poiki... OMIM:300908
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Macular atrophy, Optic disc pallor, Retinopathy, Cataract, Microcornea OMIM:616171
Morm Syndrome
Retinal dystrophy, Cataract, Retinal atrophy ORPHA:75858
Retinitis Pigmentosa 2
Pigmentary retinopathy, Cataract, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312600
Vitreoretinochoroidopathy
Microcornea, Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhage, ... OMIM:193220
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Vitreoretinopathy, Neovascular Inflammatory
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... OMIM:193235
Microphthalmia, Isolated 5
Foveoschisis, Drusen, Optic disc drusen, Bone spicule pigmentation of the retina, Rod-cone dystro... OMIM:611040
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Phakodonesis, Iris hypoperfusion, Retinal v... OMIM:177650
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Cataract, Lens subluxation OMIM:614292
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Variant Abeta2M Amyloidosis
Abnormal salivary gland morphology, Intestinal perforation, Abnormality of the tongue ORPHA:314652
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Vacuolated lymphocytes, Rod-cone dystrophy, Macular degeneration, Cataract OMIM:204200
Retinitis Pigmentosa 4
Cataract, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Trichomegaly
Cataract OMIM:190330
Ectopia Lentis Et Pupillae
Retinal detachment, Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Eales Disease
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... ORPHA:40923
Leber Congenital Amaurosis 2
Keratoconus, Cataract, Fundus atrophy, Pigmentary retinopathy OMIM:204100
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Developmental cataract, Cataract OMIM:613076
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Otodental Syndrome
Carious teeth, Lens coloboma, Pulp calcification, Retinal coloboma, Long philtrum, Odontoma, Abno... ORPHA:2791
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Retinal dystrophy, Choriore... OMIM:251270
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Hypochromia, Stomatocytosis, Hepatosplenomegaly, Anisocytosi... ORPHA:71275
Orotic Aciduria
Hypochromia, Anisocytosis, Poikilocytosis, Pyrimidine-responsive megaloblastic anemia, Folate-unr... OMIM:258900
Norrie Disease
Optic atrophy, Retinal fold, Shallow anterior chamber, Retinal dysplasia, Hypoplasia of the iris,... OMIM:310600
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Squamous cel... OMIM:618849
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract, Rod-cone dystrophy OMIM:619082
Cataract 9, Multiple Types
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
Stickler Syndrome, Type Ii
High, narrow palate, Cleft palate, Pierre-Robin sequence, Bifid uvula, Abnormal vitreous humor mo... OMIM:604841
Oslam Syndrome
Carious teeth, Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Leber Congenital Amaurosis 8
Choriocapillaris atrophy, Cataract, Keratoconus OMIM:613835
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cryptorchidism, Chorioretinal coloboma, Cataract ORPHA:2489
Dominant Beta-Thalassemia
Hypoparathyroidism, Hypochromic microcytic anemia, Persistence of hemoglobin F, Splenomegaly, Hyp... ORPHA:231226
Exudative Vitreoretinopathy 4
Tractional retinal detachment, Exudative vitreoretinopathy, Peripheral retinal avascularization, ... OMIM:601813
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Abnormality of the dentition, Cataract, Premature ovarian insufficiency ORPHA:2278
Familial Pseudohyperkalemia
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume ORPHA:90044
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Cataract, Retinal dysplasia OMIM:613154
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Oligodontia, Juvenile cataract, Supernumerary tooth, Abnorma... ORPHA:1264
Diamond-Blackfan Anemia 6
Macrocytic anemia, Cleft palate, Increased mean corpuscular volume, Cleft upper lip, Bifid uvula,... OMIM:612561
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Li... ORPHA:2334
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc coloboma ORPHA:35737
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Anisocytosis, Poikilocytosis, Chronic hemolytic anemia, Reticulocytosis, Decreased mean corpuscul... OMIM:618278
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Narrow mouth, Cataract, Retinal thinning, Asteroid hyalosis OMIM:132450
