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
abnormal skin morphology Adgrl4em1(IMPC)Mbp HOM Early adult 0.00
cataract Adgrl4em1(IMPC)Mbp HOM   Early adult 1.46×10-08
increased neutrophil cell number Adgrl4em1(IMPC)Mbp HOM Early adult 6.40×10-06
decreased mean corpuscular hemoglobin Adgrl4em1(IMPC)Mbp HOM   Early adult 7.13×10-05
abnormal liver morphology Adgrl4em1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Adgrl4em1(IMPC)Mbp HOM Early adult 0.00
eye hemorrhage Adgrl4em1(IMPC)Mbp HOM   Early adult 2.41×10-05
small liver Adgrl4em1(IMPC)Mbp HOM Early adult 0.00
decreased mean corpuscular volume Adgrl4em1(IMPC)Mbp HOM Early adult 4.10×10-06

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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
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Hepatomegaly, Cataract ORPHA:79281
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Abnormal bleeding, Thrombocytopenia ORPHA:231393
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Cyanosis, Transient Neonatal
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis, Jaundice OMIM:613977
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... OMIM:616689
Thrombocytopenia, Cyclic
Abnormal bleeding, Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Abnormal bleeding, Thrombocytopenia... ORPHA:231401
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Anemia, Cataract OMIM:273680
Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Retinal Venous Beading
Retinal neovascularization, Vitreous hemorrhage, Neutropenia, Saccular conjunctival dilatations OMIM:180080
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Nathalie Syndrome
Cataract, Arrhythmia ORPHA:2663
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Gingival bleeding, Post-partum hemorrhage, Anemia, Melena, Ani... ORPHA:98870
Hypertension, Neutropenia, Anemia, Tachycardia, Splenomegaly OMIM:602079
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Vitreous hemorrhage OMIM:612304
Galactosemia Iv
Prolonged neonatal jaundice, Cataract OMIM:618881
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Crimean-Congo Hemorrhagic Fever
Myocarditis, Subdural hemorrhage, Melena, Splenomegaly, Acute pancreatitis, Pancytopenia, Diffuse... ORPHA:99827
Idiopathic Aplastic Anemia
Ecchymosis, Neutropenia, Gingival bleeding, Epistaxis, Anemia, Reticulocytopenia, Pancytopenia, T... ORPHA:88
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Kaposiform Lymphangiomatosis
Ecchymosis, Epidural hemorrhage, Pancreatic cysts, Subconjunctival hemorrhage, Epistaxis, Anemia,... ORPHA:464329
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatitis, Anemia, Abnormal hemoglobin, Cholelithiasis... ORPHA:848
Galactosemia Ii
Prolonged neonatal jaundice, Cataract OMIM:230200
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Hemochromatosis, Type 4
Hepatomegaly, Anemia, Cardiomyopathy, Cirrhosis, Hepatic steatosis, Cataract, Arrhythmia OMIM:606069
Retinopathy Of Prematurity
Vitreous hemorrhage ORPHA:90050
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract OMIM:618660
Refractory Anemia
Abnormal cardiac ventricular function, Macrocytic anemia, Normocytic anemia, Neutropenia, Normoch... ORPHA:98826
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly, Cataract OMIM:607906
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly, Congestive heart failure ORPHA:163596
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Retinal Capillary Malformation
Vitreous hemorrhage, Hyphema ORPHA:71213
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Corneal opac... OMIM:221900
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Hepatomegaly, Pancreatitis, Hepatic steatosis, Elevated circulating alani... OMIM:618805
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Thrombocytopenia 5
Neutropenia, Petechiae, Epistaxis, Anemia, Thrombocytopenia, Bruising susceptibility OMIM:616216
