Gene Summary

adhesion G protein-coupled receptor L4
EGF-TM7 receptor,  1110033N21Rik,  Etl,  Eltd1

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
small liver Adgrl4em1(IMPC)Mbp HOM Early adult 0.00
increased neutrophil cell number Adgrl4em1(IMPC)Mbp HOM Early adult 1.03×10-05
decreased mean corpuscular volume Adgrl4em1(IMPC)Mbp HOM Early adult 3.49×10-06
abnormal liver morphology Adgrl4em1(IMPC)Mbp HOM Early adult 0.00
increased vertical activity Adgrl4em1(IMPC)Mbp HOM Early adult 5.77×10-05
abnormal vitreous body morphology Adgrl4em1(IMPC)Mbp HOM Early adult 7.23×10-05
abnormal skin morphology Adgrl4em1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Adgrl4em1(IMPC)Mbp HOM Early adult 0.00
cataract Adgrl4em1(IMPC)Mbp HOM   Early adult 2.30×10-08
decreased mean corpuscular hemoglobin Adgrl4em1(IMPC)Mbp HOM   Early adult 6.17×10-05
eye hemorrhage Adgrl4em1(IMPC)Mbp HOM   Early adult 1.87×10-05

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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.

Phenotype associated images not available

Human diseases caused by Adgrl4 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 Adgrl4 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Cataract, Hepatomegaly ORPHA:79281
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F ORPHA:46532
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal bleeding, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... OMIM:312700
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Persistent Hyperplastic Primary Vitreous
Hemorrhage of the eye, Tractional retinal detachment, Leukocoria, Hyaloid vascular remnant and re... ORPHA:91495
Cyanosis, Transient Neonatal
Anemia, Jaundice, Reticulocytosis, Hepatomegaly, Methemoglobinemia OMIM:613977
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Jaund... OMIM:616689
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Abnormal bleeding, Bruising susceptibility, HbH hemoglobin, Thrombocytopenia, Acute ... ORPHA:231401
Retinopathy Of Prematurity
Vitreous hemorrhage, Tractional retinal detachment ORPHA:90050
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Pigment gallstones, Chronic hemol... ORPHA:232
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Leukocoria, Posterior synechiae of the anterior chamber, Microcornea, Buphthalmos, Iris coloboma,... OMIM:221900
Spinocerebellar Ataxia, Autosomal Recessive 24
Gait ataxia, Cataract, Limb ataxia, Spastic gait OMIM:617133
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Anemia, Hemolytic anemia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemoglobin, Splenomeg... ORPHA:846
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Dehydrated Hereditary Stomatocytosis
Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Congenital hemolytic ... ORPHA:3202
Crimean-Congo Hemorrhagic Fever
Hypotension, Hemoperitoneum, Tachycardia, Abnormal left ventricular function, Subdural hemorrhage... ORPHA:99827
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin ORPHA:3319
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Post-partum hemorrhage, Elevated hepatic transaminase, Poikilocytosis, Abnormal erythrocy... ORPHA:98870
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Pulmonary embolism, Vitreous hemorrhage, Purpura OMIM:612304
Uveal Melanoma
Vitreous hemorrhage, Iris melanoma, Zonular cataract, Mydriasis, Ciliary body melanoma, Inferior ... ORPHA:39044
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Abno... ORPHA:75564
Anemia, Hypertension, Tachycardia, Neutropenia, Splenomegaly OMIM:602079
Kaposiform Lymphangiomatosis
Pancreatic cysts, Anemia, Epidural hemorrhage, Abnormal spleen morphology, Abnormal bleeding, Bru... ORPHA:464329
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Anemia, Abnormal hemoglobin, Microcytic anemia ORPHA:231237
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Triokinase And Fmn Cyclase Deficiency Syndrome
Elevated circulating alanine aminotransferase concentration, Dilated cardiomyopathy, Broad-based ... OMIM:618805
Vitreous hemorrhage, Pulverulent cataract, Developmental cataract, Microcornea, Retinal neovascul... OMIM:193220
Galactosemia Iv
Cataract, Prolonged neonatal jaundice OMIM:618881
Lujo Hemorrhagic Fever
