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Gene: Adgrl4 MGI:2655562

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased mean corpuscular volume Adgrl4em1(IMPC)Mbp HOM Early adult 2.26×10-06
increased neutrophil cell number Adgrl4em1(IMPC)Mbp HOM Early adult 3.60×10-05
abnormal skin morphology Adgrl4em1(IMPC)Mbp HOM Early adult 0.00
abnormal vitreous body morphology Adgrl4em1(IMPC)Mbp HOM Early adult 9.65×10-06
small liver Adgrl4em1(IMPC)Mbp HOM Early adult 0.00
abnormal retina morphology Adgrl4em1(IMPC)Mbp HOM   Early adult 1.41×10-07
abnormal liver morphology Adgrl4em1(IMPC)Mbp HOM Early adult 0.00
cataract Adgrl4em1(IMPC)Mbp HOM Early adult 1.57×10-05
abnormal eye morphology Adgrl4em1(IMPC)Mbp HOM Early adult 0.00
eye hemorrhage Adgrl4em1(IMPC)Mbp HOM   Early adult 1.14×10-05
increased vertical activity Adgrl4em1(IMPC)Mbp HOM Early adult 7.69×10-05
decreased mean corpuscular hemoglobin Adgrl4em1(IMPC)Mbp HOM   Early adult 6.31×10-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

3 Images

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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
phenotypes		 Matching phenotypes Source
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Retinopathy Of Prematurity
Cataract, Abnormal macular morphology, Retinal arteriolar tortuosity, Tractional retinal detachme... ORPHA:90050
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Hemorrhage of... ORPHA:3002
Familial Exudative Vitreoretinopathy
Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Tractional retinal detachment, Epir... ORPHA:891
Exudative Vitreoretinopathy 4
Retinal exudate, Exudative vitreoretinopathy, Posterior vitreous detachment, Tractional retinal d... OMIM:601813
Persistent Hyperplastic Primary Vitreous
Retinal fold, Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Hemorrhage of... ORPHA:91495
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Cataract, Hepatomegaly ORPHA:79281
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Retinal Capillary Malformation
Retinal exudate, Retinal capillary hemangioma, Subretinal exudate, Hyphema, Epiretinal membrane, ... ORPHA:71213
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Eales Disease
Epistaxis, Macular edema, Rubeosis iridis, Retinal thinning, Peripheral retinal neovascularizatio... ORPHA:40923
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia ORPHA:231393
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Reticular pigmentary degenerat... ORPHA:75376
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal fold, Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior c... OMIM:221900
Thrombocytopenia 5
Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Bruising susceptibi... OMIM:616216
Vitreoretinochoroidopathy
Microcornea, Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretina... OMIM:193220
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Morm Syndrome
Cataract, Aggressive behavior, Retinal atrophy, Hyperactivity, Retinal dystrophy ORPHA:75858
Birdshot Chorioretinopathy
Cataract, Choroidal neovascularization, Abnormal chorioretinal morphology, Retinal thinning, Epir... ORPHA:179
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Abnormal fundus morph... ORPHA:39044
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice OMIM:613977
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Cataract, Optic atrophy, Exudative vitreoretinopathy, V... OMIM:143200
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, Abnormal bleeding, HbH hemoglobin, Bruising susceptibility, Microcytic anemia, Sp... ORPHA:231401
Phacoanaphylactic Uveitis
Anterior chamber flare grade 1+, Hypopyon, Macular edema, Posterior synechiae of the anterior cha... ORPHA:209959
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Abnorma... ORPHA:411527
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Optic atrophy, Macular degeneration, Concentric hypertrophic cardiomyopathy, Retinal de... OMIM:204200
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Pancytopenia, Anorexia, Neutrophilia, Tachycardia, Hepatomegaly, Jaundice, Pur... ORPHA:99827
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Fetal Cytomegalovirus Syndrome
Optic atrophy, Elevated circulating hepatic transaminase concentration, Hepatitis, Retinal hemorr... ORPHA:294
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Macular Degeneration, Age-Related, 1
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... OMIM:603075
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Galactosemia Iv
Hepatomegaly, Cataract, Prolonged neonatal jaundice OMIM:618881
Congenital Dyserythropoietic Anemia Type Iii
Gingival bleeding, Melena, Elevated circulating hepatic transaminase concentration, Increased mea... ORPHA:98870