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Cataract, Splenomegaly ORPHA:79238
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Hem... ORPHA:91495
Myh9-Related Disease
Presenile cataracts, Neutrophil inclusion bodies, Increased mean platelet volume, Menorrhagia, Sp... ORPHA:182050
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytos... OMIM:603552
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Hepatomegaly, Cataract, Elevated circulating aspartate aminotransferase concentration OMIM:614876
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Uveal Melanoma
Mydriasis, Zonular cataract, Vitreous hemorrhage, Iris melanoma, Inferior lens subluxation, Cilia... ORPHA:39044
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Beta-Thalassemia Intermedia
Leukocytosis, Hepatomegaly, Erythroid hyperplasia, Elevated hepatic iron concentration, Hepatocel... ORPHA:231222
Lujo Hemorrhagic Fever
Myocarditis, Leukocytosis, Ecchymosis, Shock, Leukopenia, Subconjunctival hemorrhage, Fulminant h... ORPHA:319213
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Cerebral hemorrhage, Hypertrophic cardiomyopathy, Intracranial hemorrhage, Melena, Muscle hemorrh... ORPHA:464321
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... OMIM:614470
Familial Pseudohyperkalemia
Hypertension, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic anemia, Retic... ORPHA:90044
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Decreased liver function, Iris hypopigmentation, Cataract, Thrombocytopenia ORPHA:67048
Juvenile Xanthogranuloma
Myeloproliferative disorder, Asymmetry of iris pigmentation, Iritis, Hyphema ORPHA:158000
Hemorrhagic Fever-Renal Syndrome
Ecchymosis, Leukocytosis, Hypertension, Intracranial hemorrhage, Shock, Petechiae, Palpitations, ... ORPHA:340
Marburg Hemorrhagic Fever
Conjunctival hyperemia, Petechiae, Neutrophilia in presence of infection, Prolonged prothrombin t... ORPHA:99826
Hemochromatosis, Type 3
Neutropenia, Anemia, Cardiomyopathy, Cirrhosis, Lymphopenia, Purpura, Elevated hepatic transaminase OMIM:604250
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Primary Familial Polycythemia
Polycythemia, Abnormal bleeding, Epistaxis, Abnormal hemoglobin ORPHA:90042
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Exudative Vitreoretinopathy 4
Subcapsular cataract, Vitreous hemorrhage OMIM:601813
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage OMIM:312700
Galactose Mutarotase Deficiency
Decreased liver function, Hepatomegaly, Cataract, Cholestasis ORPHA:570422
Phacoanaphylactic Uveitis
Retinal arteritis, Conjunctival hyperemia, Hypopyon, Corneal keratic precipitates, Corneal stroma... ORPHA:209959
Sebastian syndrome
Neutrophil inclusion bodies, Epistaxis, Leukocyte inclusion bodies, Prolonged bleeding time, Gian... OMIM:605249
Exudative Vitreoretinopathy 1
Retinal neovascularization, Vitreous hemorrhage, Subcapsular cataract OMIM:133780
Neonatal Lupus Erythematosus
Hemolytic anemia, Hepatomegaly, Dilated cardiomyopathy, Neutropenia, Prolonged QT interval, Eleva... ORPHA:398124
Cataract 9, Multiple Types
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Conjunctival hyperemia, Hepatomegaly, Pericarditis, Retinal hemorrhage, Elevated serum transamina... ORPHA:509
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Neutropenia, Pulmonary hemorrhage, Subcutaneous hemorrhage, Abnormal platelet granules, Prolonged... ORPHA:238459
Microcornea, Retinal neovascularization, Vitreous hemorrhage, Pulverulent cataract OMIM:193220
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Cirrhosis, Cataract, Hepatic fibrosis, Cholestasis OMIM:609313
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Hepatomegaly, Intracranial hemorrhage, Acute leukemia, Splenomegaly, Myeloprolifera... ORPHA:3226
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Hypertension, Neutropenia, Increased mean corpuscular volume, Abnormality of t... ORPHA:2169
