Gene Summary

ribonuclease, RNase A family, 6

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 sternum morphology Rnase6em1(IMPC)Tcp HOM Early adult 0.00
abnormal ovary morphology Rnase6em1(IMPC)Tcp HOM Early adult 0.00
increased monocyte cell number Rnase6em1(IMPC)Tcp HOM   Early adult 7.13×10-05
abnormal stomach morphology Rnase6em1(IMPC)Tcp HOM Early adult 0.00

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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.

Eye Morphology

Images Ophthalmoscopy

100 Images

Eye Morphology

Images Slit Lamp

96 Images


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Skull Lateral Orientation

10 Images

Gross Pathology and Tissue Collection


9 Images


XRay Images Skull Dorso Ventral Orientation

10 Images


XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Rnase6 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 Rnase6 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Gastric Cancer
Stomach cancer OMIM:613659
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, Inflammation of the large intestine, Colitis, B lymphocy... OMIM:619281
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia, Absence of intrinsic factor OMIM:243320
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... OMIM:614470
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia... ORPHA:2688
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia OMIM:616871
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Abnormal platelet morpho... ORPHA:2978
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... ORPHA:157798
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Uterine leiomyosarcoma, Neoplasm of the stomach OMIM:114500
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropenia, Monocytopeni... OMIM:614172
Hepatic Adenomas, Familial
Hepatocellular adenoma, Polycystic ovaries OMIM:142330
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... ORPHA:486
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... ORPHA:206484
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia OMIM:619644
Satoyoshi Syndrome
Tapered finger, Abnormality of the humerus, Abnormal femur morphology, Hypoplasia of the uterus, ... ORPHA:3130
Burkitt Lymphoma
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the spleen, Decreased proport... ORPHA:543
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Deformed humerus, Abnormality of the uterus, Abn... ORPHA:2975
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Tetragametic Chimerism
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... ORPHA:199310
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Cryptorchidism, Acute leukemia, Hypogonadism, Testicular seminoma ORPHA:281090
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis, Clinodactyly, Radial deviation of finger, Thrombocytopenia OMIM:188025
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Fundic gland polyposis, Gastric adenocarcinoma OMIM:619182
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... OMIM:612541
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ... ORPHA:263665
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate OMIM:137215
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... ORPHA:480536
Familial Adenomatous Polyposis 4
Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Ovarian cyst, Uterine ... OMIM:617100
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Gastric varix, Hepatocellular carcinoma OMIM:613490
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb... OMIM:226990
Peutz-Jeghers Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... ORPHA:2869
Microgastria-Limb Reduction Defect Syndrome
Abnormality of the spleen, Abnormal finger morphology, Gastroesophageal reflux, Phocomelia, Micro... ORPHA:2538
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Clubbing, Multiple gastric polyps, Hematochezia, Colon ... OMIM:174900
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... ORPHA:2494
Fraser-Like Syndrome
Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping toe OMIM:229230
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Pyloric stenosis, Congenital hip dislocation, Short 5th finger, Rocker bottom foot OMIM:133705
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... OMIM:618986
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Rectal prolapse, Clubbing, Multiple gastric polyps, Hamartomatous polyp... OMIM:175200
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Avascular necrosis of the capital femoral epiphysis, Pyloric stenosis, Overlapping toe, Camptodac... OMIM:614262
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Ute... ORPHA:220460
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... ORPHA:44890
Müllerian Aplasia And Hyperandrogenism
Cleft palate, Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Bra... ORPHA:247768
Ovarian Fibrothecoma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary, Abnormal endometrium morphology ORPHA:314478
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Clinodactyly of the 5th finger, Pyloric stenosis, Hip dysplasia, Tapered finger OMIM:617219
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... ORPHA:329971
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st... OMIM:300048
Ornithine Transcarbamylase Deficiency
Splenomegaly, Pyloric stenosis ORPHA:664
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Hypersplenism, Thrombocytopenia, Splenomegaly, Esophageal varix, Leu... ORPHA:64743
Fg Syndrome 3
Pyloric stenosis, Broad hallux, Broad thumb, Cryptorchidism OMIM:300406
Muir-Torre Syndrome
Endometrial carcinoma, Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, C... ORPHA:587
