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Gene: Drg1 MGI:1343297

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Gene Summary

Name:
developmentally regulated GTP binding protein 1
Synonyms:
Nedd3

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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
abnormal skin morphology Drg1em1(IMPC)Tcp HET Early adult 0.00
preweaning lethality, incomplete penetrance Drg1em1(IMPC)Tcp HOM   Early adult 0.00
abnormal retina blood vessel morphology Drg1em1(IMPC)Tcp HET Early adult 5.57×10-05
abnormal retina vasculature morphology Drg1em1(IMPC)Tcp HET Early adult 7.30×10-05
abnormal salivary gland morphology Drg1em1(IMPC)Tcp HET Early adult 0.00
increased red blood cell distribution width Drg1em1(IMPC)Tcp HET Early adult 2.12×10-05
cataract Drg1em1(IMPC)Tcp HET   Early adult 5.51×10-05

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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.

Eye Morphology

Images Ophthalmoscopy

112 Images

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Gross Pathology and Tissue Collection

Images

10 Images

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Eye Morphology

Images Slit Lamp

108 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

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X-ray

XRay Images Skull Lateral Orientation

12 Images

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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
Cataract, Chorioretinal coloboma, Cryptorchidism OMIM:274205
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis OMIM:603529
X-Linked Retinoschisis
Retinoschisis, Cataract ORPHA:792
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Poikilocytosis, Anisocytosis, Cryptorchidism, Hypochromic anemia, Macrothrombocytopenia, Anemia o... ORPHA:67044
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... ORPHA:766
Stickler Syndrome Type 2
Retinopathy, Cataract, Corneal opacity, Retinal detachment, Cleft palate, Abnormal vitreous humor... ORPHA:90654
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Retinitis Pigmentosa And Erythrocytic Microcytosis
Retinal pigment epithelial atrophy, Anemia, Retinal atrophy, Elliptocytosis, Epiretinal membrane,... OMIM:616959
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Anemia of inadequat... OMIM:615631
Cheilitis Glandularis
Thick lower lip vermilion, Abnormal salivary gland morphology ORPHA:1221
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... OMIM:143200
Retinitis Pigmentosa 40
Cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blo... OMIM:613801
Central Retinal Vein Occlusion
Abnormal anterior eye segment morphology, Macular edema, Retinal vascular tortuosity, Macular deg... ORPHA:411527
Coats Disease
Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Retinal detachment, Abnorm... ORPHA:190
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Van Der Woude Syndrome
Cleft upper lip, Lip pit, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Cataract, Chorioretinal atrophy, Reti... OMIM:616468
Birdshot Chorioretinopathy
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... ORPHA:179
Kimura Disease
Abnormal salivary gland morphology, Eosinophilia ORPHA:482
Bardet-Biedl Syndrome 18
Retinal dystrophy, Cataract, Rod-cone dystrophy OMIM:615995
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy OMIM:165300
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Falciform retinal fold, Retinal ... OMIM:305390
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Retinal exudate,... OMIM:133780
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis OMIM:206200
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... ORPHA:86841
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Retinal pigment epithelial atrophy, Dental malocclusion, Rod-cone dystrophy, Widely spaced teeth,... OMIM:616108
Retinitis Pigmentosa 84
Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:618220
Familial Exudative Vitreoretinopathy
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... ORPHA:891
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... OMIM:614500
