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 retina blood vessel morphology Drg1em1(IMPC)Tcp HET Early adult 4.32×10-05
abnormal skin morphology Drg1em1(IMPC)Tcp HET Early adult 0.00
cataract Drg1em1(IMPC)Tcp HET   Early adult 4.91×10-05
abnormal salivary gland morphology Drg1em1(IMPC)Tcp HET Early adult 0.00
abnormal retina vasculature morphology Drg1em1(IMPC)Tcp HET Early adult 6.58×10-05
increased red blood cell distribution width Drg1em1(IMPC)Tcp HET Early adult 2.12×10-05
preweaning lethality, incomplete penetrance Drg1em1(IMPC)Tcp HOM   Early adult 0.00

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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.

Gross Pathology and Tissue Collection

Images

10 Images

Eye Morphology

Images Slit Lamp

108 Images

Eye Morphology

Images Ophthalmoscopy

112 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

X-ray

XRay Images Skull Lateral Orientation

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 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, Cataract, Chorioretinal coloboma OMIM:274205
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Stickler Syndrome Type 2
Corneal opacity, Cleft palate, Retinopathy, Retinal detachment, Cataract, Abnormal vitreous humor... ORPHA:90654
Retinitis Pigmentosa 84
Macular coloboma, Cataract, Rod-cone dystrophy, Macular atrophy OMIM:618220
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
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Photoreceptor layer loss on macular OCT, Anisocytosis, Retinal... OMIM:616959
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment, Cataract OMIM:147610
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Reticulocyto... OMIM:615631
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... OMIM:143200
Cheilitis Glandularis
Thick lower lip vermilion, Abnormal salivary gland morphology ORPHA:1221
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Coats Disease
Abnormal retinal vascular morphology, Abnormal macular morphology, Abnormal anterior chamber morp... ORPHA:190
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Cataract, Rod-cone... OMIM:613801
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... OMIM:616468
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
Van Der Woude Syndrome
Cleft upper lip, Hypodontia, Cleft palate, Lip pit, Abnormal salivary gland morphology, Lower lip... ORPHA:888
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology ORPHA:482
Bardet-Biedl Syndrome 18
Cataract, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Shallow anterior chamber, Peripheral retinal avascularization, Falci... OMIM:305390
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Cataract OMIM:165300
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Retinal dystrophy OMIM:610156
Exudative Vitreoretinopathy 1
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... OMIM:133780
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Acute myeloid ... ORPHA:86841
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... OMIM:614500
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Retinal detachment, Megalocornea, Astigmatism, Iridod... OMIM:309300
Oculocerebral Hypopigmentation Syndrome Of Preus
High palate, High, narrow palate, Hypochromic anemia, Microdontia, Widely spaced teeth, Cataract OMIM:257790
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Retinal detachment, Lens subluxation, Peripheral vitreoretinal degeneration OMIM:614292
Retinitis Pigmentosa 9
Rod-cone dystrophy, Macular edema, Cataract, Macular atrophy, Bone spicule pigmentation of the re... OMIM:180104
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Cataract, Cor... OMIM:193230
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Iris coloboma, Cataract, Macular atrophy, Chorioretinal co... OMIM:212550
Retinal Venous Beading
Saccular conjunctival dilatations, Vitreous hemorrhage, Retinal neovascularization, Neutropenia, ... OMIM:180080
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Peripapillary atrophy, Cataract, Macular degeneration OMIM:618195
Cataract 21, Multiple Types
Retinal detachment, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Iris coloboma,... OMIM:610202
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... OMIM:613673
Retinitis Pigmentosa 37
Cystoid macular degeneration, Cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:611131
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Splenomegaly, Anisocytosis, Schistocytosis, Hemolytic anemia, Po... OMIM:224120
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Retinal detachment, Posterior embryotoxon, Optic atrophy, Bilateral cleft lip an... ORPHA:1473
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Anisocytosis, Hepatosplenomegaly, A... OMIM:616860
