Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal skin morphology Adgrl4em1(IMPC)Mbp HOM Early adult 0.00
abnormal vitreous body morphology Adgrl4em1(IMPC)Mbp HOM Early adult 4.96×10-05
decreased mean corpuscular volume Adgrl4em1(IMPC)Mbp HOM Early adult 3.05×10-06
increased neutrophil cell number Adgrl4em1(IMPC)Mbp HOM Early adult 1.29×10-05
decreased mean corpuscular hemoglobin Adgrl4em1(IMPC)Mbp HOM   Early adult 6.31×10-05
eye hemorrhage Adgrl4em1(IMPC)Mbp HOM   Early adult 1.56×10-05
increased vertical activity Adgrl4em1(IMPC)Mbp HOM Early adult 7.27×10-05
small liver Adgrl4em1(IMPC)Mbp HOM Early adult 0.00
cataract Adgrl4em1(IMPC)Mbp HOM Early adult 9.22×10-05
abnormal eye morphology Adgrl4em1(IMPC)Mbp HOM Early adult 0.00
abnormal liver morphology Adgrl4em1(IMPC)Mbp HOM Early adult 0.00
abnormal retina morphology Adgrl4em1(IMPC)Mbp HOM Early adult 7.54×10-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

3 Images

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
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Macular atrophy, Mizuo p... OMIM:312700
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Retinopathy Of Prematurity
Tractional retinal detachment, Retinal arteriolar tortuosity, Abnormal retinal vascular morpholog... ORPHA:90050
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Cataract, Rhegmatogenous retinal detachment, Peripheral ... ORPHA:891
Exudative Vitreoretinopathy 4
Peripheral retinal avascularization, Posterior vitreous detachment, Vitreous hemorrhage, Exudativ... OMIM:601813
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... OMIM:133780
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Hemoglobin H Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy, Cataract ORPHA:79281
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Retinal Capillary Malformation
Subretinal exudate, Central fundal arteriolar microaneurysms, Vitreous floaters, Epiretinal membr... ORPHA:71213
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Tran... ORPHA:40923
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia ORPHA:231393
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Hyphema, Leukocoria, Microcor... OMIM:221900
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... OMIM:193220
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Thrombocytopenia 5
Petechiae, Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscula... OMIM:616216
Uveal Melanoma
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... ORPHA:39044
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Choroidal neovascularization, Abnormal chorioret... ORPHA:179
Cyanosis, Transient Neonatal
Hepatomegaly, Reticulocytosis, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Wagner Vitreoretinopathy
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti... OMIM:143200
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Vitreoretinopathy, Neovascular Inflammatory
Retinal detachment, Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Po... OMIM:193235
Alpha-Thalassemia-Myelodysplastic Syndrome
Abnormal bleeding, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising suscept... ORPHA:231401
Phacoanaphylactic Uveitis
Hypopyon, Keratitis, Abnormal pupil morphology, Hyphema, Abnormal corneal endothelium morphology,... ORPHA:209959
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Vacuolated lymphocytes, Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular ... OMIM:204200
Sickle Cell Anemia
Pigment gallstones, Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the sple... ORPHA:232
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... ORPHA:411527
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Pulmonary embolism, Vitreous hemorrhage, Purpura OMIM:612304
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Anorexia, Abnormal left ventricular function, Leukopenia, Conjunctivitis, Ch... ORPHA:99827
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Morm Syndrome
Hyperactivity, Cataract, Retinal dystrophy, Retinal atrophy, Aggressive behavior ORPHA:75858
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Portal vei... ORPHA:3202
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... OMIM:614500
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Post-partum hemorrh... ORPHA:98870
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Ataxia, Retinal dystrophy, Congenital hepatic fibr... ORPHA:3156
Acquired Idiopathic Sideroblastic Anemia
Abnormal bleeding, Hepatomegaly, Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia ... ORPHA:75564
Leber Congenital Amaurosis 1
Keratoconus, Hepatomegaly, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, E... OMIM:204000
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Leptospirosis