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... ORPHA:3203
Corneal Dystrophy, Groenouw Type I
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy OMIM:121900
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lattice retinal degeneration, Peripheral vitreoretinal degeneration, Vitreous floaters, Lens subl... OMIM:614292
Megalocornea
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Retinitis Pigmentosa 9
Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the retina, Cata... OMIM:180104
Vitreoretinal Degeneration, Snowflake Type
Retinal dots, Corneal guttata, Snowflake vitreoretinal degeneration, Cataract, Optically empty vi... OMIM:193230
Cataract 42
Cataract, Developmental cataract OMIM:115900
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Cataract, Iris coloboma, Chorioretinal coloboma, Cleft palate OMIM:120433
Retinitis Pigmentosa 4
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:613731
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... OMIM:613673
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythropoietic anemia, Po... OMIM:224120
Vitreoretinochoroidopathy
Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Pulverulent c... OMIM:193220
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi... OMIM:616860
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Poikilocytosis, Anisocytosis, Macrocytic anemia, Thrombocytopenia, Neutropenia, A... OMIM:300835
Retinitis Pigmentosa 13
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... OMIM:600059
Exfoliation Syndrome
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... OMIM:177650
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Optic atrophy, Cataract, Iris coloboma, Corneal opacity, Chorioretinal col... ORPHA:1473
Brooke-Spiegler Syndrome
Abnormality of the submandibular glands, Abnormality of the sublingual glands, Salivary gland neo... ORPHA:79493
Stickler Syndrome, Type V
Retinal detachment, Cataract, Pierre-Robin sequence, Vitreoretinopathy OMIM:614284
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Microphthalmia, Isolated 5
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... OMIM:611040
Leber Congenital Amaurosis 2
Optic disc pallor, Attenuation of retinal blood vessels, Cataract, Fundus atrophy, Keratoconus, P... OMIM:204100
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o... OMIM:617319
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Poikilocytosis, Abnormal erythrocyte morphology, Anisocytosis, Gingival bleeding, Increas... ORPHA:98870
Cataract 21, Multiple Types
Cortical pulverulent cataract, Macular hypoplasia, Cerulean cataract, Microcornea, Iris coloboma,... OMIM:610202
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... OMIM:193235
Cataract-Microcornea Syndrome
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy ORPHA:1377
Trichomegaly
Cataract OMIM:190330
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia OMIM:618660
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Leber Congenital Amaurosis 6
Cataract, Keratoconus, Attenuation of retinal blood vessels OMIM:613826
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Rod-cone dystrophy, Microcornea OMIM:619082
Leber Congenital Amaurosis 8
Choriocapillaris atrophy, Cataract, Chorioretinal atrophy, Keratoconus, Macular coloboma, Pigment... OMIM:613835
Variant Abeta2M Amyloidosis
Intestinal perforation, Abnormality of the tongue, Abnormal salivary gland morphology ORPHA:314652
Ectopia Lentis Et Pupillae
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Retinal detachment, Pe... OMIM:225200
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Otodental Syndrome
Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul... ORPHA:2791
Eales Disease
Iris neovascularization, Vitreous hemorrhage, Macular edema, Vitreous haze, Vitritis, Tractional ... ORPHA:40923
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Retinal dystrophy, Abnormality of retinal pigmentation, Cataract, Chorioretinal dys... OMIM:251270
Aniridia 2
Optic atrophy, Lens subluxation, Cataract, Iris coloboma, Aniridia OMIM:617141
