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Gene: Rasgrp4 MGI:2386851

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Gene Summary

Name:
RAS guanyl releasing protein 4
Synonyms:
N/A

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
increased mean platelet volume Rasgrp4tm2a(KOMP)Wtsi HOM Early adult 9.35×10-05
abnormal retina morphology Rasgrp4tm2a(KOMP)Wtsi HOM   Early adult 7.71×10-06

Download data as:  TSV  XLS

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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 Lateral Orientation

15 Images

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X-ray

XRay Images Skull Lateral Orientation

13 Images

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X-ray

XRay Images Forepaw

13 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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Legacy Phenotype Associated Images
Rasgrp4tm2a(KOMP)Wtsi
HOM, Male, WTSI
Rasgrp4tm2a(KOMP)Wtsi
HOM, Male, WTSI
Rasgrp4tm2a(KOMP)Wtsi
HOM, Male, WTSI
Rasgrp4tm2a(KOMP)Wtsi
HOM, Male, WTSI
Rasgrp4tm2a(KOMP)Wtsi
HOM, Female, WTSI

View all 69 images

Rasgrp4tm2a(KOMP)Wtsi
right eye, abnormal retinal blood vessel morphology, HOM, Male, WTSI
Rasgrp4tm2a(KOMP)Wtsi
abnormal retinal pigmentation, HOM, Male, WTSI
Rasgrp4tm2a(KOMP)Wtsi
abnormal retinal pigmentation, HOM, Male, WTSI
Rasgrp4tm2a(KOMP)Wtsi
abnormal primary vitreous morphology, HOM, Female, WTSI