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Thick lower lip vermilion, Optic atrophy, Retinal fold, Long philtrum, Myopic astigmatism, Chorio... OMIM:152950
Igg4-Related Submandibular Gland Disease
Abnormal salivary gland morphology, Xerostomia, Abnormal pancreas morphology, Abnormality of the ... ORPHA:449432
Igg4-Related Dacryoadenitis And Sialadenitis
Keratoconjunctivitis sicca, Abnormality of the optic nerve, Abnormal salivary gland morphology, O... ORPHA:79078
Autosomal Recessive Stickler Syndrome
Cleft palate, Vitreoretinopathy, Retinal detachment, Cataract, Astigmatism ORPHA:250984
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Fundus atrophy, Pigmentary retinopathy OMIM:204000
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Cortical cataract, Retinal pigment ep... OMIM:618613
Isolated Aniridia
Aplasia/Hypoplasia of the macula, Cataract, Peters anomaly, Aniridia ORPHA:250923
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cleft upper lip, Cleft palate, Cataract OMIM:120433
Blau Syndrome
Abnormal salivary gland morphology, Abnormality of the optic nerve, Retrobulbar optic neuritis, X... ORPHA:90340
Kahrizi Syndrome
Thick lower lip vermilion, Cataract, Iris coloboma OMIM:612713
Al Amyloidosis
Abnormal salivary gland morphology, Macroglossia, Xerostomia, Anemia, Howell-Jolly bodies ORPHA:85443
Oxoglutaric Aciduria
Abnormal salivary gland morphology ORPHA:31
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Cataract, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal p... ORPHA:67043
Senior-Loken Syndrome
Retinal dystrophy, Abnormality of retinal pigmentation, Cataract, Premature ovarian insufficiency ORPHA:3156
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Lens subluxation, Microphakia, Retinal detachment, Cataract ORPHA:171844
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Thick vermilion border, Iris coloboma ORPHA:171860
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Cataract, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
16Q24.3 Microdeletion Syndrome
Smooth philtrum, High palate, Increased mean corpuscular volume, Wide mouth, Long philtrum, Optic... ORPHA:261250
Stickler Syndrome Type 1
Cleft palate, Long philtrum, Abnormal vitreous humor morphology, Retinal detachment, Cataract ORPHA:90653
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Abnormality of the optic disc, Cataract ORPHA:65
Aniridia-Intellectual Disability Syndrome
Aniridia, Optic nerve hypoplasia, Cataract, Ectopia lentis ORPHA:1068
Dwarfism With Stiff Joints And Ocular Abnormalities
Retinal detachment, Cataract OMIM:127200
Retinitis Pigmentosa
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Abnorma... ORPHA:791
Lacrimoauriculodentodigital Syndrome
Keratoconjunctivitis sicca, Carious teeth, Abnormal salivary gland morphology, Hypodontia, Lacrim... ORPHA:2363
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Anemia, Aplasia/Hypoplasia of the iris, Splenomegaly, Cornea... ORPHA:290
Nance-Horan Syndrome
Supernumerary tooth, Retinal detachment, Cataract, Abnormality of the dentition, Microcornea ORPHA:627
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Abnormal palate morphology, Aplasia/Hypoplasia of the lens, Anal atresia, Cataract, Cryptorchidism ORPHA:1381
Gyrate Atrophy Of Choroid And Retina
Chorioretinal degeneration, Subcapsular cataract, Cataract, Chorioretinal atrophy, Chorioretinal ... ORPHA:414
Oculofaciocardiodental Syndrome
Abnormal palate morphology, Cleft palate, Oligodontia, Ectopia lentis, Long philtrum, Solitary me... ORPHA:2712
Oculoauricular Syndrome
Iris cyst, Developmental cataract, Chorioretinal coloboma, Morning glory anomaly, Retinal colobom... OMIM:612109
Cataract 16, Multiple Types
Posterior polar cataract, Retinal dystrophy, Developmental cataract OMIM:613763
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract OMIM:216820
Srd5A3-Cdg
Optic atrophy, Optic disc hypoplasia, Rod-cone dystrophy, Microcytic anemia, Cataract, Decreased ... ORPHA:324737
Melioidosis
Abnormal parotid gland morphology, Abnormality of the spleen, Splenic abscess, Parotitis ORPHA:31202
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris ORPHA:1067
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Retinal dystrophy, Hypoplasia of the retina, Cataract OMIM:263100
Intermediate Uveitis
Vitreous floaters, Macular edema, Optic neuritis, Vitreous snowballs, Cystoid macular edema, Epir... ORPHA:279914
Achondrogenesis Type 2
Pierre-Robin sequence, Lens subluxation, Abnormal vitreous humor morphology, Retinal detachment, ... ORPHA:93296