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Iris coloboma, Progressive cataract OMIM:604219
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anisocytosis, ... OMIM:300908
Exudative Vitreoretinopathy 4
Exudative vitreoretinopathy, Vitreous hemorrhage, Tractional retinal detachment, Posterior vitreo... OMIM:601813
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Aniridia, Ectopia lentis ORPHA:1068
Stickler Syndrome, Type Ii
Pierre-Robin sequence, Bifid uvula, Cataract, Retinal detachment, Cleft palate, Abnormal vitreous... OMIM:604841
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Chorioretinal coloboma, Cryptorchidism ORPHA:2489
Rh Deficiency Syndrome
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Anisocytosis, Macrocytic a... ORPHA:71275
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Morm Syndrome
Retinal dystrophy, Cataract, Retinal atrophy ORPHA:75858
Leber Congenital Amaurosis 1
Optic disc drusen, Attenuation of retinal blood vessels, Cataract, Fundus atrophy, Keratoconus, P... OMIM:204000
Tricho-Retino-Dento-Digital Syndrome
Oligodontia, Supernumerary tooth, Abnormality of retinal pigmentation, Juvenile cataract, Abnorma... ORPHA:1264
Retinitis Pigmentosa 2
Rod-cone dystrophy, Cataract, Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy,... OMIM:312600
Orotic Aciduria
Pyrimidine-responsive megaloblastic anemia, Poikilocytosis, Anisocytosis, Folate-unresponsive meg... OMIM:258900
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... OMIM:618613
Autosomal Dominant Keratitis
Macular hypoplasia, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neov... ORPHA:2334
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis, Wide mouth OMIM:604273
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Corneal scarring, Retinal dystrophy, Macular atrophy, Buphthalmos, Cataract, Iris coloboma, Chori... OMIM:212550
Isolated Aniridia
Cataract, Peters anomaly, Aplasia/Hypoplasia of the macula, Aniridia ORPHA:250923
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Narrow mouth, Retinal thinning, Asteroid hyalosis OMIM:132450
Dominant Beta-Thalassemia
Hypersplenism, Reduced hemoglobin A, Hypopituitarism, Decreased mean corpuscular hemoglobin conce... ORPHA:231226
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Retinal dystrophy, Cataract OMIM:610156
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Lens subluxation, Cataract, Retinal detachment, Microphakia ORPHA:171844
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Rod-cone dystrophy, Cryptorchidism, Retinal coloboma OMIM:601794
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal fold, Long philtrum, Optic atrophy, Deep philtrum, Thick lower lip vermilion, Microcornea... OMIM:152950
Autosomal Recessive Stickler Syndrome
Vitreoretinopathy, Astigmatism, Cataract, Retinal detachment, Cleft palate ORPHA:250984
Igg4-Related Submandibular Gland Disease
Sialadenitis, Abnormality of the submandibular glands, Abnormal salivary gland morphology, Xerost... ORPHA:449432
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Rod-cone dystrophy, Cryptorchidism, Retinal coloboma ORPHA:363741
Igg4-Related Dacryoadenitis And Sialadenitis
Optic nerve compression, Nodular goiter, Keratoconjunctivitis sicca, Abnormality of the submandib... ORPHA:79078
Oxoglutaric Aciduria
Abnormal salivary gland morphology ORPHA:31
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:613581
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Stickler Syndrome Type 1
Long philtrum, Cataract, Retinal detachment, Cleft palate, Abnormal vitreous humor morphology ORPHA:90653
Norrie Disease
Retinal fold, Optic atrophy, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior ch... OMIM:310600
Leber Congenital Amaurosis
Cataract, Keratoconus, Abnormal optic disc morphology, Abnormality of retinal pigmentation ORPHA:65
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... ORPHA:67043
Al Amyloidosis
Anemia, Howell-Jolly bodies, Macroglossia, Abnormal salivary gland morphology, Xerostomia ORPHA:85443
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Cataract, Iris coloboma, Optic disc coloboma, Retinal coloboma OMIM:216820