Human diseases caused by Rasgrp4 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 Rasgrp4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, ... OMIM:187800
Retinoschisis, Autosomal Dominant
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation OMIM:180270
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... OMIM:619271
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Stargardt Disease 1
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa OMIM:248200
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Reduced natur... OMIM:619374
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Sebastian syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:605249
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Giant platelets, Macrothrombocytopenia OMIM:600208
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Osteoarthritis Susceptibility 3
Osteoarthritis of the first carpometacarpal joint, Osteoarthritis, Osteoarthritis of the distal i... OMIM:607850
Glycoprotein Storage Disease
Gout OMIM:232900
Macular Degeneration, Age-Related, 13
Macular scar, Drusen, Macular degeneration, Choroidal neovascularization OMIM:615439
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Chondrocalcinosis 2
Osteoarthritis, Arthropathy, Polyarticular chondrocalcinosis OMIM:118600
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Exudative Vitreoretinopathy 7
Retinal hole, Vitreoretinopathy, Retinal degeneration OMIM:617572
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Autoimmunity, Nephritis, Arthritis OMIM:216950
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:155100
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Enlarged joints, Synovitis ORPHA:50809
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Synovitis OMIM:609655
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... OMIM:618986
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Myh9-Related Disease
Congenital thrombocytopenia, Giant platelets, Increased mean platelet volume, Neutrophil inclusio... ORPHA:182050
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Delayed ossification of carpal bones, Premature osteoarthritis, Hyperextensib... OMIM:105835
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Kienbock Disease
Limitation of joint mobility, Osteoarthritis, Osteochondritis Dissecans, Abnormality of the wrist ORPHA:97332
Bernard-Soulier Syndrome
Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Giant platelets OMIM:231200
Fechtner syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:153640
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,... OMIM:180210
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Neutropenia, Abnormal platelet granules ORPHA:238459
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Cone/cone-rod dystrophy, Cone dystrophy, Retinal detachment OMIM:304030
Macular Degeneration, Age-Related, 1
Macular hemorrhage, Choroidal neovascularization, Macular drusen, Foveal hypopigmentation, Macula... OMIM:603075
Coloboma Of Optic Nerve
Retinal detachment OMIM:120430
Retinal Detachment
Retinal detachment OMIM:180050
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms, Retinal detachment OMIM:614224
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Rod-cone dystrophy, Retinal degeneration OMIM:600059
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... ORPHA:179
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ADP-induced platelet aggregation, Impaired collagen-ind... OMIM:619130
Late-Onset Retinal Degeneration
Retinopathy, Rod-cone dystrophy, Retinal degeneration, Sub-RPE deposits OMIM:605670
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly OMIM:153670
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Constrictive pericarditis, Congenital finger flexion contractures, Wrist flexion contracture, Gen... OMIM:208250
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Retinitis Pigmentosa 70
Optic disc pallor, Rod-cone dystrophy, Retinal degeneration OMIM:615922
Retinitis Pigmentosa 50
Retinal flecks, Attenuation of retinal blood vessels, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Sitosterolemia 1
Impaired platelet aggregation, Episodic hemolytic anemia, Chronic hemolytic anemia, Stomatocytosi... OMIM:210250
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration, Acanthocytosis OMIM:615558
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Congenital Atransferrinemia
Arthritis ORPHA:1195
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... OMIM:616468
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Reduction of neutrophil motility OMIM:266265
Sjogren Syndrome
Autoimmunity, Rheumatoid arthritis, Xerostomia, Keratoconjunctivitis sicca, Tubulointerstitial ne... OMIM:270150
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Neutropenia, Thrombocytopenia,... OMIM:169400
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Granuloma ORPHA:542592
Cutaneous Mastocytoma
Cutaneous mastocytosis ORPHA:79455
Irvan Syndrome
Tractional retinal detachment, Vitreous floaters, Retinal exudate, Retinal detachment, Optic atro... ORPHA:209943
Familial Calcium Pyrophosphate Deposition
Joint swelling, Chondrocalcinosis, Joint dislocation, Osteoarthritis, Limitation of joint mobilit... ORPHA:1416
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Arthritis OMIM:613217
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral... OMIM:305390
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Rheumatoid arthritis, Systemic lupus erythematosus, Antinuclear antibody positivity OMIM:178610
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Achalasia, Familial Esophageal
Xerostomia, Rheumatoid arthritis, Keratoconjunctivitis sicca, Achalasia OMIM:200400
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis OMIM:271600
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Impaired neutrophil bactericidal activity, Spontaneous hemolytic... OMIM:613470
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Abnormal mast cell morphology, Mastocytosis, Splenomegaly ORPHA:98848
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots, Retinal detachment OMIM:193230
Shwachman-Diamond Syndrome
Chronic neutropenia, Neutropenia, Impaired neutrophil chemotaxis, Normocytic anemia, Pancytopenia... ORPHA:811
Diverticulosis, Small-Intestinal
Thyroiditis, Rheumatoid arthritis, Ulcerative colitis OMIM:223320
Felty Syndrome
Rheumatoid arthritis OMIM:134750
Psoriasis 1, Susceptibility To
Psoriasiform dermatitis, Arthritis OMIM:177900
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Osteoarthritis ORPHA:435804
Interstitial Granulomatous Dermatitis With Arthritis
Rheumatoid arthritis, Rheumatoid factor positive, Inflammatory abnormality of the skin ORPHA:79099
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Colitis, Cystic acne, Knee flexion contracture, Sterile arthritis, Elbow flexion contracture, Acn... OMIM:604416
