Gene Summary

Name:
Rho GTPase activating protein 30
Synonyms:
6030405P05Rik

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
decreased circulating fructosamine level Arhgap30tm1a(EUCOMM)Wtsi HOM   Early adult 7.72×10-05
decreased leukocyte cell number Arhgap30tm1a(EUCOMM)Wtsi HOM Early adult 4.13×10-05
decreased circulating serum albumin level Arhgap30tm1a(EUCOMM)Wtsi HOM   Early adult 7.10×10-06
decreased mean corpuscular hemoglobin Arhgap30tm1a(EUCOMM)Wtsi HOM Early adult 3.43×10-15
increased red blood cell distribution width Arhgap30tm1a(EUCOMM)Wtsi HOM   Early adult 2.98×10-06
increased mean platelet volume Arhgap30tm1a(EUCOMM)Wtsi HOM Early adult 1.14×10-23
increased circulating amylase level Arhgap30tm1a(EUCOMM)Wtsi HOM Early adult 2.13×10-07

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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

3 Images

X-ray

XRay Images Skull Lateral Orientation

3 Images

X-ray

XRay Images Whole Body Lateral Orientation

3 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

3 Images

X-ray

XRay Images Forepaw

3 Images

Legacy Phenotype Associated Images

Human diseases caused by Arhgap30 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 Arhgap30 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... ORPHA:766
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia, Elevated hepcidin level OMIM:206200
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... OMIM:187800
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Impaired arach... OMIM:619271
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Macrothrombocytopenia, Giant platelets OMIM:600208
Sebastian syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:605249
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia ORPHA:231393
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Splenomegaly, In... OMIM:616860
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Acute myeloid leukemia, Anis... ORPHA:86841
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Macrocytic dy... OMIM:224120
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Anemi... OMIM:615631
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level ... OMIM:300908
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:155100
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... OMIM:603902
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Splenom... OMIM:210250
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Autoinflammation With Infantile Enterocolitis
Anemia, Splenomegaly, Reduced natural killer cell count, Increased circulating ferritin concentra... OMIM:616050
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Hypoalbuminemia, Histiocy... OMIM:209950
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Myh9-Related Disease
Neutrophil inclusion bodies, Increased mean platelet volume, Giant platelets, Congenital thromboc... ORPHA:182050
Leishmaniasis
Leukopenia, Anemia, Splenomegaly, Abnormal macrophage morphology, Hypoalbuminemia, Pancytopenia, ... ORPHA:507
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Anisocytosis... ORPHA:98870
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Fechtner syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:153640
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Neutropenia, Hypoalbuminemia OMIM:600351
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation OMIM:231200
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Macrophage Activation Syndrome
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... ORPHA:158061
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Refractory Celiac Disease
Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Iron deficiency anemia, Hypophosphatemia, ... ORPHA:398063
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reduced haptoglobin level, Hypochromia, Stomatocytosis, Hype... ORPHA:71275
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly OMIM:153670
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Anemia OMIM:616176
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Leukopenia, Increased LDL... OMIM:267700
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hypoalbuminemia OMIM:618805
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Eosinophilic Gastroenteritis
Leukocytosis, Anemia, Hypoalbuminemia, Eosinophilia, Elevated circulating C-reactive protein conc... ORPHA:2070
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Refractory Anemia With Excess Blasts
Leukocytosis, Abnormal mean corpuscular volume, Abnormal circulating albumin concentration, Acute... ORPHA:86839
Myelolymphatic Insufficiency
Hyposegmentation of neutrophil nuclei, Leukopenia OMIM:310350
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating transferrin c... OMIM:616000
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Decreased serum iron, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, El... OMIM:616959
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Anemia, Hypoalbuminemia OMIM:608104
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Pelger-Huet Anomaly