Hepatomegaly, Pericarditis, Papilledema, Macular cotton wool spot, First degree atrioventricular ... ORPHA:509
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pancreatic cysts, Splenomegaly, Thrombocytopen... ORPHA:464329
Trimethylaminuria
Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia OMIM:602079
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Gingival bleedi... ORPHA:88
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom... OMIM:185000
Coats Disease
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... ORPHA:190
Glutathione Synthetase Deficiency
Hemolytic anemia, Ataxia, Pigmentary retinopathy, Neutropenia OMIM:266130
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Broad-based gait, Cataract, Reduced systolic function, Microcytic anemia, Elevated ... OMIM:618805
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... OMIM:204100
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Shock, Excessive bleeding after a venipuncture, Myocarditis, Fulmi... ORPHA:319213
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Retinitis Pigmentosa 40
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo... OMIM:613801
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c... OMIM:613731
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin... ORPHA:464321
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... OMIM:180104
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Ataxia, Megaloblastic anemia, Jaundice, Increased mean corpuscular vo... OMIM:613839
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ... ORPHA:848
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... OMIM:614292
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:613835
Hemochromatosis, Type 4
Hepatomegaly, Cataract, Cardiomyopathy, Cirrhosis, Arrhythmia, Hepatic steatosis, Anemia OMIM:606069
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... OMIM:618220
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy ORPHA:90654
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Marburg Hemorrhagic Fever
Anorexia, Leukopenia, Conjunctival hyperemia, Abnormal lymphocyte morphology, Internal hemorrhage... ORPHA:99826
Hemorrhagic Fever-Renal Syndrome
Elevated hepatic transaminase, Shock, Tachycardia, Epistaxis, Hematemesis, Thrombocytopenia, Leuk... ORPHA:340
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... OMIM:611040
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia ORPHA:163596
Refractory Anemia
Abnormal bleeding, Normocytic anemia, Abnormal cardiac ventricular function, Macrocytic anemia, A... ORPHA:98826
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Thrombocytopenia, Dysmetria, Supravalvar pulmonary steno... OMIM:620185
Beta-Thalassemia Intermedia
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hemolyti... OMIM:613673
Retinoblastoma
Hypopyon, Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema,... ORPHA:790
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ... OMIM:616108
Maternally-Inherited Diabetes And Deafness
Cataract, Ataxia, Abnormal chorioretinal morphology, Congestive heart failure, Hypertension, Arrh... ORPHA:225
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia OMIM:618660
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Ataxia, Pigmentary retinopathy, Abnormality of the liver, Rod-cone dystrophy OMIM:614307
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice, Cataract ORPHA:79238
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Hypertension, Second degree... OMIM:617021
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Anorexia, Splenomegaly, Thrombocytopenia, Optic atrophy, Choreoathetosis, Cardiomyo... ORPHA:79312
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Hyperactivity, Pancytopenia, Aplastic anemia, Retinal dystrophy, Pancreat... OMIM:617052
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc pallor, Chorioretin... OMIM:251270
Myh9-Related Disease
Elevated hepatic transaminase, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Myocard... ORPHA:182050
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Retinal dystrophy, Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Ch... ORPHA:231736
Exudative Vitreoretinopathy 6
Retinal detachment, Cataract, Patchy atrophy of the retinal pigment epithelium, Chorioretinal atr... OMIM:616468
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o... OMIM:600059
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acu... ORPHA:3226
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... OMIM:193230
Congenital Rubella Syndrome
Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Jaund... ORPHA:290
3-Methylglutaconic Aciduria Type 4
Cataract, Cardiomyopathy, Decreased liver function, Thrombocytopenia, Iris hypopigmentation ORPHA:67048