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Refractory Anemia With Excess Blasts
Leukocytosis, Retinal hemorrhage, Palpitations, Abnormal mean corpuscular volume, Acute myeloid l... ORPHA:86839
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreous hemorrhage, Peripheral retinal neovascularization OMIM:193235
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Mitral regurgitation, Persistence of hemogl... OMIM:612561
Hypopyon, Subretinal pigment epithelium hemorrhage, Leukemia, Heterochromia iridis, Vitreous hemo... ORPHA:790
Relapsing Fever
Leukocytosis, Leukopenia, Prolonged prothrombin time, Epistaxis, Anemia, Tachycardia, Abnormal bl... ORPHA:91547
Congenital Rubella Syndrome
Hepatomegaly, Anemia, Aplasia/Hypoplasia of the iris, Splenomegaly, Corneal opacity, Cataract, Th... ORPHA:290
Oculocerebral Hypopigmentation Syndrome Of Preus
Cataract, Hypochromic anemia OMIM:257790
Griscelli Syndrome Type 2
Hepatomegaly, Neutropenia, Petechiae, Splenomegaly, Iris hypopigmentation, Pancytopenia, Hemophag... ORPHA:79477
Eales Disease
Epistaxis, Peripheral retinal neovascularization, Iris neovascularization, Transient ischemic att... ORPHA:40923
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Splenomegaly, Cataract, Hemolytic anemia, Jaundice OMIM:608885
Familial Exudative Vitreoretinopathy
Retinal neovascularization, Vitreous hemorrhage, Cataract, Macular telangiectasia ORPHA:891
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Beta-Thalassemia Major
Dilated cardiomyopathy, Hepatomegaly, Anisopoikilocytosis, Hypochromic microcytic anemia, Hepatic... ORPHA:231214
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage ORPHA:88619
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Hypochromic microcytic anemia, Hepatic fibrosis, Hepatocellular carcinoma... ORPHA:231226
Galactosemia I
Hepatomegaly, Cirrhosis, Decreased liver function, Cataract, Hemolytic anemia OMIM:230400
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Anemia, Abnormality of the pancreas, Neutrophilia, Elevated hepatic transaminase, ... ORPHA:54251
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Monocytosis, Pulmonary hemorrhage, Neutrophilia, Hepatosplenomegaly, Acute hepatic ... OMIM:619644
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Hypertrophic cardiomyopathy, Hypertension, Congestive heart failure, Pulmonary embolism, Cataract... ORPHA:1345
Pseudo-Torch Syndrome 1
Hepatomegaly, Opacification of the corneal stroma, Petechiae, Splenomegaly, Decreased liver funct... OMIM:251290
Waldenström Macroglobulinemia
Hepatomegaly, Normocytic anemia, Gingival bleeding, Leukemia, Epistaxis, Splenomegaly, Gastrointe... ORPHA:33226
Diamond-Blackfan Anemia 4
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia OMIM:612527
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Hepatomegaly, Cirrhosis, Abnormal bleeding, Cataract, Hepatic failure, Elevated hepatic transamin... ORPHA:352
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Hepatomegaly, Normocytic anemia, Syncope, Normochromic ... ORPHA:98849
Shwachman-Diamond Syndrome
Chronic neutropenia, Macrocytic anemia, Hepatomegaly, Neutropenia, Normocytic anemia, Leukopenia,... ORPHA:811
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Chediak-Higashi Syndrome
Hepatomegaly, Neutropenia, Leukopenia, Ocular albinism, Abnormal dense granules, Giant neutrophil... OMIM:214500
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia OMIM:619281
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Neutropenia OMIM:618752
Blackfan-Diamond Anemia
Thrombocytosis, Developmental cataract, Elevated red cell adenosine deaminase level, Neutropenia,... ORPHA:124
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... ORPHA:2334
Shwachman-Diamond Syndrome 1
Hepatomegaly, Neutropenia, Elevated hepatic transaminase, Anemia, Persistence of hemoglobin F, Ac... OMIM:260400
Acquired Methemoglobinemia