Hypotension, Leukopenia, Myocarditis, Fulminant hepatitis, Elevated hepatic transaminase, Purpura... ORPHA:319213
Idiopathic Aplastic Anemia
Retinal hemorrhage, Anemia, Reticulocytopenia, Pancytopenia, Ecchymosis, Epistaxis, Gingival blee... ORPHA:88
Retinal Capillary Malformation
Hyphema, Vitreous hemorrhage ORPHA:71213
Anemia, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Cholelithiasis, Thrombocytopenia, A... ORPHA:848
Exudative Vitreoretinopathy 4
Vitreous hemorrhage, Tractional retinal detachment, Subcapsular cataract OMIM:601813
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo... OMIM:261000
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume OMIM:252270
Hemochromatosis, Type 4
Anemia, Cirrhosis, Hepatic steatosis, Cataract, Hepatomegaly, Arrhythmia, Cardiomyopathy OMIM:606069
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Jaundice, Pancytopenia, Ataxia, Hepatomegaly, Increased mean corpuscular vo... OMIM:613839
Refractory Anemia
Abnormal cardiac ventricular function, Neutropenia, Normocytic anemia, Abnormal bleeding, Erythro... ORPHA:98826
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Hb Bart'S Hydrops Fetalis
Anemia, Congestive heart failure, Pericarditis, Hepatomegaly, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Corneal Dystrophy, Groenouw Type I
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy OMIM:121900
Diamond-Blackfan Anemia 3
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Retinal hemorrhage, Vitreous hemorrhage, Abnormality of the liver, Cerebral hemorrhage, Intracran... ORPHA:464321
Hemorrhagic Fever-Renal Syndrome
Hypotension, Anemia, Petechiae, Elevated hepatic transaminase, Intracranial hemorrhage, Internal ... ORPHA:340
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia, Neutropenia, Sp... OMIM:615285
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia OMIM:618660
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... OMIM:613673
Beta-Thalassemia Intermedia
Cholelithiasis, Pulmonary arterial hypertension, Cirrhosis, Abnormality of the liver, Decreased l... ORPHA:231222
Galactose Epimerase Deficiency
Jaundice, Cataract, Splenomegaly, Hepatomegaly ORPHA:79238
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia OMIM:618849
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Anemia, Jaundice, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Neutropenia, ... OMIM:603552
Myh9-Related Disease
Presenile cataracts, Spontaneous, recurrent epistaxis, Elevated hepatic transaminase, Bruising su... ORPHA:182050
Phacoanaphylactic Uveitis
Corneal keratic precipitates, Abnormal pupil morphology, Retinal arteritis, Tractional retinal de... ORPHA:209959
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Anemia, Pancytopenia, Ataxia, Dysmetria, Unsteady gait, Thrombocyt... OMIM:159550
Marburg Hemorrhagic Fever
Hypotension, Elevated hepatic transaminase, Reticulocytosis, Pericarditis, Shock, Capillary leak,... ORPHA:99826
Senior-Loken Syndrome
Hypertension, Ataxia, Abnormality of retinal pigmentation, Cataract, Congenital hepatic fibrosis ORPHA:3156
Vitreoretinopathy, Neovascular Inflammatory
Retinal detachment, Posterior retinal neovascularization, Peripheral retinal neovascularization, ... OMIM:193235
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Tractional retinal detachment, Rhegmatogenous retinal detachment, Abnormal o... ORPHA:891
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... OMIM:300946
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Eales Disease
Iris neovascularization, Tractional retinal detachment, Ischemic stroke, Vitreous hemorrhage, Tra... ORPHA:40923
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract, Decreased liver function, Thrombocytopenia, Cardiomyopathy ORPHA:67048
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Hepatom... OMIM:614470
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... OMIM:202700
Thrombocytopenia 5
Anemia, Petechiae, Bruising susceptibility, Epistaxis, Thrombocytopenia, Neutropenia OMIM:616216
Exudative Vitreoretinopathy 1
Retinal neovascularization, Vitreous hemorrhage, Subcapsular cataract, Retinal detachment OMIM:133780
Bone Marrow Failure And Diabetes Mellitus Syndrome
T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume OMIM:620044