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e... ORPHA:1473
Refractory Anemia With Excess Blasts
Abnormal bleeding, Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal... ORPHA:86839
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Hepatomegaly, Normocytic anemia, Ataxia, Epistaxis, Anorexia, Abnorm... ORPHA:33226
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage, Gait disturbance ORPHA:88619
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Cln3 Disease
Cataract, Ataxia, Bull's eye maculopathy, Aggressive behavior, Vacuolated lymphocytes, Optic atro... ORPHA:228346
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hepatomegaly, Abnormal bleeding, Prolonged QT interval, Aplastic a... ORPHA:398124
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Vasculitis, Decreased mean platelet volume, Hematochezia, Subconjunctival hemorrhage, Lymphocytos... OMIM:617718
Juvenile Xanthogranuloma
Hyphema, Myeloproliferative disorder, Iritis, Asymmetry of iris pigmentation ORPHA:158000
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage OMIM:264420
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Hypertension, Abnormality of the liver, Increased mean corpuscul... ORPHA:2169
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Aggressive behavior, Chor... OMIM:152950
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Primary Familial Polycythemia
Abnormal bleeding, Polycythemia, Epistaxis, Abnormal hemoglobin ORPHA:90042
Familial Pseudohyperkalemia
Reticulocytosis, Hypertension, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... OMIM:226990
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Choroidal neovascularization, Congestive heart fail... OMIM:264800
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Raynaud phenomenon, Micronodular cirr... OMIM:192315
Galactose Mutarotase Deficiency
Hepatomegaly, Cataract, Decreased liver function, Cholestasis ORPHA:570422
Srd5A3-Cdg
Elevated hepatic transaminase, Cataract, Ataxia, Optic disc hypoplasia, Microcytic anemia, Optic ... ORPHA:324737
Retinitis Pigmentosa 2
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... OMIM:312600
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Aggressive behavior, Optic atrophy, Leukocoria, Hy... OMIM:310600
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Ataxia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Increased mean corpuscul... OMIM:127550
Rift Valley Fever
Elevated hepatic transaminase, Abnormal bleeding, Retinitis, Anorexia, Hematemesis, Thrombocytope... ORPHA:319251
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Mitral regurgitation, Increased mean corpuscular volume, Macrocytic ... OMIM:612561
Infantile Refsum Disease
Hepatomegaly, Cataract, Ataxia, Optic atrophy, Cardiomyopathy, Arrhythmia, Rod-cone dystrophy ORPHA:772
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Spontaneous, recurrent epistaxis, Ataxia... OMIM:214500
Relapsing Fever
Elevated hepatic transaminase, Abnormal bleeding, Tachycardia, Neutrophilia, Epistaxis, Thrombocy... ORPHA:91547
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Hepatomegaly, Abnormal EKG, Cataract, Ataxia, Corneal opacity, Optic atr... ORPHA:93400
Wolfram Syndrome 1
Sideroblastic anemia, Cataract, Ataxia, Megaloblastic anemia, Optic atrophy, Cardiomyopathy, Pigm... OMIM:222300
Retinoblastoma
Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma, Leukemia OMIM:180200
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Neuraminidase Deficiency
Hepatomegaly, Cataract, Bone-marrow foam cells, Splenomegaly, Vacuolated lymphocytes, Dysmetria, ... OMIM:256550
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Cataract, Ataxia, Hematochezia, Pigmentary r... ORPHA:79095
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Cataract, Astigmatism, Polydipsia, Rod-cone dystrophy, P... OMIM:615986
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascu... ORPHA:91500
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Galactosemia I
Hepatomegaly, Hemolytic anemia, Cataract, Elevated circulating aspartate aminotransferase concent... OMIM:230400
Stickler Syndrome, Type V
Retinal detachment, Cataract, Vitreoretinopathy OMIM:614284
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Li... ORPHA:2334
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... OMIM:212550
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Hepatosplenomeg... OMIM:619644
Mevalonic Aciduria
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Optic disc pallor, Cataract, Ataxia... OMIM:610377
Juvenile Sialidosis Type 2
Hepatomegaly, Cataract, Ataxia, Corneal opacity, Optic atrophy, Dysmetria, Hepatosplenomegaly, Dy... ORPHA:93399
Intermediate Uveitis