Syncope, Palpitations, Methemoglobinemia, Tachycardia, Arrhythmia ORPHA:464453
Adult-Onset Still Disease
Myocarditis, Leukocytosis, Hepatomegaly, Pericarditis, Hepatitis, Splenomegaly, Neutrophilia, Ele... ORPHA:829
Eisenmenger Syndrome
Right ventricular failure, Syncope, Left-to-right shunt, Brain abscess, Ventricular arrhythmia, I... ORPHA:97214
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Telangiectasia, Micronodular cirrhosis, Vasculitis in the skin, Raynaud phenomenon, Punctate vasc... OMIM:192315
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Iron deficiency anemia, Chronic hepatitis, Hepatitis, Cirrhosis, Cataract, Exocrine pan... OMIM:269200
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... ORPHA:67043
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia, Bruising susceptibility ORPHA:98791
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Increased mean corpuscular volume, Mitral regurgitation, Astigmatism, Thr... ORPHA:261250
Diamond-Blackfan Anemia 7
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612562
Rift Valley Fever
Gingival bleeding, Retinal hemorrhage, Hepatitis, Anemia, Melena, Abnormal bleeding, Elevated hep... ORPHA:319251
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Wiskott-Aldrich Syndrome
Neutropenia, Petechiae, Hypoplasia of the thymus, Chronic leukemia, Recurrent intrapulmonary hemo... ORPHA:906
Cataract 47
Microcornea, Cataract OMIM:612018
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Increased mean corpuscular volume OMIM:277410
Leukemia, Vitreous hemorrhage, Leukocoria OMIM:180200
Anterior Segment Dysgenesis 7
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
Retinal Arteries, Tortuosity Of
Retinal hemorrhage OMIM:180000
Congenital Bile Acid Synthesis Defect Type 4
Giant cell hepatitis, Cholelithiasis, Cholestatic liver disease, Cataract, Elevated hepatic trans... ORPHA:79095
Letterer-Siwe Disease
Neutropenia, Anemia, Hepatosplenomegaly, Thrombocytopenia, Jaundice OMIM:246400
Cataract 15, Multiple Types
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract OMIM:615274
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Ectopia Lentis Et Pupillae
Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Retinal neovascularization, Abnormal anterior eye segment morphology ORPHA:411527
Pseudoxanthoma Elasticum
Hypertension, Retinal hemorrhage, Renovascular hypertension, Restrictive cardiomyopathy, Mitral s... OMIM:264800
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... OMIM:610256
Psoriasis 14, Pustular
Leukocytosis, Cholangitis, Neutrophilia OMIM:614204
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Noncompaction cardiomyopathy, Leukopenia, Anemia, Tricuspid regur... ORPHA:508542
Granulomatosis With Polyangiitis
Retinal hemorrhage, Keratitis, Diffuse alveolar hemorrhage, Granulomatosis, Localized pulmonary h... OMIM:608710
Kasabach-Merritt Syndrome
Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Petechiae, Prolonged prothrombin time... ORPHA:2330
Oculocerebral Hypopigmentation Syndrome, Preus Type
Ocular albinism, Hypochromic anemia, Cataract, Iris hypopigmentation, Abnormality of neutrophils ORPHA:2720
Tubulointerstitial Nephritis And Uveitis Syndrome
Reduced hematocrit, Normocytic anemia, Normochromic anemia, Vitreous hemorrhage, Posterior synech... ORPHA:91500
Hereditary Cryohydrocytosis With Reduced Stomatin
Stomatocytosis, Hepatosplenomegaly, Zonular cataract, Cataract, Spontaneous hemolytic crises, Jau... ORPHA:168577
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage OMIM:264420
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Supraventricular arrhythmia, Raynaud phenomenon, Retinal hemorrhage OMIM:611773
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Cholangitis, Portal fibrosis, Raynaud phenomenon, Splenomegaly, Hepatospl... ORPHA:3260
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Isolated Ectopia Lentis
Hypertension, Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Macular Degeneration, Age-Related, 1
