Gene Summary

Name:
Rho GTPase activating protein 17
Synonyms:
Rich1,  WBP15,  5730403H17Rik,  Nadrin2,  Nadrin

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 B-1a cell number Arhgap17tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
increased transitional stage T1 B cell number Arhgap17tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
decreased mature B cell number Arhgap17tm1b(EUCOMM)Wtsi HOM Early adult 0.00
decreased circulating fructosamine level Arhgap17tm1b(EUCOMM)Wtsi HOM Early adult 8.74×10-07
decreased follicular B cell number Arhgap17tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
decreased circulating glucose level Arhgap17tm1b(EUCOMM)Wtsi HOM Early adult 2.13×10-05
abnormal bone structure Arhgap17tm1b(EUCOMM)Wtsi HOM   Early adult 1.92×10-05
improved glucose tolerance Arhgap17tm1b(EUCOMM)Wtsi HOM Early adult 1.20×10-06

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 Skull Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

Legacy Phenotype Associated Images

View all 70 images

Human diseases caused by Arhgap17 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 Arhgap17 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Hyperlipoproteinemia, Type Id
Failure to thrive, Colitis OMIM:615947
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Growth delay, Abdominal pain, Weight loss, Intestinal obstru... OMIM:266600
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Mucoid diarrhea, Growth delay, Failure to thrive, Decreased ... OMIM:615767
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Failure to thrive, Arthritis, Intractable diarrhea OMIM:613217
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium OMIM:616868
Diarrhea 9
Failure to thrive, Diarrhea, Villous atrophy OMIM:618168
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Pyoderma, Growth delay, Perianal abscess, Crohn's disease, Enterocolitis, Colitis, ... OMIM:613148
Inflammatory Bowel Disease (Crohn Disease) 30
Abnormal intestine morphology, Bloody diarrhea, Vomiting, Esophagitis, Duodenitis, Gastritis, Chr... OMIM:619079
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Ulcerative colitis OMIM:619398
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Carcinoma Of Esophagus
Dysphagia, Abnormal intestine morphology, Esophageal neoplasm, Weight loss, Barrett esophagus, Ob... ORPHA:70482
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Weight loss, Diarrhea, Abdominal pain, Hematochezia OMIM:191390
Diarrhea 2, With Microvillus Atrophy
Abnormal intestine morphology, Villous atrophy, Growth delay, Protracted diarrhea, Malnutrition OMIM:251850
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Vomiting, Abdominal distention, Abnormality of enteric ganglion morphology... OMIM:142623
5-Oxoprolinase Deficiency
Diarrhea, Abdominal pain, Vomiting, Enterocolitis OMIM:260005
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Colitis ORPHA:88643
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, G... OMIM:619350
Secondary Short Bowel Syndrome
Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Vomiting, Growth dela... ORPHA:95427
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Colitis, Minimal change glomerulonephritis OMIM:617006
Pseudomyxoma Peritonei
Nausea and vomiting, Inflammation of the large intestine, Weight loss, Intestinal obstruction, Ab... ORPHA:26790
Immunodeficiency 37
Decreased circulating antibody level, Colitis, Infectious encephalitis OMIM:616098
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Rectovaginal fistula, Perianal abscess, Enterocutaneous fistula, Enterocolitis OMIM:612567
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgG, Celiac disease, Decreased circu... OMIM:618969
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Diverticulosis, Small-Intestinal
Duodenal diverticula, Jejunal diverticula, Rheumatoid arthritis, Thyroiditis, Jejunoileal diverti... OMIM:223320
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Vomiting, Failure to thrive, Diarrhea, Protein-losing enteropathy OMIM:615863
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Perioral eczema, Recurrent aphthous stomatitis, Diarrhea, Recurrent sinusitis OMIM:613960
Trichohepatoenteric Syndrome 2
