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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 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 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

Download data as:  TSV  XLS

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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

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Eye Morphology

Images Ophthalmoscopy

112 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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Gross Pathology and Tissue Collection

Images

10 Images

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X-ray

XRay Images Skull 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 Whole Body Dorso Ventral

12 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

8 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
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Cryptorchidism, Anemia of inadequate production, Anisocytosis, Poikilocytosis... ORPHA:67044
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology ORPHA:482
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Rh-Null, Amorph Type
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis OMIM:617970
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A... ORPHA:86841
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... OMIM:300835
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... OMIM:224120
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hypochromia, Anemia, Decre... OMIM:616860
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Congenital Dyserythropoietic Anemia Type Iii
Gingival bleeding, Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytos... ORPHA:98870
Brooke-Spiegler Syndrome
Abnormality of the submandibular glands, Abnormality of the sublingual glands, Salivary gland neo... ORPHA:79493
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Anisocytosis, Hypochromia, Poikilocytosis, Pyrimidine-r... OMIM:258900
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos... ORPHA:71275
Variant Abeta2M Amyloidosis
Abnormal salivary gland morphology, Intestinal perforation ORPHA:314652
Retinitis Pigmentosa And Erythrocytic Microcytosis
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... OMIM:616959
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Cryptorchi... OMIM:301310
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Oxoglutaric Aciduria
Abnormal salivary gland morphology ORPHA:31
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Wide mouth, Anisocytosis OMIM:604273
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu... ORPHA:449432
Dominant Beta-Thalassemia
Abnormality of the dentition, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of ... ORPHA:231226
Al Amyloidosis
Howell-Jolly bodies, Xerostomia, Anemia, Macroglossia, Abnormal salivary gland morphology ORPHA:85443
Melioidosis
Abnormality of the spleen, Splenic abscess, Abnormal parotid gland morphology, Parotitis ORPHA:31202
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosis, Poikilocytosis, ... OMIM:618278
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Xerostomia, Abnormality of the submandibular glands, Enlargement of par... ORPHA:79078
Igg4-Related Thyroid Disease
Euthyroid goiter, Goiter, Sialadenitis, Pancreatic fibrosis, Nodular goiter, Abnormal pituitary g... ORPHA:64744
Benign Schwannoma
Abnormal esophagus morphology, Intestinal polyposis, Abnormal parotid gland morphology ORPHA:252164
Insulin-Resistance Syndrome Type B
Leukopenia, Polycystic ovaries, Enlarged polycystic ovaries, Enlarged ovaries, Thrombocytopenia, ... ORPHA:2298
Lacrimoauriculodentodigital Syndrome
Bifid uvula, Abnormality of the dentition, Carious teeth, Xerostomia, Abnormal dental enamel morp... ORPHA:2363
Treacher Collins Syndrome 1
Cleft soft palate, Narrow mouth, Cryptorchidism, Wide mouth, Abnormal parotid gland morphology, C... OMIM:154500
Congenital Erythropoietic Porphyria
Erythrodontia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Th... ORPHA:79277
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Carious teeth, Xerostomia, Selective tooth agenesis, Cleft upper lip, Decreased response to growt... OMIM:129900
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Enlarged lacrimal glands, Pancytopenia, Splenomegaly, Abnorm... OMIM:181000
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Anal stenosis, Carious teeth, Xerostomia, Selective tooth agenesis, Cleft upper lip, Decreased re... OMIM:604292
Darier-White Disease
Enlargement of parotid gland OMIM:124200
Blau Syndrome
Anemia, Abnormal salivary gland morphology, Xerostomia, Splenomegaly ORPHA:90340
Igg4-Related Ophthalmic Disease
Sialadenitis, Orchitis, Eosinophilia, Abnormality of the anterior pituitary, Enlarged lacrimal gl... ORPHA:449563
Igg4-Related Kidney Disease
Eosinophilia, Abnormality of the anterior pituitary, Sialadenitis ORPHA:449395
Lacrimoauriculodentodigital Syndrome 1
Carious teeth, Xerostomia, Lacrimal gland hypoplasia, Delayed eruption of primary teeth, Microdon... OMIM:149730
Kikuchi-Fujimoto Disease
Leukopenia, Enlargement of parotid gland, Splenomegaly, Oral ulcer, Lymphocytosis, Neutropenia, T... ORPHA:50918
Neurofibroma
Intestinal bleeding, Enlargement of parotid gland, Multiple intestinal neurofibromatosis ORPHA:252183
Lynch Syndrome
Pituitary adenoma, Pancreatic adenocarcinoma, Intestinal polyposis, Salivary gland neoplasm, Neop... ORPHA:144
Sarcoidosis
Parotitis, Leukopenia, Enlargement of parotid gland, Increased T cell count, Eosinophilia, Thromb... ORPHA:797

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.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorder. Genetics in medicine : official journal of the American College of Medical Genetics (May 2023) Drg1em1(IMPC)Tcp 37179472

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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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