Brooke-Spiegler Syndrome
Abnormality of the sublingual glands, Salivary gland neoplasm, Abnormality of the submandibular g... ORPHA:79493
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... OMIM:617319
Morm Syndrome
Cataract, Retinal atrophy, Retinal dystrophy ORPHA:75858
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anisocytosis, Poikilocytosis, Gingival bleeding, Anemia, Abnor... ORPHA:98870
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... OMIM:193220
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Leber Congenital Amaurosis 2
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... OMIM:204100
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Microcornea, Optic atrophy, Optic disc pallor, Cataract, Macular atrophy OMIM:616171
Trichomegaly
Cataract OMIM:190330
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract OMIM:618660
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:613731
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... OMIM:611040
Leber Congenital Amaurosis 6
Keratoconus, Attenuation of retinal blood vessels, Cataract OMIM:613826
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Variant Abeta2M Amyloidosis
Intestinal perforation, Abnormality of the tongue, Abnormal salivary gland morphology ORPHA:314652
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Leber Congenital Amaurosis 8
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... OMIM:613835
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... ORPHA:40923
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Cataract OMIM:273680
Otodental Syndrome
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Retinal coloboma, Abnormal... ORPHA:2791
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Ca... OMIM:251270
Aniridia 2
Lens subluxation, Optic atrophy, Iris coloboma, Cataract, Aniridia OMIM:617141
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract OMIM:604219
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Poikilocytosis, Fava bean-induced hemolyt... OMIM:300908
Aniridia-Intellectual Disability Syndrome
Optic nerve hypoplasia, Cataract, Ectopia lentis, Aniridia ORPHA:1068
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cryptorchidism, Cataract, Chorioretinal coloboma ORPHA:2489
Exudative Vitreoretinopathy 4
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... OMIM:601813
Stickler Syndrome, Type Ii
High, narrow palate, Cleft palate, Retinal detachment, Bifid uvula, Cataract, Abnormal vitreous h... OMIM:604841
Rh Deficiency Syndrome
Hypochromia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anemia, Hemolytic anemia... ORPHA:71275
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Optic disc coloboma ORPHA:35737
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Supernumerary tooth, Abnormality of the dentition, Oligodont... ORPHA:1264
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Retinopathy, Cataract OMIM:183800
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Poikilocytosis, Pyrimidine-r... OMIM:258900
Leber Congenital Amaurosis 1
Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc drusen, Fundus atrophy, ... OMIM:204000
Retinitis Pigmentosa 86
Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,... OMIM:618613
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Cataract, Retinal dysplasia OMIM:613154
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis, Wide mouth OMIM:604273
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Narrow mouth, Retinal thinning, Asteroid hyalosis OMIM:132450
Isolated Aniridia
Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula, Aniridia ORPHA:250923
Retinitis Pigmentosa 2
Rod-cone dystrophy, Pigmentary retinopathy, Fundus atrophy, Cataract, Chorioretinal degeneration,... OMIM:312600
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Retinal detachment, Cataract ORPHA:171844
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Myopic astigmatism, Retinal detachment, Long philtrum, Microcornea, Astigmatism,... OMIM:152950
Dominant Beta-Thalassemia
Hypoparathyroidism, Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis... ORPHA:231226
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Retinal coloboma, Cryptorchidism, Cataract, Rod-cone dystrophy OMIM:601794
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Cataract, Cleft palate OMIM:120433
Autosomal Recessive Stickler Syndrome
Cleft palate, Retinal detachment, Vitreoretinopathy, Astigmatism, Cataract ORPHA:250984
Igg4-Related Submandibular Gland Disease
Abnormal pancreas morphology, Sialadenitis, Eosinophilia, Xerostomia, Abnormal salivary gland mor... ORPHA:449432
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Kahrizi Syndrome
Iris coloboma, Cataract, Thick lower lip vermilion OMIM:612713