Villous atrophy, Intrauterine growth retardation, Small for gestational age, Failure to thrive, H... OMIM:614602
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Abnormal esophagus physiology, Dysphagia, Nausea and vomiting, Esophageal neoplasm, Abnormal larg... ORPHA:2198
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Decreased circulating antibody level, Hepatiti... OMIM:300635
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Bronchiectasis, Failure to thrive, Decreased circulating ant... OMIM:618108
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Agammaglobulinemia, Villous atrophy, Infectious encephalitis, Failure to thrive, Pro... OMIM:209920
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Dysphagia, Inflammation of the large intestine, Eczema, Failure to thrive, Decreased circulating ... OMIM:608809
Immunodeficiency 76
Chronic diarrhea, Colitis, Recurrent pneumonia, Growth delay OMIM:619164
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Enterocolitis
Abdominal distention, Ulcerative colitis, Hematochezia, Enterocolitis OMIM:226150
Immunodeficiency 84
B lymphocytopenia, Perianal abscess, Splenomegaly OMIM:619437
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Decreased circulating IgA level, Decreased circulating IgG l... OMIM:619281
Dyskeratosis Congenita, Autosomal Recessive 5
Intrauterine growth retardation, Decreased circulating antibody level, Postnatal growth retardati... OMIM:615190
Atresia Of Small Intestine
Intrauterine growth retardation, Vomiting, Short stature, Failure to thrive, Feeding difficulties... ORPHA:1201
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Autoinflammatory Syndrome, Familial, Behcet-Like
Colitis, Ileal ulcer, Skin rash, Anterior uveitis OMIM:616744
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia OMIM:616941
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Vomiting, Bronchiectasis, Dependency on parenteral nutrition, Abdominal distenti... OMIM:619445
Immunodeficiency 31C
Abnormal intestine morphology, Eczema, Villous atrophy, Growth delay, Short stature, Chronic muco... OMIM:614162
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Chronic diarrhe... OMIM:618394
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Lactose intolerance, Feeding difficulties in infancy, Abdominal pain, Eosinophilic microabscess f... ORPHA:411696
Autoinflammation With Infantile Enterocolitis
Feeding difficulties in infancy, Villous atrophy, Short stature, Failure to thrive, Skin rash, En... OMIM:616050
Hereditary Central Diabetes Insipidus
Growth delay, Polydipsia, Vomiting, Weight loss, Diarrhea ORPHA:30925
Esophagitis, Eosinophilic, 1
Failure to thrive, Dysphagia, Esophagitis, Vomiting OMIM:610247
Esophagitis, Eosinophilic, 2
Failure to thrive, Dysphagia, Esophagitis, Vomiting OMIM:613412
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Congenital Short Bowel Syndrome
Vomiting, Failure to thrive, Congenital shortened small intestine, Abnormal peristalsis, Intestin... OMIM:615237
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Inflammatory Skin And Bowel Disease, Neonatal, 1
Bloody diarrhea, Villous atrophy, Erythroderma, Pustule, Failure to thrive, Duodenitis, Increased... OMIM:614328
Cernunnos-Xlf Deficiency
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia ORPHA:169079
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Sterile arthritis, Acne, Arthritis, Colitis OMIM:604416
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia OMIM:610021
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Decreased circulating antibody level, Colitis, Recurrent sinusitis OMIM:613101
Immunodeficiency 58
Dysphagia, Eczema, Decreased specific antibody response to vaccination, Allergic rhinitis, Helico... OMIM:618131
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Villous atrophy, Decreased specific antibody response to vac... OMIM:614700
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Mu-Heavy Chain Disease
Abnormal B cell count, Osteoporosis, Anemia, Splenomegaly, Osteolysis ORPHA:100024
Congenital Tufting Enteropathy
Villous atrophy, Vomiting, Failure to thrive, Weight loss, Abdominal distention, Malabsorption, A... ORPHA:92050