Cone-Rod Dystrophy 16
Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh... OMIM:614500
Leber Congenital Amaurosis 1
Keratoconus, Pigmentary retinopathy, Cataract, Attenuation of retinal blood vessels, Eye poking, ... OMIM:204000
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Abnormal bleeding, Co... ORPHA:75564
Idiopathic Aplastic Anemia
Gingival bleeding, Epistaxis, Pancytopenia, Retinal hemorrhage, Ecchymosis, Reticulocytopenia, Th... ORPHA:88
Senior-Loken Syndrome
Cataract, Abnormality of retinal pigmentation, Congenital hepatic fibrosis, Ataxia, Hypertension,... ORPHA:3156
Leptospirosis
Hypotension, Hepatitis, Pulmonary hemorrhage, Macular cotton wool spot, Chorioretinitis, Conjunct... ORPHA:509
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Cataract, Hepatosplenomegaly OMIM:273680
Kaposiform Lymphangiomatosis
Epistaxis, Abnormal bleeding, Bruising susceptibility, Pancreatic cysts, Hepatosplenomegaly, Sple... ORPHA:464329
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity, Cataract OMIM:618660
Trimethylaminuria
Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension OMIM:602079
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Pulmonary embolism, Splenomegaly, Reticulocyto... OMIM:185000
Leber Congenital Amaurosis 2
Cataract, Keratoconus, Pigmentary retinopathy, Attenuation of retinal blood vessels, Eye poking, ... OMIM:204100
Coats Disease
Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ... ORPHA:190
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Broad-based gait, Dilated cardiomyopathy, Microcytic anemia, Hepatic steatosis, Pancrea... OMIM:618805
Glutathione Synthetase Deficiency
Pigmentary retinopathy, Hemolytic anemia, Neutropenia, Ataxia OMIM:266130
Retinitis Pigmentosa 40
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:613801
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Lujo Hemorrhagic Fever
Hypotension, Elevated circulating hepatic transaminase concentration, Shock, Lymphopenia, Leukope... ORPHA:319213
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spi... OMIM:613731
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Hypertrophic card... ORPHA:464321
Retinitis Pigmentosa 9
Cataract, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atr... OMIM:180104
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal... ORPHA:848
Leber Congenital Amaurosis 8
Cataract, Keratoconus, Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapilla... OMIM:613835
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Ataxia, ... OMIM:613839
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc... OMIM:261000
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Vitreous floaters, Lattice retinal degeneration, Retinal detachment, Peripheral vitreor... OMIM:614292
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Stickler Syndrome Type 2
Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity ORPHA:90654
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Retinitis Pigmentosa 84
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:618220
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hemogl... ORPHA:846
Hemochromatosis, Type 4
Cataract, Cardiomyopathy, Hepatic steatosis, Hepatomegaly, Arrhythmia, Cirrhosis, Anemia OMIM:606069
Microphthalmia, Isolated 5
Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Bone spicule pigmentation of th... OMIM:611040
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Lymphopenia, Excessive bleeding after a venipuncture, Anor... ORPHA:99826
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Elevated circulating hepatic transaminase concentration, Subconjunctival ... ORPHA:340
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia, Pericarditis ORPHA:163596
Refractory Anemia
Normocytic anemia, Abnormal bleeding, Anemia of inadequate production, Macrocytic anemia, Erythro... ORPHA:98826
Sickle Cell Anemia
Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen... ORPHA:232
Atelis Syndrome 2
Dysmetria, Attention deficit hyperactivity disorder, Vitreous hemorrhage, Developmental cataract,... OMIM:620185
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... OMIM:309300
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... OMIM:615285
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat... OMIM:613673
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Retinoblastoma
Hypopyon, Hyphema, Subretinal pigment epithelium hemorrhage, Abnormality of retinal pigmentation,... ORPHA:790
Beta-Thalassemia Intermedia
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Decreased liver functi... ORPHA:231222
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:616108