Neutropenia, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocytopenia, Abnormalit... OMIM:169400
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Congenital Enterovirus Infection
Leukocytosis, Neutropenia, Leukopenia, Anemia, Hyperammonemia, Abnormal macrophage morphology, Hy... ORPHA:292
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thrombocytopenia OMIM:615285
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Chylomicron Retention Disease
Hypocholesterolemia, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia OMIM:246700
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Leukopenia, Anemia, Increased total bilirubin, Splenomegaly, Incre... OMIM:603553
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia ORPHA:846
Hepatoportal Sclerosis
Leukopenia, Anemia, Hyperbilirubinemia, Splenomegaly, Hypersplenism, Hypoalbuminemia, Thrombocyto... ORPHA:64743
Acute Erythroid Leukemia
Pancytopenia, Anemia, Leukopenia, Erythroid hypoplasia ORPHA:318
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Thrombocytosis, Hypoproteinemia, Hypoalbuminemia OMIM:226300
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Orotic Aciduria
Hypochromia, Anisocytosis, Poikilocytosis, Pyrimidine-responsive megaloblastic anemia, Folate-unr... OMIM:258900
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis OMIM:617718
Ménétrier Disease
Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia ORPHA:2494
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Anemia, Hypocalcemia, Reduced proportion of CD4+ effector memory T cells, Decrea... ORPHA:90362
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia OMIM:617156
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Familial Hemophagocytic Lymphohistiocytosis
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... ORPHA:540
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529799
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Nephrotic Syndrome, Type 14
Hypoalbuminemia, Lymphopenia, Hypertriglyceridemia OMIM:617575
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Lung abscess, Anemia, Hypoalbuminemia, Liver abscess ORPHA:67
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Hepatosplenomegaly, Hypermethioninemia, Dec... ORPHA:247598
Beta-Thalassemia
Abnormality of iron homeostasis, Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Th... ORPHA:848
Avian Influenza
Leukopenia, Elevated circulating creatine kinase concentration, Lymphopenia, Hypoalbuminemia, Thr... ORPHA:454836
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Wolcott-Rallison Syndrome
Hyponatremia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hyperammonemia, Lymphocyto... ORPHA:1667
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Thrombocytopenia, Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly OMIM:251880
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hypochromic microcytic anemia, Persistence of hemoglobin F, Sple... ORPHA:231226
Alg6-Cdg
Decreased LDL cholesterol concentration, Hypoalbuminemia ORPHA:79320
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Giant platelets, Impaired ristoce... ORPHA:274
Trichohepatoenteric Syndrome 1
Increased serum iron, Thrombocytosis, Abnormality of iron homeostasis, Increased mean platelet vo... OMIM:222470
Juvenile Polyposis Syndrome
Anemia, Hypokalemia, Hypoalbuminemia OMIM:174900
Mucopolysaccharidosis-Plus Syndrome
Neutropenia, Leukopenia, Anemia, Splenomegaly, Hypoalbuminemia, Thrombocytopenia OMIM:617303
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia OMIM:267500
Lathosterolosis
Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis, Abnormal circulating cholest... OMIM:607330
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Anisocytosis, Poikilocytosis, Chronic hemolytic anemia, Reticulocytosis, Decreased mean corpuscul... OMIM:618278
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume OMIM:616737
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypercholesterole... ORPHA:64753
Thrombocytopenia 1
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia OMIM:313900
Syndromic Diarrhea
Thrombocytosis, Abnormality of iron homeostasis, Increased mean platelet volume, Hypoplasia of th... ORPHA:84064
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Elevated circulating creatine kinase concentration, Absces... ORPHA:36234
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Refractory anemia, Acute myeloid leukemia, Leukopenia, Monocytosis OMIM:616871
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Ir... ORPHA:37042
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Abnormal circulating met... ORPHA:88618
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Autoimmune thromb... OMIM:613011
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... ORPHA:567548
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia, A... ORPHA:247585
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Congenital Erythropoietic Porphyria
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Erythroid hyperplasia, Leukopenia, Sp... ORPHA:79277