Hypotension, Retinal hemorrhage, Pulmonary hemorrhage, Hepatitis, Jaundice, Subconjunctival hemor... ORPHA:509
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:300448
Hemochromatosis, Type 3
Anemia, Cirrhosis, Elevated hepatic transaminase, Purpura, Lymphopenia, Neutropenia, Cardiomyopathy OMIM:604250
Familial Acute Necrotizing Encephalopathy
Gait disturbance, Choroid hemorrhage ORPHA:88619
Juvenile Xanthogranuloma
Iritis, Asymmetry of iris pigmentation, Hyphema, Myeloproliferative disorder ORPHA:158000
Vitreous hemorrhage, Retinal calcification, Leukocoria, Subretinal pigment epithelium hemorrhage,... ORPHA:790
Neonatal Lupus Erythematosus
Anemia, Hepatic failure, Abnormality of the liver, Neutropenia, Hemolytic anemia, Elevated hepati... ORPHA:398124
Familial Pseudohyperkalemia
Stomatocytosis, Hypertension, Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscu... ORPHA:90044
Cataract-Microcornea Syndrome
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy ORPHA:1377
Primary Familial Polycythemia
Epistaxis, Abnormal bleeding, Abnormal hemoglobin, Polycythemia ORPHA:90042
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Subconjunctival hemorrhage, Vasculitis in the skin, Thrombocytopenia, Decreased me... OMIM:617718
Methylcobalamin Deficiency Type Cble
Abnormality of the liver, Hypertension, Pancytopenia, Macrocytic anemia, Increased mean corpuscul... ORPHA:2169
Congenital Rubella Syndrome
Anemia, Aplasia/Hypoplasia of the iris, Jaundice, Abnormality of retinal pigmentation, Cataract, ... ORPHA:290
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Retinal hemorrhage, Abnormal mean corpuscular volume, Abnormal bleeding, ... ORPHA:86839
Galactose Mutarotase Deficiency
Decreased liver function, Cataract, Cholestasis, Hepatomegaly ORPHA:570422
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Hepatomegaly, Impaired oxidative burst, Thromb... OMIM:226990
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Bruising susceptibility, Prolonged bleeding time, Abnormal neutrophil co... ORPHA:3226
Anemia, Sideroblastic, 5
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia OMIM:619523
Dyskeratosis Congenita, Autosomal Dominant 1
Leukopenia, Anemia, Cirrhosis, Hepatic necrosis, Lymphopenia, Ataxia, Increased mean corpuscular ... OMIM:127550
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Waldenström Macroglobulinemia
Retinal hemorrhage, Leukemia, Normocytic anemia, Purpura, Congestive heart failure, Ataxia, Abnor... ORPHA:33226
Pulmonary hemorrhage, Subcutaneous hemorrhage, Abnormal bleeding, Abnormal platelet granules, Gia... ORPHA:238459
Cirrhosis, Hepatic failure, Gait imbalance, Jaundice, Elevated hepatic transaminase, Abnormal ery... ORPHA:352
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Mitral regurgitation, Macrocytic anemia, Persistence of hemogl... OMIM:612561
Relapsing Fever
Hypotension, Leukopenia, Anemia, Jaundice, Neutrophilia, Elevated hepatic transaminase, Abnormal ... ORPHA:91547
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o... OMIM:617319
Galactosemia I
Elevated circulating alanine aminotransferase concentration, Cirrhosis, Hemolytic anemia, Elevate... OMIM:230400
Griscelli Syndrome Type 2
Petechiae, Iris hypopigmentation, Jaundice, Pancytopenia, Hemophagocytosis, Hepatomegaly, Neutrop... ORPHA:79477
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology, Retinal detachment ORPHA:190
Dominant Beta-Thalassemia
Hepatic fibrosis, Cirrhosis, Hypersplenism, Reduced hemoglobin A, Jaundice, Decreased mean corpus... ORPHA:231226
Beta-Thalassemia Major
Hepatic fibrosis, Cirrhosis, Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased ... ORPHA:231214
Central Retinal Vein Occlusion
Abnormal anterior eye segment morphology, Macular degeneration, Retinal neovascularization, Intra... ORPHA:411527
Chediak-Higashi Syndrome
Leukopenia, Anemia, Ocular albinism, Iris hypopigmentation, Jaundice, Spontaneous, recurrent epis... OMIM:214500
Immunodeficiency 91 And Hyperinflammation
Pulmonary hemorrhage, Neutrophilia, Elevated hepatic transaminase, Hepatosplenomegaly, Hemophagoc... OMIM:619644
Wolfram Syndrome 1
Megaloblastic anemia, Optic atrophy, Sideroblastic anemia, Ataxia, Cataract, Dysphagia, Thrombocy... OMIM:222300