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Short stature, Failure to thrive, Membranous nephropathy, Colonic eosinophilia... OMIM:618999
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Failure to thrive in infancy, Bronchiectasis, Increased circulating interleukin 8, Chronic diarrh... OMIM:301220
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia OMIM:616873
Proprotein Convertase 1/3 Deficiency
Obesity, Diarrhea, Villous atrophy, Malabsorption OMIM:600955
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:147630
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Hepatosplenomegaly, Increased proportion of memory T cells OMIM:618982
Immunodeficiency 85 And Autoimmunity
Failure to thrive in infancy, Eczema, Villous atrophy, Tube feeding, Erythroderma, Vomiting, Decr... OMIM:619510
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Gastroesophageal Reflux
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm OMIM:109350
Central Diabetes Insipidus
Nausea and vomiting, Anorexia, Polydipsia, Failure to thrive, Weight loss, Diarrhea ORPHA:178029
Immunodeficiency 13
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... OMIM:615518
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Vomiting, Failure to thrive, Hepatic failure, Diarrhea, Protein-losing enteropathy OMIM:602579
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Interstitial pneumonitis, Ulcerative colitis, Decreased circulat... OMIM:614878
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Inflammation of the large intestine, Weight loss, Acne, Arthritis, Palmo... ORPHA:324964
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent infection of the gastrointestinal tract, Pneumonia, Stomatitis, Lymphadenitis, Failure ... ORPHA:911
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Myositis, Increased circulating antibody level, Rhe... ORPHA:48104
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of serum cytokine level, Increased circulating interleukin 6, Erythroderma, Infectiou... ORPHA:540
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Bloody diarrhea, Gastrointestinal dysmotility, Protracted diarrhea, Ac... ORPHA:67
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal intestine morphology, Eczema, Tubulointerstitial nephritis, Hepatitis, Gastritis, Inflam... ORPHA:37042
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Shigellosis
Myocarditis, Failure to thrive in infancy, Bloody mucoid diarrhea, Tenesmus, Bloody diarrhea, Vom... ORPHA:810
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Failure to thrive, Inflammation of the large intestine OMIM:617718
Cystinosis
Short stature, Vomiting, Failure to thrive, Polydipsia, Malabsorption, Delayed puberty ORPHA:213
Netherton Syndrome
Abnormal intestine morphology, Allergic rhinitis, Villous atrophy, Erythroderma, Failure to thriv... OMIM:256500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, T lymphocytopenia OMIM:601457
Autoimmune Hepatitis
Inflammation of the large intestine, Hepatocellular carcinoma, Glomerulonephritis, Sclerosing cho... ORPHA:2137
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Decreased proportion of class-switched memory B cells, Splenomegaly, Incr... OMIM:615559
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Eczema, Short stature, Lymphadenitis, Crohn's disease, Perianal abscess, Anal fissure, Acute panc... OMIM:618935
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Whipple Disease
Myocarditis, Cachexia, Anorexia, Pericarditis, Infectious encephalitis, Polydipsia, Myositis, Mal... ORPHA:3452
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, T lymphocytopenia, Lymphopenia ORPHA:277
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Abscess, Splenomegaly, Intermittent throm... OMIM:150550
Pancreatic Triacylglycerol Lipase Deficiency
Keratoconjunctivitis sicca, Growth delay, Colitis, Weight loss, Abdominal distention, Steatorrhea... ORPHA:309031
Sweet Syndrome
Increased circulating interleukin 6, Inflammation of the large intestine, Predominantly dermal ne... ORPHA:3243
Omenn Syndrome
B lymphocytopenia, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B lymphocytopenia, Thro... OMIM:603554