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Aicardi-Goutieres Syndrome 9
Hepatosplenomegaly, Hemolytic anemia, Anemia, Hypoalbuminemia OMIM:619487
Diamond-Blackfan Anemia 5
Macrocytic anemia, Reticulocytopenia, Leukopenia, Erythroid hypoplasia OMIM:612528
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Al Amyloidosis
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Anemia, Hypoalbuminemia ORPHA:85443
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Acanthocytosis, Decreased LDL cholesterol concentration,... ORPHA:14
Congenital Disorder Of Glycosylation, Type Ia
Hypocholesterolemia, Thrombocytosis, Hypoalbuminemia OMIM:212065
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatosplenomegaly, Hypoalbuminemia ORPHA:367
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Hepatocellular Carcinoma
Thrombocytosis, Hyponatremia, Hypercalcemia, Hypokalemia, Polycythemia, Anemia, Hyperbilirubinemi... ORPHA:88673
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... OMIM:600903
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Anisopoikilocytosis, Elevated red cell adenosine deaminase level, Stomatocytosis, Hyperuricemia, ... OMIM:102730
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum zinc, Anemia, Decreased serum iron, Abnormal circulating selenium concentration, ... ORPHA:89842
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Leukopenia, Anemia, Hepatosplenomegaly, Hypoalbuminemia, Thrombocytopenia ORPHA:505248
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia OMIM:603585
Insulin-Resistance Syndrome Type B
Leukopenia, Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentrati... ORPHA:2298
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Chronic Intestinal Pseudoobstruction
Abnormal platelet morphology ORPHA:2978
Marburg Hemorrhagic Fever
Hyperamylasemia, Leukopenia, Hypokalemia, Neutrophilia in presence of infection, Elevated circula... ORPHA:99826
Alg12-Cdg
B lymphocytopenia, Hyponatremia, Hypocholesterolemia, Hypoalbuminemia, Thrombocytopenia ORPHA:79324
Beta-Thalassemia Intermedia
Leukocytosis, Abnormality of iron homeostasis, Erythroid hyperplasia, Elevated hepatic iron conce... ORPHA:231222
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypocholesterolemia, L... ORPHA:90363
Juvenile Polyposis Of Infancy
Refractory anemia, Anemia, Hypoalbuminemia ORPHA:79076
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Increased mean platelet volume ORPHA:487796
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Thrombocytopenia, Leukopenia OMIM:231095
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Anemia, Hypoalbuminemia ORPHA:79396
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia OMIM:618183
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Hypoalbuminemia OMIM:619055
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Hypoalbuminemia OMIM:618329
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:612561
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia OMIM:235510
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia ORPHA:186
Immunodeficiency 82 With Systemic Inflammation
B lymphocytopenia, Decreased proportion of naive T cells, Elevated circulating C-reactive protein... OMIM:619381
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Anemia, Hypocalcemia, Pancytopenia OMIM:613658
Beta-Thalassemia Major
Abnormality of iron homeostasis, Anisopoikilocytosis, Hypochromic microcytic anemia, Splenomegaly... ORPHA:231214
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Galloway-Mowat Syndrome 1
Hypoalbuminemia OMIM:251300
Primary Sclerosing Cholangitis
Hypoalbuminemia, Hepatosplenomegaly, Splenomegaly ORPHA:171
Shwachman-Diamond Syndrome 1
Neutropenia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Pancytopenia, Thrombocy... OMIM:260400
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Blackfan-Diamond Anemia
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... ORPHA:124
Thymoma
Leukemia, Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:141750
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Decreased HDL cholesterol concentrat... ORPHA:330015
Biliary, Renal, Neurologic, And Skeletal Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia, Splenomegaly, Hypercholesterol... OMIM:619534
Tropical Endomyocardial Fibrosis
Hypoalbuminemia, Eosinophilia, Splenomegaly ORPHA:75565
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Hypoalbuminemia OMIM:614748
Pmm2-Cdg
Impaired neutrophil chemotaxis, Reduced thyroxin-binding globulin, Hypoalbuminemia ORPHA:79318

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 Arhgap30

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 Arhgap30.

There are 2 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) Arhgap30tm1a(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Arhgap30tm1a(EUCOMM)Wtsi PMC6671969

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Arhgap30tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Arhgap30tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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