Cataract, Macular scar, Band keratopathy, Vitreous haze, Epiretinal membrane, Vitreous floaters, ... ORPHA:279914
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Optic disc pallor, Pancytopenia, Cataract, Ataxia, Corneal opacity, Hepatos... ORPHA:309288
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... OMIM:120200
Retinal Arteries, Tortuosity Of
Retinal arteriolar tortuosity, Retinal hemorrhage OMIM:180000
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Retinal dystrophy, Macular coloboma, Prolonged neonatal jaundice, Aplasia/Hypo... ORPHA:423479
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Dilated cardiomyopathy, Mitral regurgitation, Increased mean corpuscular ... ORPHA:261250
Shwachman-Diamond Syndrome
Elevated hepatic transaminase, Hepatomegaly, Normocytic anemia, Transient neutropenia, Aplastic a... ORPHA:811
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Pierson Syndrome
Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya... OMIM:609049
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Ataxia, Rod-cone dystrophy, Optic atrophy, Dysmetria, Subcapsular cataract OMIM:612674
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Supraventricular arrhythmia, Raynaud phenomenon, Retinal arteriolar tortuosity, Retinal hemorrhag... OMIM:611773
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pan... ORPHA:54251
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Broad-based gait, Limb ataxia, Persistence of hemoglobin F, Self-injurious behavior, Truncal atax... OMIM:617101
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Tachycardia, Neutrophilia, Acute myeloid leukemia, Eosinophilia,... ORPHA:98849
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Compulsive behaviors, Reduction of neutrophil motility OMIM:266265
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Rod-cone dystrophy, Cataract OMIM:619082
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Hemolytic anemia, Cataract, Ataxia, Splenomegaly, Jaundice, Inability to walk, Nucl... OMIM:608885
Incontinentia Pigmenti
Retinal detachment, Cataract, Telangiectasia of the skin, Eosinophilia, Corneal opacity, Abnormal... ORPHA:464
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c... OMIM:612109
Hereditary Methemoglobinemia
Athetosis, Methemoglobinemia ORPHA:621
Sympathetic Ophthalmia
Papilledema, Retinal detachment, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... ORPHA:79098
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Developmental glaucoma, Reti... ORPHA:124
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... ORPHA:263479
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Hepatomegaly, Optic disc pallor, Cataract, Retinal atrophy, Retina... ORPHA:90324
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Eisenmenger Syndrome
Ventricular tachycardia, Iron deficiency anemia, Abnormality of the liver, Supraventricular tachy... ORPHA:97214
Classic Homocystinuria
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Cataract, Retinal detac... ORPHA:394
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Spastic ataxia, Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Immunodeficiency 96
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu... OMIM:619774
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal hemorrhage, Angioid st... OMIM:177850
Acquired Methemoglobinemia
Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia ORPHA:464453
Incontinentia Pigmenti
Hypoplasia of the fovea, Retinal detachment, Cataract, Eosinophilia, Keratitis, Retinal vascular ... OMIM:308300
Shwachman-Diamond Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytopen... OMIM:260400
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Splenomegaly, Myocarditi... ORPHA:829
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Acute Generalized Exanthematous Pustulosis
Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Conjunctivi... ORPHA:293173
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... ORPHA:67043
Werner Syndrome
Cataract, Elevated hemoglobin A1c, Elevated circulating aspartate aminotransferase concentration,... OMIM:277700
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612562
Cockayne Syndrome
Progressive gait ataxia, Lentiglobus, Retinal arteriolar constriction, Retinal degeneration, Hepa... ORPHA:191
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Bruising susceptibility, HbH hemoglobin, Microcytic anemia ORPHA:98791
Isolated Aniridia
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Oculocerebral Hypopigmentation Syndrome, Preus Type
Cataract, Ataxia, Abnormality of neutrophils, Ocular albinism, Hypochromic anemia, Iris hypopigme... ORPHA:2720
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Keratitis, Retinal hemorrhage, Localized pulmonary hemorrhage, Granu... OMIM:608710