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Galactose Epimerase Deficiency
Hepatomegaly, Cataract, Jaundice, Splenomegaly ORPHA:79238
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Cardiomyopathy, Anorexia, Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopen... ORPHA:79312
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Second degree atrioventricular block, Extramedullary hematopoi... OMIM:617021
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Cataract, Abnormality of retinal pigmentation, Retinal detachment, Chorioretinal dy... OMIM:251270
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Pigmentary retinopathy, Abnormality of the liver, Rod-cone dystrophy, Ataxia OMIM:614307
Bone Marrow Failure Syndrome 3
Retinal dysplasia, Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin ... OMIM:617052
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Myh9-Related Disease
Elevated circulating hepatic transaminase concentration, Giant platelets, Bruising susceptibility... ORPHA:182050
Specific Granule Deficiency 1
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... OMIM:245480
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Retinal degeneration, Subcapsular catara... OMIM:600059
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Cataract, Nuclear cataract, Retinal exudate, Posterior vitreous deta... OMIM:616468
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ... OMIM:193230
Congenital Rubella Syndrome
Cataract, Splenomegaly, Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Hepa... ORPHA:290
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Bruising susceptibility, Abnormal optic nerve morphology, Leukocytosis, Splenomeg... ORPHA:3226
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume OMIM:620044
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Cataract, Chorioretinal coloboma, Posterior embryotoxon, Retinal detachment, Corne... ORPHA:1473
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract, Cardiomyopathy, Decreased liver function, Thrombocytopenia ORPHA:67048
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Abnormal bleeding, Palpitations, Leukocytosis, Anemia of inadeq... ORPHA:86839
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po... OMIM:620367
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Familial Acute Necrotizing Encephalopathy
Gait disturbance, Choroid hemorrhage ORPHA:88619
Waldenström Macroglobulinemia
Normocytic anemia, Ataxia, Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Epistaxis,... ORPHA:33226
Retinitis Pigmentosa And Erythrocytic Microcytosis
Macular edema, Peripheral retinal atrophy, Leukopenia, Epiretinal membrane, Elliptocytosis, Atten... OMIM:616959
Primary Familial Polycythemia
Epistaxis, Abnormal bleeding, Polycythemia, Abnormal hemoglobin ORPHA:90042
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Vasculitis, Hematochezia, Lymphocytosis, Thrombocytopenia, Vascul... OMIM:617718
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage, Peripheral retinal degeneration, Central retinal exudate OMIM:264420
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Juvenile Xanthogranuloma
Asymmetry of iris pigmentation, Myeloproliferative disorder, Hyphema, Iritis ORPHA:158000
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Pancytopenia, Abnormality of the liver, Macrocytic anemia, Neu... ORPHA:2169
Srd5A3-Cdg
Cataract, Optic atrophy, Elevated circulating hepatic transaminase concentration, Optic disc hypo... ORPHA:324737
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Optic atrophy, Myopic astigmatism, Astigmatism, Aggressive behavior, Atten... OMIM:152950
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Aplastic anemia, Abnormal bleeding, Hepatic failu... ORPHA:398124
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... ORPHA:90044
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Macular degeneration, Choroidal neovascu... OMIM:264800
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopenia, Thrombocytopen... OMIM:226990
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal exudate, Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentra... OMIM:192315
Galactose Mutarotase Deficiency
Cholestasis, Cataract, Decreased liver function, Hepatomegaly ORPHA:570422
Retinitis Pigmentosa 2
Cataract, Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degenerat... OMIM:312600
Dyskeratosis Congenita, Autosomal Dominant 1
Increased mean corpuscular volume, Aplastic anemia, Budd-Chiari syndrome, Lymphopenia, Leukopenia... OMIM:127550
Stickler Syndrome, Type V
Cataract, Retinal detachment, Vitreoretinopathy OMIM:614284
Rift Valley Fever
Gingival bleeding, Macular edema, Elevated circulating hepatic transaminase concentration, Abnorm... ORPHA:319251