Macular hemorrhage OMIM:603075
Incontinentia Pigmenti
Pulmonary arterial hypertension, Telangiectasia of the skin, Cerebral ischemia, Keratitis, Cornea... ORPHA:464
Incontinentia Pigmenti
Leukocytosis, Keratitis, Cataract, Eosinophilia, Retinal hemorrhage OMIM:308300
Cockayne Syndrome Type 3
Keratoconjunctivitis sicca, Hepatomegaly, Subdural hemorrhage, Cardiomyopathy, Increased blood pr... ORPHA:90324
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Asplenia, Axenfeld anomaly, Pulmonic stenosis, Iris atrophy, Abnormal pupil morphology, Iris colo... ORPHA:261552
Yellow Fever
Shock, Leukocytosis, Reduced ejection fraction, Prolonged prothrombin time, Capillary leak, Brady... ORPHA:99829
Mucoepithelial Dysplasia, Hereditary
Melena, Cataract, Opacification of the corneal stroma, Eosinophilia, Keratoconjunctivitis, Cornea... OMIM:158310
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Hermansky-Pudlak Syndrome
Neutropenia, Ocular albinism, Epistaxis, Cardiomyopathy, Gastrointestinal hemorrhage, Iris hypopi... ORPHA:79430
Aniridia 2
Aniridia, Cataract OMIM:617141
Pearson Syndrome
Hepatomegaly, Neutropenia, Macronodular cirrhosis, Elevated hepatic transaminase, Cardiac conduct... ORPHA:699
Pseudoxanthoma Elasticum, Forme Fruste
Cerebral hemorrhage, Gastrointestinal hemorrhage, Retinal hemorrhage, Angina pectoris OMIM:177850
Pseudoxanthoma Elasticum
Hypertension, Angina pectoris, Restrictive cardiomyopathy, Telangiectasia of the skin, Gastrointe... ORPHA:758
Staphylococcal Necrotizing Pneumonia
Shock, Leukocytosis, Leukopenia, Neutrophilia, Hypotension ORPHA:36238
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Prolonged prothrombin time, Anemia, Abnormal bleeding, Hepatic steatosis, Hepatospl... ORPHA:247598
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:141750
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Abscess, Hepatomegaly, Splenomegaly OMIM:612852
Leukemia, Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Cataract 5, Multiple Types
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract OMIM:116800
Sweet Syndrome
Dilated cardiomyopathy, Leukocytosis, Chronic lymphatic leukemia, Sterile abscess, Anemia, Acute ... ORPHA:3243
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Vasculitis, Neutrophilia, Increased proportion of CD4-positive T cells OMIM:617099
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia ORPHA:1302
Lead Poisoning
Abnormal T cell morphology, Hypertension, Imbalanced hemoglobin synthesis, Anemia ORPHA:330015
Lethal Congenital Contracture Syndrome 5
Retinal hemorrhage OMIM:615368
Familial Mediterranean Fever
Leukocytosis, Hepatomegaly, Pericarditis, Peritonitis, Splenomegaly, Neutrophilia OMIM:249100
Aniridia 1
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... OMIM:106210
Cockayne Syndrome
Keratoconjunctivitis sicca, Hepatomegaly, Hypertension, Developmental cataract, Splenomegaly, Len... ORPHA:191
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia ORPHA:1930
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Leukocyte Adhesion Deficiency Type Ii
Leukocytosis, Hepatomegaly, Anemia, Keratitis, Neutrophilia, Microcytic anemia ORPHA:99843
Familial Drusen
Macular hemorrhage ORPHA:75376
Glutaryl-Coa Dehydrogenase Deficiency
Retinal hemorrhage, Subdural hemorrhage ORPHA:25
Abnormal neutrophil count ORPHA:723
Conjunctival hyperemia, Conjunctivitis, Anisocoria, Retinal hemorrhage ORPHA:863
Hyper-Igd Syndrome
Leukocytosis, Hepatosplenomegaly, Neutrophilia, Splenomegaly OMIM:260920
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Subretinal pigment epithelium hemorrhage ORPHA:357074
Generalized Arterial Calcification Of Infancy
Hypertension, Hepatic calcification, Pancreatic calcification, Pulmonary arterial hypertension, L... ORPHA:51608


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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