Bardet-Biedl Syndrome 9
Retinal degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Cataract, Atte... OMIM:615986
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization, Cleft palate, Short philtrum OMIM:619074
Blackfan-Diamond Anemia
Thrombocytosis, Developmental cataract, Elevated red cell adenosine deaminase level, Neutropenia,... ORPHA:124
Congenital Erythropoietic Porphyria
Erythroid hyperplasia, Leukopenia, Splenomegaly, Anisocytosis, Erythrodontia, Poikilocytosis, Cor... ORPHA:79277
Insulin-Resistance Syndrome Type B
Abnormal salivary gland morphology, Leukopenia, Enlarged ovaries, Polycystic ovaries, Thrombocyto... ORPHA:2298
Cataract 15, Multiple Types
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract OMIM:615274
Enhanced S-Cone Syndrome
Vitreoretinopathy, Macular edema, Cataract, Pigmentary retinopathy, Retinoschisis OMIM:268100
Cataract 47
Microcornea, Cataract OMIM:612018
Microphthalmia With Brain And Digit Anomalies
High palate, Chorioretinal coloboma, Sclerocornea, Retinal dystrophy, Iris coloboma, Cataract, Cr... ORPHA:139471
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Peroxisome Biogenesis Disorder 9B
Cataract, Rod-cone dystrophy OMIM:614879
Sarcoidosis, Susceptibility To, 1
Abnormal salivary gland morphology, Optic neuropathy, Inflammation of the large intestine, Chorio... OMIM:181000
Igg4-Related Thyroid Disease
Goiter, Nodular goiter, Abnormality of the pituitary gland, Euthyroid goiter, Sialadenitis, Pancr... ORPHA:64744
Aniridia 1
Hypoplasia of the fovea, Corneal erosion, Ectopia lentis, Anterior subcapsular cataract, Hypoplas... OMIM:106210
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Retinal nonattachment, Shallow anterior chamber, Retinal fold, Persistent pupillary ... OMIM:221900
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Retinal fold, Tractional retinal detachment, Persistent pupillary membrane, Shallow ... ORPHA:91495
Anterior Segment Dysgenesis 7
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
Benign Schwannoma
Abnormal parotid gland morphology, Intestinal polyposis, Abnormal esophagus morphology ORPHA:252164
Igg4-Related Ophthalmic Disease
Abnormality of the optic nerve, Abnormality of the anterior pituitary, Enlarged lacrimal glands, ... ORPHA:449563
Peters Anomaly
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... ORPHA:708
Muir-Torre Syndrome
Adenoma sebaceum, Salivary gland neoplasm, Neoplasm of the stomach, Colon cancer ORPHA:587
Shwachman-Diamond Syndrome
Carious teeth, Neutropenia, Pancreatic hypoplasia, Leukemia, Delayed eruption of teeth, Steatorrh... ORPHA:811
Idiopathic Panuveitis
Conjunctival hyperemia, Vitreous floaters, Choroidal neovascularization, Vitreous snowballs, Cyst... ORPHA:280921
Oculocerebral Hypopigmentation Syndrome, Preus Type
High palate, Ocular albinism, Hypochromic anemia, Cataract, Iris hypopigmentation, Abnormality of... ORPHA:2720
Walker-Warburg Syndrome
Abnormality of the optic nerve, Optic atrophy, Cleft palate, Retinal dysplasia, Retinal dystrophy... ORPHA:899
Diamond-Blackfan Anemia 7
Macrocytic anemia, Cleft palate, Neutropenia, Increased mean corpuscular volume, Esophagitis OMIM:612562
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Corneal scarring, Spontaneous esophageal perforation, Anemia, Enamel hypoplasia, Esophageal stric... OMIM:226600
Methylcobalamin Deficiency Type Cble
Pancytopenia, Macrocytic anemia, Neutropenia, Increased mean corpuscular volume ORPHA:2169
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... OMIM:610256
Stromme Syndrome
Cleft palate, Duodenal atresia, Wide mouth, Sclerocornea, Optic nerve hypoplasia, Peters anomaly,... OMIM:243605
Congenital Sialidosis Type 2
Optic atrophy, Developmental cataract, Hypoplasia of the fovea, Cherry red spot of the macula, Gi... ORPHA:93400
Papillorenal Syndrome
Morning glory anomaly, Macular hyperpigmentation, Retinal coloboma, Optic disc coloboma, Macular ... OMIM:120330
Microphthalmia, Syndromic 5
Cleft palate, Retinal dystrophy, Optic nerve hypoplasia, Cataract, Ectopic posterior pituitary, C... OMIM:610125
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Normochromic anemia, Macular edema, Abnormal retinal vascular morphology, Reti... ORPHA:247691
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Blue irides, Carious teeth, Absence of Stensen duct, Cleft palate, Hypoplastic nipples, Microdont... OMIM:604292
Proteus-Like Syndrome
Limbal dermoid, Thymus hyperplasia, Open bite, Polycystic ovaries, Splenomegaly, Heterochromia ir... ORPHA:2969
