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Gene: Adgrl4 MGI:2655562

Gene Summary

Name:

adhesion G protein-coupled receptor L4

Synonyms:

EGF-TM7 receptor, 1110033N21Rik, Etl, Eltd1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
small liver	Adgrl4^em1(IMPC)Mbp	HOM	Early adult	0.00
increased neutrophil cell number	Adgrl4^em1(IMPC)Mbp	HOM	Early adult	1.03×10^-05
decreased mean corpuscular volume	Adgrl4^em1(IMPC)Mbp	HOM	Early adult	3.49×10^-06
abnormal liver morphology	Adgrl4^em1(IMPC)Mbp	HOM	Early adult	0.00
increased vertical activity	Adgrl4^em1(IMPC)Mbp	HOM	Early adult	5.77×10^-05
abnormal vitreous body morphology	Adgrl4^em1(IMPC)Mbp	HOM	Early adult	7.23×10^-05
abnormal skin morphology	Adgrl4^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal eye morphology	Adgrl4^em1(IMPC)Mbp	HOM	Early adult	0.00
cataract	Adgrl4^em1(IMPC)Mbp	HOM	Early adult	2.30×10^-08
decreased mean corpuscular hemoglobin	Adgrl4^em1(IMPC)Mbp	HOM	Early adult	6.17×10^-05
eye hemorrhage	Adgrl4^em1(IMPC)Mbp	HOM	Early adult	1.87×10^-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.

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.

Human diseases associated with Adgrl4 (0 diseases)
Human diseases predicted to be associated with Adgrl4 (227 diseases)

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	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
Alpha-Thalassemia	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
Trimethylaminuria	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
Delta-Beta-Thalassemia	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
Vitreoretinochoroidopathy	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
Beta-Thalassemia	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
Megalocornea	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
Leptospirosis	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
Retinoblastoma	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
Slc35A1-Cdg	Pulmonary hemorrhage, Subcutaneous hemorrhage, Abnormal bleeding, Abnormal platelet granules, Gia...	ORPHA:238459
Galactosemia	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
Beta-Thalassemia	Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio	OMIM:613985
Alpha-Thalassemia	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
Retinoblastoma	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
Thymoma	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
Trichinellosis	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
Pneumocystosis	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

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 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
Adgrl4^em1(IMPC)Mbp	Exon Deletion	Mice
Adgrl4^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Adgrl4^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Adgrl4^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

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