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Lattice retinal degeneration, Cataract, Retinal detachment OMIM:614292
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Elevated hepatic transaminase, Ataxia, Cataract, Giant cell hepatitis,... ORPHA:79095
Shwachman-Diamond Syndrome
Pancreatic hypoplasia, Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropen... ORPHA:811
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Anemia, Abnormality of the pancreas, Brain abscess, Liver abscess, Neutrophilia, Elevated hepatic... ORPHA:54251
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal hemorrhage, Telangiectasia, Punctate vasculitis skin lesions, Raynaud phenomenon, Elevate... OMIM:192315
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Iris coloboma, Posterior lenticonus, Microcornea ORPHA:231736
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Cataract, Ventricular ta... OMIM:615184
Macular Degeneration, Age-Related, 1
Macular hemorrhage, Macular degeneration, Geographic atrophy OMIM:603075
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphati... ORPHA:98849
Exfoliation Syndrome
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... OMIM:177650
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Optic nerve hypoplasia, Astigmatism, Mitral regurgitation, Dysphagia, Inc... ORPHA:261250
Mevalonic Aciduria
Anemia, Elevated hepatic transaminase, Ataxia, Hepatosplenomegaly, Normocytic hypoplastic anemia,... OMIM:610377
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Stomatocytosis, Hemolytic anemia, Inability to walk, Jaundice, Ataxia, Cataract, Nuclear cataract... OMIM:608885
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Hereditary Methemoglobinemia
Methemoglobinemia, Athetosis ORPHA:621
Alpha-Mannosidosis, Adult Form
Pancytopenia, Hepatosplenomegaly, Aortic regurgitation, Ataxia, Cataract, Corneal opacity, Optic ... ORPHA:309288
Immunodeficiency 14B, Autosomal Recessive
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis OMIM:619281
Congenital Sialidosis Type 2
Telangiectasia, Optic atrophy, Abnormal EKG, Petechiae, Developmental cataract, Hepatosplenomegal... ORPHA:93400
Blackfan-Diamond Anemia
Acute myeloid leukemia, Developmental glaucoma, Leukopenia, Reticulocytopenia, Pure red cell apla... ORPHA:124
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia ORPHA:2688
Eisenmenger Syndrome
Brain abscess, Ventricular arrhythmia, Supraventricular arrhythmia, Angina pectoris, Palpitations... ORPHA:97214
Immunodeficiency 96
Increased mean corpuscular volume, Conjunctival telangiectasia, Increased proportion of gamma-del... OMIM:619774
Ectopia Lentis Et Pupillae
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Retinal detachment, Pe... OMIM:225200
Aniridia 2
Optic atrophy, Lens subluxation, Cataract, Iris coloboma, Aniridia OMIM:617141
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia, Spastic ataxia OMIM:277410
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... OMIM:608203
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage, Peripheral retinal degeneration OMIM:264420
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Poikilocytosis, Anisocytosis, Macrocytic anemia, Thrombocytopenia, Neutropenia, A... OMIM:300835
Rift Valley Fever
Retinal hemorrhage, Anemia, Hepatitis, Jaundice, Elevated hepatic transaminase, Abnormal bleeding... ORPHA:319251
Pseudoxanthoma Elasticum
Retinal hemorrhage, Restrictive cardiomyopathy, Optic disc drusen, Mitral stenosis, Macular degen... OMIM:264800
Leukocoria, Vitreous hemorrhage, Leukemia, Retinal calcification OMIM:180200
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Anemia, Elevated hepatic transaminase, Pancytopenia, Persistence of hemog... OMIM:260400
Acquired Methemoglobinemia
Syncope, Palpitations, Arrhythmia, Methemoglobinemia, Tachycardia ORPHA:464453
Adult-Onset Still Disease
Hepatitis, Neutrophilia, Elevated hepatic transaminase, Pericarditis, Leukocytosis, Hepatomegaly,... ORPHA:829
Familial Drusen
Macular hemorrhage, Granular macular appearance, Macular atrophy, Abnormality of retinal pigmenta... ORPHA:75376
Autosomal Dominant Keratitis
Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neovascularization, Micr... ORPHA:2334