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Intrauterine growth retardation, Esophageal varix, Growth de... OMIM:614576
Hermansky-Pudlak Syndrome 1
Inflammation of the large intestine, Abdominal pain, Hematochezia, Colitis OMIM:203300
Immunodeficiency 68
B lymphocytopenia, Abscess, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Feeding difficulties in infancy, Short stature, Vomiting, Failure to thrive, Polydipsia, Constipa... OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Feeding difficulties in infancy, Short stature, Vomiting, Failure to thrive, Polydipsia, Constipa... OMIM:304800
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia, Osteopenia OMIM:615363
Cyclic Neutropenia
Sinusitis, Peritonitis, Periodontitis, Perianal abscess, Otitis media, Recurrent skin infections,... ORPHA:2686
Sapho Syndrome
Psoriasiform dermatitis, Inflammation of the large intestine, Pustule, Synovitis, Acne, Malabsorp... ORPHA:793
Septo-Optic Dysplasia Spectrum
Cleft palate, Short stature, Polydipsia, Esophageal atresia, Tracheoesophageal fistula, Obesity, ... ORPHA:3157
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Villous atrophy, Erythroderma, Failure to thrive, Hepatitis, Arthritis, Chronic diarrhea,... OMIM:304790
Iga Pemphigus
Pustule, Increased circulating IgA level, Neutrophilic infiltration of the skin, Monoclonal eleva... ORPHA:555905
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Hypoglycemia OMIM:617872
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Splenomegaly, Neutropen... OMIM:607594
Spondyloarthropathy, Susceptibility To, 1
Psoriasiform dermatitis, Inflammation of the large intestine, Hip osteoarthritis, Oligoarthritis,... OMIM:106300
Thymoma
Myositis, Neoplasm of the gastrointestinal tract, Weight loss, Decreased circulating antibody lev... ORPHA:99867
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Hepatitis, Gastritis, Crohn's disease, Decreased circulating total IgM, Diarrhea,... OMIM:619381
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, B lymphocytopenia ORPHA:70593
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Abnormal intestine morphology, Eczema, Villous atrophy, Inf... ORPHA:391487
Microvillus Inclusion Disease
Abdominal distention, Diarrhea, Villous atrophy, Abnormality of small intestinal villus morphology ORPHA:2290
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Bloody diarrhea, Rectal prolapse, Vomiting, Peritonitis, Acute colitis, Intestinal perforation, P... ORPHA:90038
Refractory Celiac Disease
Jejunitis, Inflammatory abnormality of the skin, Villous atrophy, Weight loss, Malabsorption, Chr... ORPHA:398063
Sepsis In Premature Infants
Increased circulating interleukin 6, Small for gestational age, Vomiting, Functional abnormality ... ORPHA:90051
Visceral Myopathy 1
Dysphagia, Aganglionic megacolon, Megaduodenum, Vomiting, Intestinal pseudo-obstruction, Abdomina... OMIM:155310
Primary Intestinal Lymphangiectasia
Growth delay, Increased stool alpha1-antitrypsin concentration, Functional abnormality of the gas... ORPHA:90362
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Congenital Disorder Of Glycosylation, Type Id
High palate, Villous atrophy, Vomiting, Failure to thrive, Bifid uvula, Diarrhea OMIM:601110
Zygomycosis
Sinusitis, Myocarditis, Colon perforation, Fasciitis, Hepatitis, Melena, Gastritis, Gastrointesti... ORPHA:73263
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Bloody diarrhea, Increased circulating interleukin 6, Gastrointestinal infarctions, ... ORPHA:544482
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Neutropenia OMIM:601495
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Bloody diarrhea, Failure to thrive, Increased circulating IgG level, Eosinophilic infiltration of... OMIM:618213
Nephrogenic Diabetes Insipidus
Nausea and vomiting, Anorexia, Growth delay, Short stature, Polydipsia, Failure to thrive, Feedin... ORPHA:223
Syndromic Diarrhea
Bloody diarrhea, Villous atrophy, Intrauterine growth retardation, Small for gestational age, Sho... ORPHA:84064
Toxic Epidermal Necrolysis
Nausea and vomiting, Dysphagia, Polydipsia, Weight loss, Intestinal perforation, Malabsorption, P... ORPHA:537
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, T lymphocytopenia ORPHA:217390
Reactive Arthritis