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Retinal coloboma, Cryptorchidism, Cataract, Rod-cone dystrophy ORPHA:363741
Igg4-Related Dacryoadenitis And Sialadenitis
Xerostomia, Abnormal salivary gland morphology, Abnormality of the submandibular glands, Enlarged... ORPHA:79078
Cataract 16, Multiple Types
Posterior polar cataract, Developmental cataract, Retinal dystrophy OMIM:613763
Oxoglutaric Aciduria
Abnormal salivary gland morphology ORPHA:31
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal detachment, Opacification of the ... OMIM:310600
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal posterior eye segment morphology, Abnormal corn... ORPHA:67043
Stickler Syndrome Type 1
Cleft palate, Retinal detachment, Long philtrum, Cataract, Abnormal vitreous humor morphology ORPHA:90653
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal optic disc morphology ORPHA:65
Cataract 1, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... OMIM:116200
Al Amyloidosis
Macroglossia, Xerostomia, Abnormal salivary gland morphology, Anemia, Howell-Jolly bodies ORPHA:85443
Retinitis Pigmentosa 56
Nuclear cataract, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopath... OMIM:613581
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract OMIM:216820
Dwarfism With Stiff Joints And Ocular Abnormalities
Retinal detachment, Cataract OMIM:127200
Blau Syndrome
Keratitis, Abnormal retinal vascular morphology, Splenomegaly, Retinopathy, Xerostomia, Abnormal ... ORPHA:90340
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Anal atresia, Aplasia/Hypoplasia of the lens, Cataract, Abnormal palate morphology, Cryptorchidism ORPHA:1381
Nance-Horan Syndrome
Supernumerary tooth, Abnormality of the dentition, Retinal detachment, Microcornea, Cataract ORPHA:627
Gyrate Atrophy Of Choroid And Retina
Subcapsular cataract, Chorioretinal hyperpigmentation, Abnormal macular morphology, Chorioretinal... ORPHA:414
Oculofaciocardiodental Syndrome
Tooth malposition, Cleft palate, Intestinal malrotation, Abnormality of the dentition, Oligodonti... ORPHA:2712
Polycystic Kidney, Cataract, And Congenital Blindness
Hypoplasia of the retina, Microcoria, Cataract, Retinal dystrophy OMIM:263100
Oculoauricular Syndrome
Microphakia, Rod-cone dystrophy, Short mandibular rami, Retinal coloboma, Morning glory anomaly, ... OMIM:612109
Lacrimoauriculodentodigital Syndrome
Corneal ulceration, Hypodontia, Corneal neovascularization, Abnormality of the dentition, Xerosto... ORPHA:2363
Cataract 15, Multiple Types
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract OMIM:615274
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract, Retinal atrophy OMIM:616722
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Intermediate Uveitis
Optic neuritis, Band keratopathy, Cystoid macular edema, Macular edema, Epiretinal membrane, Vitr... ORPHA:279914
Cataract 47
Cataract, Microcornea OMIM:612018
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane ORPHA:1067
Enhanced S-Cone Syndrome
Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Cataract, Retinoschisis OMIM:268100
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Leukocytosis, Anisocytosis, Hepatosplenomegaly, Hemolytic anem... OMIM:618278
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Short philtrum, Retinal neovascularization, Cleft palate OMIM:619074
Bardet-Biedl Syndrome 9
Retinal degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Astigmatism, Cata... OMIM:615986
Peroxisome Biogenesis Disorder 9B
Cataract, Rod-cone dystrophy OMIM:614879
Microphthalmia With Brain And Digit Anomalies
High palate, Microcornea, Retinal dystrophy, Iris coloboma, Cataract, Cryptorchidism, Sclerocorne... ORPHA:139471
Melioidosis
Splenic abscess, Abnormality of the spleen, Parotitis, Abnormal parotid gland morphology ORPHA:31202
Aniridia 1
Corneal neovascularization, Optic nerve hypoplasia, Ectopia pupillae, Chorioretinal hypopigmentat... OMIM:106210
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea OMIM:269400
Woolly Hair
Abnormal retinal morphology, Abnormal pupil morphology, Cataract ORPHA:170
Persistent Hyperplastic Primary Vitreous
Remnants of the hyaloid vascular system, Corneal opacity, Shallow anterior chamber, Buphthalmos, ... ORPHA:91495
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Igg4-Related Thyroid Disease
Abnormality of the pituitary gland, Sialadenitis, Euthyroid goiter, Pancreatic fibrosis, Nodular ... ORPHA:64744
Chromosome Xp11.3 Deletion Syndrome
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Posterior subca... OMIM:300578
Insulin-Resistance Syndrome Type B
Enlarged polycystic ovaries, Leukopenia, Abnormal salivary gland morphology, Enlarged ovaries, Po... ORPHA:2298