Ulnar-Mammary Syndrome
Abnormal morphology of the radius, Hypoplasia of penis, Camptodactyly of finger, Abnormality of t... ORPHA:3138
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Epidermolysis Bullosa, Junctional 1B, Severe
Pyloric stenosis, Syndactyly OMIM:226700
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Pyloric stenosis, Cryptorchidism, Small hand, Cleft palate, Short foot, High ... ORPHA:96184
Ulnar-Mammary Syndrome
Deformed radius, Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Aplas... OMIM:181450
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Proximal phalangeal periosteal thickening, Gastric hypertrophy, Clubbing, Foot acroosteolysis, Pe... OMIM:161700
Periventricular Nodular Heterotopia
Pyloric stenosis, Shoulder dislocation, Gastroesophageal reflux ORPHA:98892
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Adrenal hyperplasia, High, narrow palate, Femoral bowing, Anteriorly placed a... ORPHA:95699
Bronchogenic Cyst
Abnormal esophagus morphology, Dysphagia, Abnormal stomach morphology ORPHA:2357
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Bilateral cryptorchidism, Pyloric stenosis, High palate ORPHA:314575
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism, Congenital pyloric atresia ORPHA:2617
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Abnormal phalange... ORPHA:90291
Bardet-Biedl Syndrome 1
Decreased testicular size, Syndactyly, Aganglionic megacolon, Postaxial polydactyly, High, narrow... OMIM:209900
Familial Melanoma
Neoplasm of the pancreas, Neoplasm of the stomach ORPHA:618
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries ORPHA:2795
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism OMIM:613546
Cervicitis, Duodenal ulcer, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Neoplasm of the ... ORPHA:454840
Bifid sternum, Anal atresia ORPHA:63260
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Pyloric ste... OMIM:263750
Chronic Granulomatous Disease
Liver abscess, Abnormality of neutrophils, Malabsorption, Pyloric stenosis, Splenomegaly, Tracheo... ORPHA:379
Cornelia De Lange Syndrome 1
Proximal placement of thumb, High, narrow palate, High palate, Gastroesophageal reflux, Clinodact... OMIM:122470
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Elevated circulating luteinizing hormone level, Bifid distal phalanx of the thu... OMIM:618419
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Metachromatic Leukodystrophy
Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Abnorm... ORPHA:512
Apert Syndrome
Syndactyly, Finger syndactyly, Pyloric stenosis, Esophageal atresia, Cryptorchidism, Delayed epip... OMIM:101200
Congenital Tracheal Stenosis
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... ORPHA:141127
Osteogenesis Imperfecta, Type X
Multiple rib fractures, Bowing of the long bones, Short femur, Pyloric stenosis, Tibial bowing, T... OMIM:613848
Esophageal Atresia
Barrett esophagus, Abnormal external genitalia, Intestinal malrotation, Pyloric stenosis, Gastroi... ORPHA:1199
Reynolds Syndrome
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Xerostomia, Dysphagia ORPHA:779
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Esophageal atresia, Congenital pyloric atresia OMIM:226730
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va... OMIM:303600
Turner Syndrome Due To Structural X Chromosome Anomalies
Hypermobility of toe joints, Celiac disease, High, narrow palate, Increased circulating gonadotro... ORPHA:99413
Turner Syndrome
Hypermobility of toe joints, Celiac disease, High, narrow palate, Increased circulating gonadotro... ORPHA:881
Mosaic Monosomy X
Hypermobility of toe joints, Celiac disease, High, narrow palate, Increased circulating gonadotro... ORPHA:99228
Monosomy X
Hypermobility of toe joints, Celiac disease, High, narrow palate, Increased circulating gonadotro... ORPHA:99226
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, High, narrow palate, Abnormal finger morphology, Apl... ORPHA:3472
Ulbright-Hodes Syndrome
Abnormal penis morphology, Short humerus, Short metacarpal, Abnormal external genitalia, Enlarged... ORPHA:3404
Hardikar Syndrome
Cleft soft palate, Intestinal malrotation, Celiac disease, Hematemesis, Hypersplenism, Splenomega... OMIM:301068
Carney Complex
Neoplasm of the stomach, Hepatocellular carcinoma, Leydig cell neoplasia, Ovarian serous cystaden... ORPHA:1359
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Arachnodactyly, Overlapping toe, Biliary hyperplasia, Pyloric stenosis,... ORPHA:83617
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Hypospadias, Pyloric stenosis, Aplasia/Hypoplasia of the pancreas, Papillary... ORPHA:93111
Viss Syndrome
Chronic gastritis, High, narrow palate, High palate, Gastroesophageal reflux, Broad uvula, Bifid ... OMIM:619472
Junctional Epidermolysis Bullosa With Pyloric Atresia
Congenital pyloric atresia, Intestinal atresia ORPHA:79403
Williams Syndrome
Hypoplasia of penis, Rectal prolapse, Gastroesophageal reflux, Clinodactyly of the 5th finger, Hy... ORPHA:904
Epidermolysis Bullosa Simplex With Pyloric Atresia
Congenital pyloric atresia ORPHA:158684
Microphthalmia, Syndromic 1
Syndactyly, Aganglionic megacolon, Hypospadias, Down-sloping shoulders, High, narrow palate, Rect... OMIM:309800


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 Rnase6

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 Rnase6.

No publications found that use IMPC mice or data for Rnase6.

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MGI Allele Allele Type Produced
Rnase6em1(IMPC)Tcp Intra-exon deletion Mice

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