Inflammation of the large intestine, Pericarditis, Pustule, Weight loss, Arthritis, Osteomyelitis... ORPHA:29207
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6, Pneumonia, Pancreatitis, Abnormal serum interleukin level, A... ORPHA:70578
Acute Lung Injury
Abnormality of serum cytokine level, Increased circulating interleukin 6, Pneumonia, Acute pancre... ORPHA:178320
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... OMIM:262190
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Abnormally low T cell receptor excision circle level,... OMIM:618986
Bardet-Biedl Syndrome 9
Obesity, Polydipsia, Polyphagia, Truncal obesity OMIM:615986
Familial Cold Urticaria
Nausea and vomiting, Polydipsia, Arthritis, Abdominal pain, Conjunctivitis ORPHA:47045
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Postnatal growth retardation, Feeding difficulties, Esophagitis, Gastroesophageal reflux ORPHA:79350
Macrophage Activation Syndrome
Increased circulating interleukin 6, Hepatitis, Increased inflammatory response, Decreased liver ... ORPHA:158061
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Necrotizing enterocolitis, Gastroesophageal reflux, Episodic vomiting OMIM:201475
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly ORPHA:664
Acquired Central Diabetes Insipidus
Weight loss, Polydipsia ORPHA:95626
Kindler Epidermolysis Bullosa
Dysphagia, Inflammation of the large intestine, Cheilitis, Abnormality of the anus, Esophagitis, ... ORPHA:2908
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Psoriasiform dermatitis, Failure to thrive in infancy, Eczema, Villous atrophy, Erythroderma, Dec... OMIM:606367
Osteootohepatoenteric Syndrome
Villous atrophy, Ileoileal intussusception, Episodic vomiting, Failure to thrive, Weight loss, In... OMIM:619377
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Cholangitis, Dysphagia, Eczema, Feeding difficulties in inf... ORPHA:3260
Nephronophthisis-Like Nephropathy 2
Polydipsia, Bronchiectasis OMIM:619468
Wolfram Syndrome
Feeding difficulties in infancy, Gastric ulcer, Polydipsia, Malabsorption, Gastrointestinal hemor... ORPHA:3463
Pediatric-Onset Graves Disease
Nausea and vomiting, Intrauterine growth retardation, Episcleritis, Polyphagia, Polydipsia, Failu... ORPHA:525731
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the tongue, Hepatocellular carcinoma, Glomerulonephritis, Increased circulating IgA l... ORPHA:3261
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Growth delay, Hepatocellular carcinoma, Short stature, Failu... ORPHA:79259
Senior-Loken Syndrome 1
Polydipsia OMIM:266900
Sandifer Syndrome
Feeding difficulties, Esophagitis, Hiatus hernia, Hematemesis, Gastroesophageal reflux, Episodic ... ORPHA:71272
Ochoa Syndrome
Polydipsia, Bowel incontinence, Constipation ORPHA:2704
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Interface hepatitis, Granulomatous cholangitis, Increased ci... ORPHA:562639
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Eczema, Inflammation of the large intestine, Pneumonia, Increased circulating IgA leve... OMIM:600903
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholangiocarcinoma, Celiac disease, Hepatocellular carcinoma, Abnorm... ORPHA:171
Mody
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... ORPHA:552
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Reduced red cell adenosine deaminase level, Splenomegaly, Aplasia of the thymu... OMIM:102700
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure ORPHA:331
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Proximal Renal Tubular Acidosis
Mild postnatal growth retardation, Growth delay, Short stature, Vomiting, Failure to thrive, Poly... ORPHA:47159
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Hypoglycemia OMIM:618838
Cocaine Intoxication
Bloody diarrhea, Tubulointerstitial nephritis, Gastrointestinal infarctions, Vomiting, Nausea, In... ORPHA:90068
Familial Hyperaldosteronism Type I
Polydipsia, Nausea ORPHA:403
X-Linked Lymphoproliferative Disease
Myocarditis, Inflammation of the large intestine, Decreased circulating IgA level, Increased circ... ORPHA:2442
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent hypoglycemia, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Severe B lym... ORPHA:293978