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Truncal ataxia, Limb ataxia, Broad-based gait, Persistence of hemoglobin F OMIM:617101
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Lens subluxation, Cataract, Retinal detachment, Microphakia ORPHA:171844
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Corneal guttata, Snowflake vitreoretinal degeneration OMIM:193230
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612562
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Aniridia, Ectopia lentis ORPHA:1068
Wiskott-Aldrich Syndrome
Sudden cardiac death, Hypoplasia of the thymus, Prolonged bleeding time, Hematemesis, Thrombocyto... ORPHA:906
Incontinentia Pigmenti
Pulmonary arterial hypertension, Retinal hemorrhage, Cerebral ischemia, Gait disturbance, Congest... ORPHA:464
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Bruising susceptibility, Microcytic anemia ORPHA:98791
Cockayne Syndrome Type 3
Retinal hemorrhage, Lentiglobus, Retinal atrophy, Retinal degeneration, Keratoconjunctivitis sicc... ORPHA:90324
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... OMIM:269400
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Lacunar stroke, Retinal hemorrhage, Supraventricular arrhythmia, Raynaud phenomenon OMIM:611773
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin, Prolonged neonatal jaundice, Optic disc pallor, Macular coloboma ORPHA:423479
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Cirrhosis, Keratoconjunctivitis, Hepatitis, Exocrine pancreatic insufficiency, Cataract... OMIM:269200
Retinal Arteries, Tortuosity Of
Retinal hemorrhage OMIM:180000
Oculocerebral Hypopigmentation Syndrome, Preus Type
Ocular albinism, Iris hypopigmentation, Ataxia, Abnormality of neutrophils, Cataract, Hypochromic... ORPHA:2720
Tubulointerstitial Nephritis And Uveitis Syndrome
Vitreous hemorrhage, Reduced hematocrit, Anterior chamber flare, Posterior synechiae of the anter... ORPHA:91500
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Pierson Syndrome
Retinal hemorrhage, Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the... OMIM:609049
Granulomatosis With Polyangiitis
Conjunctivitis, Retinal hemorrhage, Granulomatosis, Diffuse alveolar hemorrhage, Localized pulmon... OMIM:608710
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Peters anomaly, Corneal opacity, Op... OMIM:120200
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Cataract, Iris coloboma, Optic disc coloboma, Retinal coloboma OMIM:216820
Norrie Disease
Optic atrophy, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior chamber, Catarac... OMIM:310600
Anterior Segment Dysgenesis 2
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... OMIM:610256
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Abnormal pupil morphology, Asplenia, Optic atrophy, Inability to walk, Hyphema, Axenfeld anomaly,... ORPHA:261552
Hereditary Cryohydrocytosis With Reduced Stomatin
Stomatocytosis, Spontaneous hemolytic crises, Zonular cataract, Jaundice, Ataxia, Hepatosplenomeg... ORPHA:168577
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Noncompaction cardiomyopathy, Lymphopen... ORPHA:508542
Cockayne Syndrome
Optic atrophy, Inability to walk, Retinal atrophy, Keratoconjunctivitis sicca, Elevated hepatic t... ORPHA:191
Incontinentia Pigmenti
Retinal hemorrhage, Optic atrophy, Cataract, Leukocytosis, Eosinophilia, Retinal detachment, Kera... OMIM:308300
Classic Homocystinuria
Pulmonary embolism, Optic atrophy, Subcutaneous hemorrhage, Cerebral ischemia, Elevated hepatic t... ORPHA:394
Pseudoxanthoma Elasticum, Forme Fruste
Retinal hemorrhage, Cerebral hemorrhage, Macular degeneration, Angina pectoris, Gastrointestinal ... OMIM:177850
Pearson Syndrome
Elevated hepatic transaminase, Reticulocytosis, Hepatic steatosis, Hepatomegaly, Dysphagia, Throm... ORPHA:699
Idiopathic Hypereosinophilic Syndrome
Supraventricular arrhythmia, Elevated hepatic transaminase, Hepatosplenomegaly, Eosinophilia, Mye... ORPHA:3260
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... ORPHA:67043
Kasabach-Merritt Syndrome
Leukopenia, Anemia, Petechiae, Microangiopathic hemolytic anemia, Purpura, Reticulocytosis, Hepat... ORPHA:2330
Staphylococcal Necrotizing Pneumonia
