Gene Summary

Name:
developmentally regulated GTP binding protein 1
Synonyms:
Nedd3

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
abnormal skin 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

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Select physiological systems to view:
Viewing: all phenotypes
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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.

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

Eye Morphology

Images Ophthalmoscopy

112 Images

Eye Morphology

Images Slit Lamp

108 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

MicroCT E18.5

Embryo reconstruction

8 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
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Cryptorchid... ORPHA:67044
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip... ORPHA:888
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Anisocytosis, Hypochromic microcytic anemia OMIM:206200
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... 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
Anemia, Anemia of inadequate production, Reticulocytosis, Poikilocytosis, Anisocytosis, Splenomeg... OMIM:615631
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v... ORPHA:3203
Rh-Null, Amorph Type
Stomatocytosis, Anisocytosis, Hemolytic anemia, Reticulocytosis OMIM:617970
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Poikilocytosis, Elliptocytosis, Anisocytosis, Thrombocytopenia, Abnormal retic... OMIM:300835
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Hypochromia, Anisocytosis, Hepatosplenomegaly, Splenomegaly, Decreased mean corpuscular v... OMIM:616860
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, Reticulocytosis... OMIM:224120
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Anemia of inadequate production, Persistence of hemoglobin F, Reticul... OMIM:613673
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased mean corpuscular volume, Gingival bleeding, Poikilocytosis, Anisocytosis, Abnor... 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
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Anisocytosis, ... OMIM:300908
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... OMIM:258900
Rh Deficiency Syndrome
Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatosplenomegaly,... ORPHA:71275
Variant Abeta2M Amyloidosis
Abnormal salivary gland morphology, Intestinal perforation ORPHA:314652
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Anemia, Hypochromic microcytic anemia, Howell-Jolly bodies, Poikilocytosis, Sideroblastic anemia,... 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
Anisocytosis, Wide mouth OMIM:604273
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal salivary gland morphology, Abnormal pancreas morphology, Siala... ORPHA:449432
Dominant Beta-Thalassemia
Hypoparathyroidism, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentr... ORPHA:231226
Al Amyloidosis
Abnormal salivary gland morphology, Anemia, Howell-Jolly bodies, Macroglossia, Xerostomia ORPHA:85443
Melioidosis
Parotitis, Splenic abscess, Abnormality of the spleen, Abnormal parotid gland morphology ORPHA:31202
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Elliptocytosis, Anisocyt... OMIM:618278
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Abnormal salivary gland morphology, Abnormality of the submandibular gl... ORPHA:79078
Igg4-Related Thyroid Disease
Euthyroid goiter, Sialadenitis, Abnormal pituitary gland morphology, Nodular goiter, Goiter, Panc... ORPHA:64744
Benign Schwannoma
Abnormal parotid gland morphology, Intestinal polyposis, Abnormal esophagus morphology ORPHA:252164
Insulin-Resistance Syndrome Type B
Abnormal salivary gland morphology, Enlarged polycystic ovaries, Leukopenia, Thrombocytopenia, En... ORPHA:2298
Lacrimoauriculodentodigital Syndrome
Orofacial cleft, Abnormal salivary gland morphology, Lacrimal gland aplasia, Abnormal dental enam... ORPHA:2363
Treacher Collins Syndrome 1
Cleft soft palate, Narrow mouth, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Cry... OMIM:154500
Congenital Erythropoietic Porphyria
Erythrodontia, Reticulocytosis, Poikilocytosis, Anisocytosis, Leukopenia, Splenomegaly, Thrombocy... ORPHA:79277
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Decreased response to growth hormone stimulation test, Absence of Stensen duct, Rectovaginal fist... OMIM:129900
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Abnormal salivary gland morphology, Pancytopenia, Inflammation of the l... OMIM:181000
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Decreased response to growth hormone stimulation test, Absence of Stensen duct, Anal stenosis, Se... OMIM:604292
Darier-White Disease
Enlargement of parotid gland OMIM:124200
Blau Syndrome
Abnormal salivary gland morphology, Anemia, Splenomegaly, Xerostomia ORPHA:90340
Igg4-Related Ophthalmic Disease
Enlarged lacrimal glands, Sialadenitis, Eosinophilia, Colon cancer, Orchitis, Abnormality of the ... ORPHA:449563
Igg4-Related Kidney Disease
Sialadenitis, Abnormality of the anterior pituitary, Eosinophilia ORPHA:449395
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Lacrimal gland aplasia, Conical incisor, Xerostomia, Aplasia of the paro... OMIM:149730
Kikuchi-Fujimoto Disease
Neutropenia, Anemia, Lymphocytosis, Oral ulcer, Leukopenia, Splenomegaly, Thrombocytopenia, Enlar... ORPHA:50918
Neurofibroma
Multiple intestinal neurofibromatosis, Intestinal bleeding, Enlargement of parotid gland ORPHA:252183
Lynch Syndrome
Neoplasm of the stomach, Adenoma sebaceum, Neoplasm of the pancreas, Intestinal polyposis, Ovaria... ORPHA:144
Sarcoidosis
Enlarged lacrimal glands, Anemia, Parotitis, Increased T cell count, Leukopenia, Thrombocytopenia... 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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