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Iris atrophy, Broad-based gait, Cataract, Asplenia, Inability to walk, Abnormal pupil morphology,... ORPHA:261552
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... ORPHA:758
Diamond-Blackfan Anemia 1
Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive heart failure, R... OMIM:105650
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Band keratopathy, Asplenia, Hepatitis, Chronic hepatitis, Keratoconjunctivitis, Iron de... OMIM:269200
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Vi... ORPHA:280921
Enhanced S-Cone Syndrome
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis OMIM:268100
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Corneal opacity, Cerebral hemorrhage, Retinal arteriolar tortuosity, Polycoria,... OMIM:175780
Pearson Syndrome
Abnormality of the liver, Neutropenia, Hepatic steatosis, Hepatomegaly, Reticulocytosis, Ataxia, ... ORPHA:699
Hermansky-Pudlak Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Cataract, Epistaxis, Anorexia, Ocular albinism, C... ORPHA:79430
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... OMIM:614643
Lethal Congenital Contracture Syndrome 5
Subdural hemorrhage, Retinal hemorrhage OMIM:615368
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Hereditary Cryohydrocytosis With Reduced Stomatin
Spontaneous hemolytic crises, Ataxia, Cataract, Jaundice, Hepatosplenomegaly, Stomatocytosis, Zon... ORPHA:168577
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Neutrophilia, Raynaud phenomenon, Leuko... ORPHA:3260
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... ORPHA:649
Lead Poisoning
Anorexia, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Hypertension, Attention de... ORPHA:330015
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Glutaryl-Coa Dehydrogenase Deficiency
Ataxia, Subdural hemorrhage, Retinal hemorrhage, Athetosis, Dysphagia ORPHA:25
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Astigmatism OMIM:619769
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Staphylococcal Necrotizing Pneumonia
Shock, Neutrophilia, Leukocytosis, Leukopenia, Addictive alcohol use, Hypotension ORPHA:36238
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia, Cholangitis OMIM:614204
Trichinellosis
Retinal hemorrhage, Central retinal artery occlusion, Anisocoria, Conjunctivitis, Abnormal optic ... ORPHA:863
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor OMIM:619649
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Optic atrophy, Abnormal hemoglobin, Anemia ORPHA:847
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Posterior subcap... ORPHA:637
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Anorexia ORPHA:1302
Yellow Fever
Abnormal bleeding, Shock, Acute pancreatitis, Neutrophilia, Elevated circulating aspartate aminot... ORPHA:99829
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Retinal hemorrhage, Corneal scarring, Hypertension, Bradycardia OMIM:614653
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Blau Syndrome
Pericarditis, Cataract, Keratitis, Splenomegaly, Retrobulbar optic neuritis, Abnormal retinal vas... ORPHA:90340
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Neutrophilia, Ataxia, Microcytic anemia, Keratitis, Leukocytosis, Impaired tandem g... ORPHA:99843
Hyper-Igd Syndrome
Optic disc pallor, Neutrophilia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Rod-cone dystrophy OMIM:260920
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Splenomegaly, Hepatomegaly, Neutrophilia, Abscess OMIM:612852
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Leukocytosis, Dilated cardiomyopathy, Chronic lymphatic leu... ORPHA:3243
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, Abnormal repetitive mannerisms, HbH hemoglobin, Hypochromic m... OMIM:301040
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Vasculitis, Increased proportion of CD4-positive T cells OMIM:617099
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Splenomegaly, Peritonitis, Leukocytosis OMIM:249100
Neuroocular Syndrome
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len... OMIM:619539
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Subretinal pigment epithelium hemorrhage ORPHA:357074
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system, Developmental cataract, Microcornea,... OMIM:300166
Generalized Arterial Calcification Of Infancy
Transient ischemic attack, Choroidal neovascularization, Abnormal retinal artery morphology, Reti... ORPHA:51608
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Iris coloboma, 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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