Hypotension, Leukopenia, Neutrophilia, Shock, Leukocytosis, Alcoholism ORPHA:36238
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis, Cholangitis OMIM:614204
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Astigmatism, Persistence of hemoglobin F OMIM:619769
Lead Poisoning
Abnormal T cell morphology, Anemia, Hypertension, Imbalanced hemoglobin synthesis, Attention defi... ORPHA:330015
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Retinal hemorrhage, Hemolytic anemia, Peripapillary atrophy, Ischemic stroke, Cerebral hemorrhage... OMIM:175780
Lethal Congenital Contracture Syndrome 5
Retinal hemorrhage, Subdural hemorrhage OMIM:615368
Glutaryl-Coa Dehydrogenase Deficiency
Retinal hemorrhage, Ataxia, Subdural hemorrhage, Dysphagia, Athetosis ORPHA:25
Pseudoxanthoma Elasticum
Sudden cardiac death, Retinal hemorrhage, Restrictive cardiomyopathy, Angina pectoris, Bruising s... ORPHA:758
Herpes Simplex Virus Encephalitis
Neutrophilia, Alcoholism, Leukocytosis ORPHA:1930
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Retinal dysplasia, Cataract, Peters anomaly, Remnants of the hyaloid vasc... OMIM:614643
Yellow Fever
Elevated circulating alanine aminotransferase concentration, Pancreatic hyperplasia, Reduced left... ORPHA:99829
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Leukocyte Adhesion Deficiency Type Ii
Anemia, Neutrophilia, Ataxia, Impaired tandem gait, Leukocytosis, Hepatomegaly, Keratitis, Microc... ORPHA:99843
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia OMIM:165550
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Abscess, Splenomegaly, Hepatomegaly OMIM:612852
Oculo-Palato-Cerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system, Cataract, Retinal detachment ORPHA:2714
Aniridia 1
Corneal erosion, Hypoplasia of the iris, Corneal neovascularization, Anterior subcapsular catarac... OMIM:106210
Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia, Leukemia ORPHA:99867
Sweet Syndrome
Acute myeloid leukemia, Anemia, Sterile abscess, Chronic lymphatic leukemia, Small vessel vasculi... ORPHA:3243
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin, Optic atrophy ORPHA:847
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Corneal scarring, Hypertension, Bradycardia, Tachycardia OMIM:614653
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased proportion of CD4-positive T cells, Leukocytosis, Vasculitis OMIM:617099
Conjunctivitis, Retinal hemorrhage, Dysphagia, Anisocoria, Conjunctival hyperemia ORPHA:863
Familial Mediterranean Fever
Neutrophilia, Pericarditis, Leukocytosis, Hepatomegaly, Peritonitis, Splenomegaly OMIM:249100
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Dysphagia, Cortical cata... ORPHA:637
Norrie Disease
Abnormal pupil morphology, Optic atrophy, Hypoplasia of the iris, Anterior chamber synechiae, Ect... ORPHA:649
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:301040
Hyper-Igd Syndrome
Neutrophilia, Hepatosplenomegaly, Leukocytosis, Optic disc pallor, Splenomegaly OMIM:260920
Abnormal neutrophil count ORPHA:723
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Subretinal pigment epithelium hemorrhage ORPHA:357074
Neuroocular Syndrome
Brushfield spots, Lens coloboma, Microcornea, Iris coloboma, Peters anomaly, Cataract, Blue iride... OMIM:619539
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Microphthalmia, Syndromic 2
Developmental cataract, Microcornea, Remnants of the hyaloid vascular system, Iris coloboma, Reti... OMIM:300166
Generalized Arterial Calcification Of Infancy
Pulmonary arterial hypertension, Retinal hemorrhage, Pancreatic calcification, Transient ischemic... ORPHA:51608
Holoprosencephaly 2
Iris coloboma, Remnants of the hyaloid vascular system OMIM:157170


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 Adgrl4

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 Adgrl4.

No publications found that use IMPC mice or data for Adgrl4.

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MGI Allele Allele Type Produced
Adgrl4em1(IMPC)Mbp Exon Deletion Mice
Adgrl4tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Adgrl4tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Adgrl4tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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