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Abnormal... ORPHA:331206
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypoglycemia, Diabetes mellitus, Glycosuria, Rickets OMIM:616026
Gitelman Syndrome
Growth delay, Vomiting, Polydipsia, Failure to thrive, Salt craving, Delayed puberty, Abdominal p... OMIM:263800
Immunodeficiency 87 And Autoimmunity
Cleft palate, Villous atrophy, Intrauterine growth retardation, Small for gestational age, Growth... OMIM:619573
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Nausea and vomiting, Abdominal distention, Intestinal malrotation, Hypoperistalsis, Abnormality o... ORPHA:2241
Familial Hyperaldosteronism Type Iii
Polydipsia, Nausea ORPHA:251274
Parenteral Nutrition-Associated Cholestasis
Villous atrophy, Small for gestational age, Abnormality of cytokine secretion, Hepatic failure, A... ORPHA:567983
Hyperparathyroidism, Neonatal Severe
Failure to thrive, Polydipsia, Feeding difficulties in infancy, Constipation OMIM:239200
Parathyroid Carcinoma
Nausea and vomiting, Dysphagia, Peptic ulcer, Polydipsia, Weight loss, Pancreatitis, Episodic abd... ORPHA:143
Apparent Mineralocorticoid Excess
Failure to thrive, Polydipsia, Intrauterine growth retardation, Short stature ORPHA:320
Wiskott-Aldrich Syndrome
Eczema, Inflammation of the large intestine, Increased circulating IgA level, Recurrent otitis me... OMIM:301000
Plague
Bloody diarrhea, Inflammation of the large intestine, Anorexia, Vomiting, Endocarditis, Lymphaden... ORPHA:707
Meconium Ileus
Meconium ileus, Microcolon OMIM:614665
Bardet-Biedl Syndrome 17
Obesity, Polydipsia OMIM:615994
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Sarcoidosis, Susceptibility To, 1
Abnormal salivary gland morphology, Inflammation of the large intestine, Anorexia, Bronchiectasis... OMIM:181000
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hepatic failure, Microcolon, Intestinal malrotation OMIM:619431
Microcolon
Microcolon OMIM:251400
Diabetes Insipidus, Neurohypophyseal, X-Linked
Polydipsia OMIM:304900
Brain-Lung-Thyroid Syndrome
Abnormal drinking behavior, Growth delay, Short stature, Failure to thrive, Abnormal eating behav... ORPHA:209905
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia, Nausea ORPHA:369929
Frontometaphyseal Dysplasia 2
Pyloric stenosis, Feeding difficulties in infancy, High palate, Cleft palate, Bifid uvula, Delaye... OMIM:617137
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Esophageal varix, Cholangiocarcinoma, Growth delay, Polydipsia, Feeding difficulties... ORPHA:731
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Leukopenia, Bone marrow hypocellularity, Anemia, Lymphopenia, Ret... ORPHA:508542
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Absent natural kil... ORPHA:35078
Psoriasis-Related Juvenile Idiopathic Arthritis
Psoriasiform dermatitis, Oligoarthritis, Sacroiliac arthritis, Anterior uveitis, Iridocyclitis, U... ORPHA:85436
Wiskott-Aldrich Syndrome
Sinusitis, Eczema, Inflammation of the large intestine, Chronic otitis media, Arthritis, Keratiti... ORPHA:906
Hyperparathyroidism-Jaw Tumor Syndrome
Nausea and vomiting, Dysphagia, Peptic ulcer, Polydipsia, Pancreatitis, Episodic abdominal pain, ... ORPHA:99880
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Pyloric stenosis, Abnormality of exocrine pancreas physiology, Arthritis, Polydipsia ORPHA:93111
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Sideroblastic anemia, Splenomegaly OMIM:616084
Distal Renal Tubular Acidosis
Growth delay, Vomiting, Short stature, Failure to thrive, Polydipsia, Poor appetite, Diarrhea, Co... ORPHA:18
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Nausea ORPHA:231580
Rabson-Mendenhall Syndrome
High palate, Intrauterine growth retardation, Severe postnatal growth retardation, Short stature,... ORPHA:769
Infantile Nephropathic Cystinosis
Growth delay, Polydipsia, Vomiting, Failure to thrive, Constipation ORPHA:411629
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Infectious encephalitis, Celiac disease, Short stature, Gastrointestinal dysmotility, Feeding dif... ORPHA:293987
Renal Hypoplasia
Polydipsia, Small for gestational age ORPHA:93101