Blau Syndrome
Anemia, Retinopathy, Abnormal choroid morphology, Cataract, Retrobulbar optic neuritis, Abnormal ... ORPHA:90340
Gyrate Atrophy Of Choroid And Retina
Abnormal macular morphology, Chorioretinal hyperpigmentation, Cataract, Chorioretinal atrophy, Ch... ORPHA:414
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Anal atresia, Abnormal palate morphology, Cataract, Cryptorchidism, Aplasia/Hypoplasia of the lens ORPHA:1381
Nance-Horan Syndrome
Supernumerary tooth, Microcornea, Cataract, Retinal detachment, Abnormality of the dentition ORPHA:627
Oculofaciocardiodental Syndrome
Tooth malposition, Long philtrum, Delayed eruption of teeth, Oligodontia, Submucous cleft hard pa... ORPHA:2712
Oculoauricular Syndrome
Rod-cone dystrophy, Morning glory anomaly, Posterior embryotoxon, Cone/cone-rod dystrophy, Poster... OMIM:612109
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy, Developmental cataract OMIM:616722
Lacrimoauriculodentodigital Syndrome
Enamel hypoplasia, Keratoconjunctivitis, Abnormality of the dentition, Microdontia, Limbal stem c... ORPHA:2363
Intermediate Uveitis
Macular edema, Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Epi... ORPHA:279914
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... OMIM:269400
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Cataract 47
Cataract, Microcornea OMIM:612018
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Nuclear cataract, Zonular cataract, Developmental cataract OMIM:600881
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Enhanced S-Cone Syndrome
Macular edema, Vitreoretinopathy, Retinoschisis, Cataract, Pigmentary retinopathy OMIM:268100
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Elliptocytosis, Reticulocytosis, Hepatosplenomegaly, Poikilocytosis, Anisocytos... OMIM:618278
Microphthalmia With Brain And Digit Anomalies
High palate, Retinal dystrophy, Microcornea, Iris coloboma, Cataract, Chorioretinal coloboma, Cry... ORPHA:139471
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization, Cleft palate, Short philtrum OMIM:619074
Bardet-Biedl Syndrome 9
Rod-cone dystrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:615986
Aniridia 1
Corneal erosion, Hypoplasia of the iris, Retinal vascular tortuosity, Corneal neovascularization,... OMIM:106210
Peroxisome Biogenesis Disorder 9B
Cataract, Rod-cone dystrophy OMIM:614879
Melioidosis
Abnormality of the spleen, Parotitis, Splenic abscess, Abnormal parotid gland morphology ORPHA:31202
Chromosome Xp11.3 Deletion Syndrome
Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels, Posterior subcapsular ca... OMIM:300578
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... ORPHA:708
Persistent Hyperplastic Primary Vitreous
Retinal fold, Tractional retinal detachment, Leukocoria, Macular hypoplasia, Hyaloid vascular rem... ORPHA:91495
Cataract 16, Multiple Types
Retinal dystrophy, Lenticonus, Posterior polar cataract, Developmental cataract OMIM:613763
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Sialadenitis, Euthyroid goiter, Abnormality of the pituitary... ORPHA:64744
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal fold, Leukocoria, Posterior synechiae of the anterior chamber, Microcornea, Buphthalmos, ... OMIM:221900
Idiopathic Panuveitis
Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Choroidal neovascu... ORPHA:280921
Anterior Segment Dysgenesis 2
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... OMIM:610256
Insulin-Resistance Syndrome Type B
Leukopenia, Enlarged polycystic ovaries, Polycystic ovaries, Abnormal salivary gland morphology, ... ORPHA:2298
Congenital Erythropoietic Porphyria
Leukopenia, Hemolytic anemia, Keratoconjunctivitis, Erythroid hyperplasia, Reticulocytosis, Poiki... ORPHA:79277
Wolfram Syndrome 1
Megaloblastic anemia, Optic atrophy, Sideroblastic anemia, Testicular atrophy, Cataract, Thromboc... OMIM:222300
Muir-Torre Syndrome
Colon cancer, Neoplasm of the stomach, Salivary gland neoplasm, Adenoma sebaceum ORPHA:587
Sarcoidosis, Susceptibility To, 1