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Optic atrophy, Increased mean platelet volume OMIM:616737
Secondary Non-Traumatic Avascular Necrosis
Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus, Limitation of joint mobility ORPHA:399180
Thrombocytopenia 1
Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital thrombocytopenia OMIM:313900
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Retinal exudate, Poster... OMIM:133780
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Giant platelets, Decreased platelet glycoprotei... ORPHA:274
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Vitreoretinopathy, Ret... OMIM:193235
Cranio-Osteoarthropathy
Abnormality of the knee, Joint swelling, Joint stiffness, Eczema, Osteoarthritis, Arthritis ORPHA:1525
Systemic Lupus Erythematosus
Systemic lupus erythematosus, Pericarditis, Lupus nephritis, Malar rash, Antinuclear antibody pos... OMIM:152700
Systemic Lupus Erythematosus, Susceptibility To, 6
Systemic lupus erythematosus, Pericarditis, Malar rash, Antinuclear antibody positivity, Arthritis OMIM:609939
Say-Barber-Miller Syndrome
Decreased circulating antibody level, Impaired neutrophil chemotaxis, Abnormal T cell morphology,... ORPHA:3132
Oligoarticular Juvenile Idiopathic Arthritis
Joint hypermobility, Autoimmunity, Rheumatoid arthritis, Uveitis, Oligoarthritis, Knee osteoarthr... ORPHA:85410
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280785
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Increased inflammatory response, Myositis, Crohn's disease, Limitation of joint mobility... ORPHA:69126
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Lymphopenia, Impaired oxidative burst, Granuloma, Perianal abscess, Splenomegal... OMIM:618935
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Impaired neutrophil bactericidal activity, Neutropenia... OMIM:214500
Retinitis Pigmentosa And Erythrocytic Microcytosis
Photoreceptor layer loss on macular OCT, Retinal atrophy, Elliptocytosis, Retinal pigment epithel... OMIM:616959
Vertical Talus, Congenital
Arthritis OMIM:192950
Spondyloarthropathy, Susceptibility To, 1
Inflammation of the large intestine, Hip osteoarthritis, Enthesitis, Psoriasiform dermatitis, Oli... OMIM:106300
Lathosterolosis
Increased mean platelet volume, Anisopoikilocytosis, Acanthocytosis, Hepatosplenomegaly, Schistoc... OMIM:607330
Subcorneal Pustular Dermatosis
Autoimmunity, Pustule, Rheumatoid arthritis, Systemic lupus erythematosus ORPHA:48377
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Trichohepatoenteric Syndrome 1
Thrombocytosis, Increased mean platelet volume OMIM:222470
Rheumatoid Arthritis
Joint swelling, Rheumatoid arthritis, Anti-citrullinated protein antibody positivity, Rheumatoid ... OMIM:180300
Syndromic Diarrhea
Thrombocytosis, Lymphopenia, Increased mean platelet volume, Hypoplasia of the thymus, Splenomegaly ORPHA:84064
Systemic-Onset Juvenile Idiopathic Arthritis
Skin rash, Joint swelling, Pericarditis, Autoimmunity, Juvenile rheumatoid arthritis, Anterior uv... ORPHA:85414
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopen... ORPHA:98850
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Iridocyclitis, Abnormal hip joint morphology, Joint swelling, Hip osteoarthritis, Flexion contrac... ORPHA:85408
Leukocyte Adhesion Deficiency
Impaired platelet aggregation, Thrombocytosis, Leukocytosis, Polycythemia, Impaired neutrophil ch... ORPHA:2968
Chédiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Hemophagocytosis, Vacuolated lymphocytes, Abnormal natu... ORPHA:167
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Optic atrophy, Increased mean platelet volume ORPHA:487796
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia, Macrothrombocytopenia OMIM:603585
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Hemolytic anemia, Lymphopenia, Thrombocyt... OMIM:600903
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... ORPHA:98849
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Chronic oral candidiasis, Autoimmunity, Hashimoto thyroiditis, Juvenile rheumatoid art... ORPHA:275
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Rheumatoid arthritis, Myositis ORPHA:48104
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Impaired oxidative burst, Rectal abscess, Splenomegaly, Liver abscess, Granulomatosis OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Impaired oxidative burst, Rectal abscess, Splenomegaly, Liver abscess, Granulomatosis OMIM:233710
Sapho Syndrome
Inflammation of the large intestine, Skin rash, Pustule, Osteolysis, Abnormal sacroiliac joint mo... ORPHA:793
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Impaired oxidative burst, Rectal abscess, Splenomegaly, Liver abscess, Granulomatosis OMIM:233690
Granulomatous Disease, Chronic, X-Linked
Impaired oxidative burst, Rectal abscess, Splenomegaly, Liver abscess, Granulomatosis OMIM:306400
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Decreased proportion of CD8-positive T ce... OMIM:301000
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Increased proportion of CD25+... ORPHA:2442
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Chronic sinusitis, Recurrent vulvovaginal candidiasis, Otitis ... ORPHA:331235
Gamma-Heavy Chain Disease
Skin rash, Osteolysis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Dysphagia, Rheum... ORPHA:100026
Myasthenia Gravis
Systemic lupus erythematosus, Muscle specific kinase antibody positivity, Dysphagia, Rheumatoid a... ORPHA:589
Autoimmune Polyendocrinopathy Type 4
Iridocyclitis, Autoimmune thrombocytopenia, Autoimmunity, Rheumatoid arthritis, Chronic atrophic ... ORPHA:227990
Autoimmune Polyendocrinopathy Type 3
Iridocyclitis, Autoimmune thrombocytopenia, Autoimmunity, Rheumatoid arthritis, Hashimoto thyroid... ORPHA:227982
Mastocytosis
Acute leukemia, Chronic leukemia, Mastocytosis, Splenomegaly ORPHA:98292
Spondyloenchondrodysplasia With Immune Dysregulation
Systemic lupus erythematosus, Joint swelling, Autoimmune thrombocytopenia, Autoimmunity, Rheumato... OMIM:607944
Igg4-Related Retroperitoneal Fibrosis
Anti-thyroid peroxidase antibody positivity, Systemic lupus erythematosus, Antineutrophil antibod... ORPHA:49041
Hereditary Xanthinuria
Gout, Rheumatoid arthritis, Arthropathy ORPHA:3467
Hennekam-Beemer Syndrome
Mastocytosis ORPHA:2135
Pmm2-Cdg
Impaired neutrophil chemotaxis ORPHA:79318
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Rheumatoid arthritis, Granulomatous coronary arteritis, Iritis OMIM:108050

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 Rasgrp4

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 Rasgrp4.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Rasgrp4tm2a(KOMP)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Rasgrp4tm2a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Rasgrp4tm2a(KOMP)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017)