Cystinosis, Nephropathic
Dysphagia, Failure to thrive in infancy, Growth delay, Short stature, Polydipsia, Oral-pharyngeal... OMIM:219800
Chronic Thromboembolic Pulmonary Hypertension
Obesity, Inflammation of the large intestine, Osteomyelitis ORPHA:70591
Helix Syndrome
Xerostomia, Polydipsia OMIM:617671
Trichohepatoenteric Syndrome 1
Villous atrophy, Intrauterine growth retardation, Small for gestational age, Short stature, Failu... OMIM:222470
East Syndrome
Salt craving, Polydipsia ORPHA:199343
Teratoma, Pineal
Polydipsia OMIM:273120
Senior-Boichis Syndrome
Esophageal varix, Polydipsia ORPHA:84081
Nephronophthisis 4
Growth delay, Polydipsia OMIM:606966
Turner Syndrome Due To Structural X Chromosome Anomalies
High, narrow palate, Failure to thrive in infancy, High palate, Inflammation of the large intesti... ORPHA:99413
Turner Syndrome
High, narrow palate, Failure to thrive in infancy, High palate, Inflammation of the large intesti... ORPHA:881
Mosaic Monosomy X
High, narrow palate, Failure to thrive in infancy, High palate, Inflammation of the large intesti... ORPHA:99228
Monosomy X
High, narrow palate, Failure to thrive in infancy, High palate, Inflammation of the large intesti... ORPHA:99226
Hypomagnesemia 3, Renal
Failure to thrive, Feeding difficulties in infancy, Abdominal pain, Polydipsia OMIM:248250
Panhypophysitis
Hashimoto thyroiditis, Poor appetite, Polydipsia, Nausea ORPHA:95513
Combined Immunodeficiency With Faciooculoskeletal Anomalies
B lymphocytopenia, Osteopenia, Reduced natural killer cell count, Decreased proportion of CD4-pos... ORPHA:221139
Erdheim-Chester Disease
Nausea and vomiting, Polydipsia, Weight loss, Osteomyelitis, Skin rash, Abdominal pain ORPHA:35687
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Peritonitis, Abdominal distention, Ileal atresia, Pyelonephritis, Microcolon OMIM:619351
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Salt craving, Polydipsia, Short stature OMIM:612780
Juvenile Nephropathic Cystinosis
Growth delay, Vomiting, Polydipsia, Failure to thrive, Feeding difficulties, Poor appetite ORPHA:411634
Pituitary Dermoid And Epidermoid Cysts
Oligospermia, Nausea and vomiting, Polydipsia ORPHA:91351
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Abdominal distention, Microcolon OMIM:619362
Oligomeganephronia
Polydipsia, Small for gestational age ORPHA:2260
Nephronophthisis 1
Growth delay, Polydipsia OMIM:256100
Alg12-Cdg
Recurrent hypoglycemia, Thrombocytopenia, B lymphocytopenia, Abnormal bone ossification ORPHA:79324
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Aganglionic megacolon, Ileus, Microcolon, Abdominal pain, Constipation ORPHA:163746
Gitelman Syndrome
Nausea and vomiting, Tubulointerstitial nephritis, Polydipsia, Failure to thrive, Gout, Salt crav... ORPHA:358
Nephronophthisis 11
Growth delay, Polydipsia OMIM:613550
Hyperaldosteronism, Familial, Type Iii
Polydipsia OMIM:613677
Nijmegen Breakage Syndrome
B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Autoimmune hemolytic anemia OMIM:251260
Bartter Syndrome, Type 2, Antenatal
Small for gestational age, Vomiting, Failure to thrive, Short stature, Polydipsia, Diarrhea, Cons... OMIM:241200
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Absent circulating B cells OMIM:307200
Nephronophthisis 3
Polydipsia OMIM:604387
Mowat-Wilson Syndrome
Pyloric stenosis, Dysphagia, Aganglionic megacolon, Cleft palate, Growth delay, Vomiting, Short s... ORPHA:2152
Alg9-Cdg
Villous atrophy, Vomiting, Rhizomelia, Bifid uvula, Diarrhea, Gastroesophageal reflux ORPHA:79328
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Coronal craniosynostosis, B lymphocytopenia, Severe B lymphocytopenia ORPHA:83617
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Intrauterine growth retardation, Failure to thrive, Intestinal malrotation, Mi... OMIM:600001

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 Arhgap17

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 Arhgap17.

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) Arhgap17tm1b(EUCOMM)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Arhgap17tm1b(EUCOMM)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Arhgap17tm1b(EUCOMM)Wtsi