Norrie Disease
Retinal fold, Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal strom... OMIM:310600
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Retinal vein occl... OMIM:177650
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Mitral regurgitation, Macrocytic anemia, Persistence of hemogl... OMIM:612561
Relapsing Fever
Epistaxis, Hypotension, Elevated circulating hepatic transaminase concentration, Abnormal bleedin... ORPHA:91547
Galactosemia I
Cataract, Decreased liver function, Elevated circulating aspartate aminotransferase concentration... OMIM:230400
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Infantile Refsum Disease
Cataract, Optic atrophy, Cardiomyopathy, Arrhythmia, Rod-cone dystrophy, Ataxia, Hepatomegaly ORPHA:772
Congenital Sialidosis Type 2
Cataract, Optic atrophy, Abnormal EKG, Cherry red spot of the macula, Hepatosplenomegaly, Petechi... ORPHA:93400
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Myopia 28, Autosomal Recessive
Cataract, Retinal detachment OMIM:619781
Chediak-Higashi Syndrome
Iris hypopigmentation, Ataxia, Hemophagocytosis, Bruising susceptibility, Ocular albinism, Leukop... OMIM:214500
Neuraminidase Deficiency
Cataract, Cardiomyopathy, Cherry red spot of the macula, Splenomegaly, Dysmetria, Hepatomegaly, V... OMIM:256550
Retinoblastoma
Retinoblastoma, Leukocoria, Vitreous hemorrhage, Leukemia, Retinal calcification, Vitritis OMIM:180200
Bardet-Biedl Syndrome 9
Cataract, Polydipsia, Attenuation of retinal blood vessels, Astigmatism, Retinal degeneration, Po... OMIM:615986
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Cataract, Giant cell hepatitis, Hematochezia, Cholelithiasis, Elevated... ORPHA:79095
Wolfram Syndrome 1
Cataract, Optic atrophy, Pigmentary retinopathy, Cardiomyopathy, Sideroblastic anemia, Megaloblas... OMIM:222300
Dominant Beta-Thalassemia
Hepatic fibrosis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Per... ORPHA:231226
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Cataract, Choroidal neovascularization, Chorioretinal scar, Posterior synechia... ORPHA:91500
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hepatic sinusoidal dilatation, Inability to walk, Tricuspid regurgitation, Retinal arterial tortu... OMIM:620371
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Beta-Thalassemia Major
Hepatic fibrosis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Per... ORPHA:231214
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy, Buphthal... OMIM:212550
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... OMIM:225200
Mevalonic Aciduria
Progressive cerebellar ataxia, Cataract, Nuclear cataract, Elevated circulating hepatic transamin... OMIM:610377
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Microcornea, Decreased mean corpuscular volume, Broad-based gait OMIM:616943
Juvenile Sialidosis Type 2
Cataract, Optic atrophy, Cherry red spot of the macula, Hepatosplenomegaly, Dysmetria, Loss of am... ORPHA:93399
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Cataract, Hepatosplenomegaly, Pancytopenia, Corneal opacity, Ataxia, Optic ... ORPHA:309288
Morning Glory Disc Anomaly
Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Microphthalmia/Coloboma 12
Peters anomaly, Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the... OMIM:120200
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Acute he... OMIM:619644
Retinal Arteries, Tortuosity Of
Retinal hemorrhage, Retinal arteriolar tortuosity OMIM:180000
Intermediate Uveitis
Cataract, Vasculitis, Band keratopathy, Posterior synechiae of the anterior chamber, Macular edem... ORPHA:279914
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia ORPHA:171844
Aniridia 2
Cataract, Optic atrophy, Aniridia, Lens subluxation, Iris coloboma OMIM:617141
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Optic atrophy, Dysmetria, Subcapsular cataract, Rod-cone dystrophy, Ataxia OMIM:612674
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Increased mean corpuscular volume, Mitral regurgitation, Astigmatism, Thr... ORPHA:261250
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Shwachman-Diamond Syndrome
Normocytic anemia, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Incr... ORPHA:811
Pierson Syndrome
Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Ri... OMIM:609049
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Retinal arteriolar tortuosity, Retinal hemorrhage, Raynaud phenomenon, Supraventricular arrhythmi... OMIM:611773
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Self-injurious behavior, Broad-based gait, Persistence of hemoglobin F, Limb ataxia, Recurrent ha... OMIM:617101