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Corneal opacity, Shallow anterior chamber, Buphthalmos, ... OMIM:221900
Retinitis Pigmentosa 74
Optic disc pallor, Posterior polar cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:616562
Benign Schwannoma
Intestinal polyposis, Abnormal esophagus morphology, Abnormal parotid gland morphology ORPHA:252164
Idiopathic Panuveitis
Cystoid macular edema, Epiretinal membrane, Vitreous floaters, Choroidal neovascularization, Cata... ORPHA:280921
Congenital Erythropoietic Porphyria
Corneal ulceration, Erythrodontia, Splenomegaly, Anisocytosis, Leukopenia, Keratoconjunctivitis, ... ORPHA:79277
Muir-Torre Syndrome
Adenoma sebaceum, Salivary gland neoplasm, Neoplasm of the stomach, Colon cancer ORPHA:587
Sarcoidosis, Susceptibility To, 1
Optic neuropathy, Splenomegaly, Inflammation of the large intestine, Chorioretinitis, Abnormal sa... OMIM:181000
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Wolfram Syndrome 1
Megaloblastic anemia, Testicular atrophy, Pigmentary retinopathy, Thrombocytopenia, Optic atrophy... OMIM:222300
Igg4-Related Ophthalmic Disease
Keratitis, Sialadenitis, Orchitis, Eosinophilia, Colon cancer, Enlarged lacrimal glands, Abnormal... ORPHA:449563
Microphthalmia, Syndromic 5
Cleft palate, Optic nerve hypoplasia, Microcornea, Retinal dystrophy, Ectopic posterior pituitary... OMIM:610125
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Temporal optic disc pallor, Cataract, Anisocoria OMIM:619649
Proximal Myotonic Myopathy
Cataract ORPHA:606
Stromme Syndrome
Wide mouth, Duodenal atresia, Cleft palate, Intestinal malrotation, Optic nerve hypoplasia, Acces... OMIM:243605
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Corneal scarring, Narrow mouth, Oral mucosal blisters, Abnormal esophagus morphology, Spontaneous... OMIM:226600
Congenital Tufting Enteropathy
Anal atresia, Malabsorption, Abnormal large intestinal mucosa morphology, Steatorrhea, Optic disc... ORPHA:92050
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Cleft upper lip, Anal atresia, Decreased response to growth hormone stimulation test, Cleft palat... OMIM:129900
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Cleft upper lip, Decreased response to growth hormone stimulation test, Cleft palate, Blue irides... OMIM:604292
Cataract 5, Multiple Types
Nuclear cataract, Zonular cataract, Anterior polar cataract, Lamellar cataract, Pulverulent cataract OMIM:116800
Treacher Collins Syndrome 1
Wide mouth, Narrow mouth, Cleft palate, Cryptorchidism, Abnormal parotid gland morphology, Cleft ... OMIM:154500
Proteus-Like Syndrome
Abnormal pupil morphology, Open bite, Splenomegaly, Retinal detachment, Abnormality of the parath... ORPHA:2969
Oculocerebral Hypopigmentation Syndrome, Preus Type
High palate, Ocular albinism, Hypochromic anemia, Abnormality of neutrophils, Iris hypopigmentati... ORPHA:2720
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Dental malocclusion, Persistence of primary teeth, Ectopia pupillae, Oligodontia, Microdontia, As... OMIM:618727
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Abnormal retinal vascular morphology, Macular edema, Normocytic anemia, Retinal neovascularizatio... ORPHA:247691
Lacrimoauriculodentodigital Syndrome
Corneal perforation, Aplasia of the parotid gland, Hypodontia, Absence of Stensen duct, Xerostomi... OMIM:149730
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rod-cone dystrophy, Optic atrophy, Optic disc pallor, Cataract, Bone spicule pigmentation of the ... OMIM:268315
Incontinentia Pigmenti
Keratitis, Hypodontia, Leukocytosis, Retinal vascular proliferation, Supernumerary nipple, Eosino... OMIM:308300
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, High, narrow palate, Cleft palate, Retinal detachment, C... ORPHA:2714
Pierson Syndrome
Remnants of the hyaloid vascular system, Retinal detachment, Uveal ectropion, Retinal hemorrhage,... OMIM:609049
Igg4-Related Kidney Disease
Abnormality of the anterior pituitary, Eosinophilia, Sialadenitis ORPHA:449395
Darier-White Disease
Enlargement of parotid gland OMIM:124200
Knobloch Syndrome
Macular degeneration, Retinal detachment, Vitreoretinopathy, Pyloric stenosis, Cataract, Abnormal... ORPHA:1571
Sarcoidosis
Eosinophilia, Leukopenia, Keratoconjunctivitis sicca, Hemolytic anemia, Abnormal conjunctiva morp... ORPHA:797
Kikuchi-Fujimoto Disease
Lymphocytosis, Splenomegaly, Leukopenia, Enlargement of parotid gland, Oral ulcer, Neutropenia, A... ORPHA:50918
Neurofibroma
Intestinal bleeding, Multiple intestinal neurofibromatosis, Enlargement of parotid gland ORPHA:252183
Salivary Duct Calculi
Parotitis OMIM:181010

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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