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Blue irides, Carious teeth, Absence of Stensen duct, Cleft palate, Hypoplastic nipples, Microdont... OMIM:129900
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Dystonia, Juvenile-Onset
Cleft upper lip, Cleft palate, Cataract OMIM:607371
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Macroglossia, Hepatosplenomegaly, Corneal opacity, Cataract, Pancytopenia ORPHA:309288
Congenital Tufting Enteropathy
Villous atrophy, Corneal erosion, Malabsorption, Punctate keratitis, Optic disc coloboma, Abnorma... ORPHA:92050
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Increased mean corpuscular volume OMIM:277410
Treacher Collins Syndrome 1
Cleft palate, Wide mouth, Cleft soft palate, Abnormal parotid gland morphology, Narrow mouth, Cry... OMIM:154500
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Optic atrophy, Microdontia, Oligodontia, Conical tooth, Persistence of primary teeth, Enamel hypo... OMIM:618727
Incontinentia Pigmenti
Optic atrophy, Leukocytosis, Hypodontia, Hypoplastic nipples, Hypoplasia of the fovea, Retinal va... OMIM:308300
Proximal Myotonic Myopathy
Cataract ORPHA:606
Oculocerebral Hypopigmentation Syndrome, Cross Type
Abnormal palate morphology, Microdontia, Choroideremia, Ocular albinism, Anemia, Corneal opacity,... ORPHA:2719
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of retinal pigmentation, Smooth philtrum, Splenomegaly, Corneal opacit... ORPHA:585
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Xerostomia, Anemia, Malabsorption, Cataract, Glossitis, Hamartomatous polyposis, Protein-losing e... OMIM:175500
Lacrimoauriculodentodigital Syndrome
Carious teeth, Corneal perforation, Hypodontia, Lacrimal gland aplasia, Conical incisor, Aplasia ... OMIM:149730
Aniridia 2
Aniridia, Cataract OMIM:617141
Cataract 5, Multiple Types
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract OMIM:116800
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Asplenia, Cholelithiasis, Malabsorption, Enamel hypoplasia, Cataract, Prematu... OMIM:240300
Salivary Duct Calculi
Abnormality of the mouth, Parotitis OMIM:181010
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Septo-optic dysplasia, Iris coloboma, Anal atresia, Narrow mouth, Cataract, Crypto... ORPHA:3301
Oculo-Palato-Cerebral Syndrome
High, narrow palate, Cleft palate, Retinal detachment, Cataract, Remnants of the hyaloid vascular... ORPHA:2714
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Igg4-Related Kidney Disease
Sialadenitis, Eosinophilia, Abnormality of the anterior pituitary ORPHA:449395
Lathosterolosis
Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis, High palate, Long philtrum, ... OMIM:607330
Kikuchi-Fujimoto Disease
Neutropenia, Leukopenia, Anemia, Splenomegaly, Lymphocytosis, Enlargement of parotid gland, Oral ... ORPHA:50918
Sarcoidosis
Keratoconjunctivitis sicca, Leukopenia, Increased T cell count, Anemia, Parotitis, Enlargement of... ORPHA:797
Darier-White Disease
Enlargement of parotid gland OMIM:124200
Knobloch Syndrome
Pyloric stenosis, Ectopia lentis, Vitreoretinopathy, Macular degeneration, Abnormal vitreous humo... ORPHA:1571
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Iron deficiency anemia, Steatorrhea, Cataract, Band keratopathy, Keratoconjunctivitis OMIM:269200
Meckel Syndrome
Optic atrophy, Cleft palate, Pancreatic cysts, Asplenia, Sclerocornea, Aplasia/Hypoplasia of the ... ORPHA:564
Dyskeratosis Congenita, X-Linked
Carious teeth, Optic atrophy, Premature loss of teeth, Leukopenia, Anemia, Acute myeloid leukemia... OMIM:305000
Neurofibroma
Enlargement of parotid gland, Intestinal bleeding, Multiple intestinal neurofibromatosis ORPHA:252183
Tubulointerstitial Nephritis And Uveitis Syndrome
Reduced hematocrit, Abnormality of retinal pigmentation, Normocytic anemia, Choroidal neovascular... ORPHA:91500
Norrie Disease
Optic atrophy, Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Ectopia lentis, Sclerocorn... ORPHA:649
Eisenmenger Syndrome
Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia ORPHA:97214

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 Drg1

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 Drg1.

No publications found that use IMPC mice or data for Drg1.

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MGI Allele Allele Type Produced
Drg1tm36(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Drg1em1(IMPC)Tcp Exon Deletion Mice

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