Chorioretinitis, Pancytopenia, Inflammation of the large intestine, Abnormal salivary gland morph... OMIM:181000
Igg4-Related Ophthalmic Disease
Abnormality of the anterior pituitary, Sialadenitis, Enlarged lacrimal glands, Colon cancer, Eosi... ORPHA:449563
Microphthalmia, Syndromic 5
Retinal dystrophy, Optic nerve hypoplasia, Ectopic posterior pituitary, Microcornea, Cataract, Cr... OMIM:610125
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract, Temporal optic disc pallor, Retinal pigment epithelial mottling OMIM:619649
Cataract 5, Multiple Types
Lamellar cataract, Zonular cataract, Pulverulent cataract, Anterior polar cataract, Nuclear cataract OMIM:116800
Proximal Myotonic Myopathy
Cataract ORPHA:606
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Conjunctivitis, Enamel hypoplasia, Anemia, Esophageal stricture, Corneal scarring, Cataract, Narr... OMIM:226600
Stromme Syndrome
Jejunal atresia, Wide mouth, Retinal vascular tortuosity, Microcornea, Optic nerve hypoplasia, In... OMIM:243605
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Cleft upper lip, Decreased response to growth hormone stimulation test, Selective tooth agenesis,... OMIM:129900
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Cleft upper lip, Decreased response to growth hormone stimulation test, Selective tooth agenesis,... OMIM:604292
Congenital Tufting Enteropathy
Corneal erosion, Abnormal large intestinal mucosa morphology, Villous atrophy, Malabsorption, Pun... ORPHA:92050
Proteus-Like Syndrome
Abnormal pupil morphology, Splenomegaly, Limbal dermoid, Cataract, Heterochromia iridis, Polycyst... ORPHA:2969
Treacher Collins Syndrome 1
Cleft soft palate, Wide mouth, Abnormal parotid gland morphology, Narrow mouth, Cryptorchidism, C... OMIM:154500
Oculocerebral Hypopigmentation Syndrome, Preus Type
High palate, Ocular albinism, Iris hypopigmentation, Abnormality of neutrophils, Cataract, Hypoch... ORPHA:2720
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Conical tooth, Dental malocclusion, Enamel hypoplasia, Optic atrophy, Microdontia, Oligodontia, A... OMIM:618727
Cataract 20, Multiple Types
Cortical cataract, Sutural cataract, Lamellar cataract, Membranous cataract OMIM:116100
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Macular edema, Normocytic anemia, Retinal cotton wool spot, Retinal neovascularization, Normochro... ORPHA:247691
Incontinentia Pigmenti
Conical tooth, Retinal hemorrhage, Retinal vascular proliferation, Optic atrophy, Delayed eruptio... OMIM:308300
Lacrimoauriculodentodigital Syndrome 1
Conjunctivitis, Enamel hypoplasia, Delayed eruption of primary teeth, Microdontia, Limbal stem ce... OMIM:149730
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Cataract, Optic disc ... OMIM:268315
Benign Schwannoma
Abnormal esophagus morphology, Intestinal polyposis, Abnormal parotid gland morphology ORPHA:252164
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Oculo-Palato-Cerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system, Cataract, Retinal detachment, Cleft palate, ... ORPHA:2714
Pierson Syndrome
Retinal hemorrhage, Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Macular hypoplasi... OMIM:609049
Darier-White Disease
Enlargement of parotid gland OMIM:124200
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Dental malocclusion, Phakodonesis, High palate, Anterior synechiae of the anterior chamber, Bifid... OMIM:601552
Knobloch Syndrome
Macular degeneration, Pyloric stenosis, Vitreoretinopathy, Ectopia lentis, Cataract, Retinal deta... ORPHA:1571
Sarcoidosis
Leukopenia, Abnormal conjunctiva morphology, Anemia, Hemolytic anemia, Keratoconjunctivitis sicca... ORPHA:797
Kikuchi-Fujimoto Disease
Leukopenia, Oral ulcer, Anemia, Neutropenia, Lymphocytosis, Thrombocytopenia, Enlargement of paro... ORPHA:50918
Igg4-Related Kidney Disease
Abnormality of the anterior pituitary, Eosinophilia, Sialadenitis ORPHA:449395
Neurofibroma
Multiple intestinal neurofibromatosis, Intestinal bleeding, Enlargement of parotid gland ORPHA:252183

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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