Congenital Disorder Of Glycosylation, Type Iic
Compulsive behaviors, Reduction of neutrophil motility, Neutrophilia OMIM:266265
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... OMIM:612109
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Cataract, Nuclear cataract, Stomatocytosis, Inability to walk, Splenomegaly, Ataxia, Hepatomegaly... OMIM:608885
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating hepatic transaminase concentration, Brain abscess, Neutrophilia, Anemia, Abn... ORPHA:54251
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hypotension, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chro... ORPHA:98849
Incontinentia Pigmenti
Cataract, Keratitis, Congestive heart failure, Cerebral ischemia, Retinal vascular proliferation,... ORPHA:464
Hereditary Methemoglobinemia
Methemoglobinemia, Athetosis ORPHA:621
Fuchs Heterochromic Iridocyclitis
Cataract, Chorioretinal scar, Corneal keratic precipitates, Epiretinal membrane, Retinal perforat... ORPHA:263479
Sympathetic Ophthalmia
Cataract, Macular edema, Anterior chamber cells, Posterior synechiae of the anterior chamber, Cor... ORPHA:79098
Cockayne Syndrome Type 3
Lentiglobus, Cataract, Microcornea, Elevated circulating hepatic transaminase concentration, Subd... ORPHA:90324
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Cataract, Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, P... ORPHA:394
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Spastic ataxia, Increased mean corpuscular volume OMIM:277410
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Eisenmenger Syndrome
Elevated jugular venous pressure, Hepatomegaly, Right ventricular failure, Tricuspid regurgitatio... ORPHA:97214
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume, Conjunctival tela... OMIM:619774
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Macular degeneration, Angioid streaks of the fundus, Angina pectoris... OMIM:177850
Acquired Methemoglobinemia
Palpitations, Methemoglobinemia, Arrhythmia, Syncope, Tachycardia ORPHA:464453
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Retinal vascular tortuosity, Hypoplasia... OMIM:106210
Shwachman-Diamond Syndrome 1
Elevated circulating hepatic transaminase concentration, Persistence of hemoglobin F, Exocrine pa... OMIM:260400
Incontinentia Pigmenti
Cataract, Optic atrophy, Keratitis, Leukocytosis, Hypoplasia of the fovea, Retinal vascular proli... OMIM:308300
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Acute Generalized Exanthematous Pustulosis
Elevated circulating hepatic transaminase concentration, Cholestasis, Leukocytosis, Eosinophilia,... ORPHA:293173
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612562
Cockayne Syndrome
Lentiglobus, Difficulty walking, Ataxia, Hepatomegaly, Optic disc pallor, Corneal ulceration, Ret... ORPHA:191
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... OMIM:300835
Werner Syndrome
Cataract, Elevated circulating aspartate aminotransferase concentration, Retinal degeneration, El... OMIM:277700
Isolated Aniridia
Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula ORPHA:250923
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Bruising susceptibility, HbH hemoglobin ORPHA:98791
Congenital Primary Aphakia
Corneal perforation, Optic disc coloboma, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affect... ORPHA:83461
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, Cataract, Hypochromic anemia, Ocular albinism, Ataxia, Abnormality of neut... ORPHA:2720
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, Granulomatosis, Retinal h... OMIM:608710
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Cataract, Microcornea, Broad-based gait, Optic atrophy, Hyphema, Ectopia p... ORPHA:261552
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ... OMIM:165550
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Bruising susceptibility, Retinopathy, An... ORPHA:758
Enhanced S-Cone Syndrome
Cataract, Pigmentary retinopathy, Macular edema, Vitreoretinopathy, Retinoschisis OMIM:268100
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Band keratopathy, Hepatitis, Exocrine pancreatic insufficiency, Keratoconjunctivitis, I... OMIM:269200
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Cataract, Gastrointestinal hemorrhage, Epistaxis, Abnormal bleeding, Bruis... ORPHA:79430
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Posterior synechiae of the anterior chamber, Epiretinal m... ORPHA:280921
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microcornea, Hypopigmentation of the fundus, Hypoplasia of the iris, Ectopia pupillae, Cerebral h... OMIM:175780
Chromosome 16Q12 Duplication Syndrome
Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m... OMIM:619649
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Neutropenia, Ataxia, Hepatomegaly, Dysphagia, Hypoplastic spleen... ORPHA:699
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Peters anomaly, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dy... OMIM:614643
Adult-Onset Still Disease
Neutrophilia, Elevated circulating hepatic transaminase concentration, Hepatitis, Leukocytosis, S... ORPHA:829
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Hematochezia, Hepatitis, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, M... OMIM:620565
Lethal Congenital Contracture Syndrome 5
Retinal hemorrhage, Subdural hemorrhage OMIM:615368
Hereditary Cryohydrocytosis With Reduced Stomatin
Spontaneous hemolytic crises, Cataract, Stomatocytosis, Hepatosplenomegaly, Zonular cataract, Ata... ORPHA:168577
Idiopathic Hypereosinophilic Syndrome
Hepatosplenomegaly, Chronic hepatitis, Neutrophilia, Myeloproliferative disorder, Dysphagia, Port... ORPHA:3260
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Lead Poisoning
Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Attention deficit hyperactivity diso... ORPHA:330015
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Norrie Disease
Self-injurious behavior, Cataract, Optic atrophy, Ectopia lentis, Hypoplasia of the iris, Abnorma... ORPHA:649
Staphylococcal Necrotizing Pneumonia
Hypotension, Shock, Leukopenia, Leukocytosis, Addictive alcohol use, Neutrophilia ORPHA:36238
Glutaryl-Coa Dehydrogenase Deficiency
Subdural hemorrhage, Ataxia, Retinal hemorrhage, Athetosis, Dysphagia ORPHA:25
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Astigmatism, Persistence of hemoglobin F OMIM:619769
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Psoriasis 14, Pustular
Cholangitis, Leukocytosis, Neutrophilia OMIM:614204
Trichinellosis
Abnormal optic nerve morphology, Central retinal artery occlusion, Conjunctival hyperemia, Retina... ORPHA:863
Cryptogenic Organizing Pneumonia
Anorexia, Leukocytosis, Neutrophilia ORPHA:1302
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Optic atrophy, Self-injurious behavior, Abnormal hemoglobin ORPHA:847
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Abnormal optic nerve morphology, Epiretinal membrane, Cortical ca... ORPHA:637
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Corneal scarring, Bradycardia, Retinal hemorrhage, Tachycardia, Hypertension OMIM:614653
Yellow Fever
Abnormal bleeding, Pancreatic hyperplasia, Shock, Reduced left ventricular ejection fraction, Ele... ORPHA:99829
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Blau Syndrome
Cataract, Keratitis, Abnormal optic nerve morphology, Large vessel vasculitis, Abnormality of the... ORPHA:90340
Leukocyte Adhesion Deficiency Type Ii
Ataxia, Keratitis, Microcytic anemia, Leukocytosis, Impaired tandem gait, Hepatomegaly, Neutrophi... ORPHA:99843
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Splenomegaly, Abscess, Neutrophilia OMIM:612852
Hyper-Igd Syndrome
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Rod-cone dystrophy, Neutrophilia, Optic disc pallor OMIM:260920
Thymoma
Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis ORPHA:99867
Sweet Syndrome
Dilated cardiomyopathy, Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Sterile... ORPHA:3243
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, Motor stereotypy, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased proportion of CD4-positive T cells, Vasculitis, Leukocytosis, Neutrophilia OMIM:617099
Alkaptonuria
Aortic valve stenosis, Black pigment gallstones, Mitral regurgitation, Mitral stenosis, Hypertens... ORPHA:56
Familial Mediterranean Fever
Leukocytosis, Splenomegaly, Peritonitis, Neutrophilia, Hepatomegaly, Pericarditis OMIM:249100
Neuroocular Syndrome 1
Cataract, Microcornea, Peters anomaly, Hypoplasia of the fovea, Attention deficit hyperactivity d... OMIM:619539
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Subretinal pigment epithelium hemorrhage ORPHA:357074
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Microphthalmia, Syndromic 2
Aortic valve stenosis, Microcornea, Retinal detachment, Developmental cataract, Remnants of the h... OMIM:300166
Generalized Arterial Calcification Of Infancy
Choroidal neovascularization, Transient ischemic attack, Left ventricular systolic dysfunction, A... ORPHA:51608
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Holoprosencephaly 2
Iris coloboma, Remnants of the hyaloid vascular system, Chorioretinal coloboma 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
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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