Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
RPTOR independent companion of MTOR, complex 2
Synonyms:
6030405M08Rik,  D530039E11Rik,  4921505C17Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Rictor 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 Rictor by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Nuchal Bleb, Familial
Hydrops fetalis, Fetal cystic hygroma, Stillbirth OMIM:257350
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Lymphatic Malformation 8
Polyhydramnios, Stillbirth, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Ge... OMIM:618773
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:613124
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hydrops fetalis, Ascites ORPHA:295
Placental Insufficiency
Maternal hypertension, Preeclampsia, Eclampsia, Abnormal placenta morphology, Small placenta, Spo... ORPHA:439167
Achondrogenesis, Type Ib
Polyhydramnios, Hydrops fetalis, Stillbirth, Umbilical hernia, Edema, Breech presentation OMIM:600972
Chondrodysplasia, Blomstrand Type
Polyhydramnios, Hydrops fetalis, Premature birth, Stillbirth OMIM:215045
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hydrops fetalis OMIM:276822
Indomethacin Embryofetopathy
Hydrops fetalis, Premature birth, Oligohydramnios ORPHA:1909
Hydrops Fetalis
Polyhydramnios, Increased placental thickness, Lymphedema, Pleural effusion, Pericardial effusion... ORPHA:1041
Dysplastic Cortical Hyperostosis
Polyhydramnios, Hydrops fetalis ORPHA:2204
Lymphatic Malformation 7
Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fetalis, Pulmonary edema OMIM:617300
Diffuse Neonatal Hemangiomatosis
Polyhydramnios, Hydrops fetalis, Premature birth, Ascites ORPHA:2123
Achondrogenesis
Polyhydramnios, Hydrops fetalis, Umbilical hernia, Thickened nuchal skin fold ORPHA:932
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Preeclampsia, Hydrops fetalis, Oligohydramnios ORPHA:163596
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Single umbilical artery, Hydrops fetalis ORPHA:3405
Achondrogenesis Type 1B
Polyhydramnios, Hydrops fetalis, Umbilical hernia, Thickened nuchal skin fold ORPHA:93298
Cardiomyopathy, Familial Hypertrophic 27
Hydrops fetalis OMIM:618052
Sialidosis Type 2
Hydrops fetalis, Ascites, Umbilical hernia, Pedal edema ORPHA:87876
Achondrogenesis Type 1A
Polyhydramnios, Hydrops fetalis, Umbilical hernia, Thickened nuchal skin fold ORPHA:93299
Anemia, Congenital Dyserythropoietic, Type Iv
Hydrops fetalis OMIM:613673
Idiopathic Neonatal Atrial Flutter
Hydrops fetalis, Fetal distress, Maternal diabetes ORPHA:45452
Congenital Disorder Of Glycosylation, Type Ik
Nonimmune hydrops fetalis, Abnormality of the amniotic fluid OMIM:608540
Achondrogenesis, Type Ii
Polyhydramnios, Hydrops fetalis, Edema, Stillbirth OMIM:200610
Glycogen Storage Disease Iv
Polyhydramnios, Hydrops fetalis, Decreased fetal movement, Edema, Ascites OMIM:232500
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hydrops fetalis, Fetal akinesia sequence OMIM:618815
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Nonimmune hydrops fetalis OMIM:619003
Boomerang Dysplasia
Polyhydramnios, Hydrops fetalis ORPHA:1263
Fetal Gaucher Disease
Hydrops fetalis, Stillbirth, Fetal akinesia sequence, Decreased fetal movement, Neonatal death ORPHA:85212
Congenital Pulmonary Lymphangiectasia
Pleural effusion, Hydrops fetalis, Ascites, Chylopericardium ORPHA:2414
Lymphangiectasia, Pulmonary, Congenital
Polyhydramnios, Palpebral edema, Pleural effusion, Pedal edema, Facial edema, Edema, Ascites, Non... OMIM:265300
Transaldolase Deficiency
Hydrops fetalis, Edema ORPHA:101028
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Hydrops fetalis, Palpebral edema, Pleural effusion, Predominantly lower limb lymphedema, Ascites ORPHA:69735
Infantile Sialic Acid Storage Disease
Hydrops fetalis, Premature birth, Ascites OMIM:269920
Silver-Russell Syndrome Due To A Point Mutation
Small placenta, Oligohydramnios ORPHA:397590
Lymphatic Malformation 1
Hyperkeratosis over edematous areas, Nonimmune hydrops fetalis, Predominantly lower limb lymphedema OMIM:153100
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis ORPHA:477774
Hemochromatosis, Neonatal
Nonimmune hydrops fetalis, Oligohydramnios OMIM:231100
Minicore Myopathy With External Ophthalmoplegia
Polyhydramnios, Decreased fetal movement, Hydrops fetalis OMIM:255320
Anemia, Congenital Dyserythropoietic, Type Ia
Hydrops fetalis OMIM:224120
Alpha-Thalassemia
Hydrops fetalis ORPHA:846
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small placenta ORPHA:73272
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Large placenta, Umbilical hernia ORPHA:254534
Congenital Enterovirus Infection
Polyhydramnios, Hydrops fetalis, Pleural effusion, Pericardial effusion, Fetal distress, Fetal as... ORPHA:292
Neuraminidase Deficiency
Hydrops fetalis, Ascites, Facial edema OMIM:256550
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Hydrops fetalis ORPHA:766
Mulibrey Nanism
Hydrops fetalis, Ascites OMIM:253250
Klippel-Trénaunay Syndrome
Hydrops fetalis, Edema, Ascites ORPHA:90308
Lymphatic Malformation 6
Polyhydramnios, Lymphedema, Pleural effusion, Facial edema, Edema, Ascites, Nonimmune hydrops fet... OMIM:616843
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema OMIM:607823
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Hydrops fetalis, Pleural effusion, Single umbilical artery, Ascites OMIM:616897
Combined Oxidative Phosphorylation Deficiency 41
Premature birth, Nonimmune hydrops fetalis OMIM:618838
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Premature birth, Nonimmune hydrops fetalis OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Premature birth, Nonimmune hydrops fetalis OMIM:618839
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis OMIM:616738
Achondrogenesis, Type Ia
Polyhydramnios, Hydrops fetalis, Stillbirth OMIM:200600
Mucopolysaccharidosis Type 7
Lymphedema, Hydrops fetalis, Ascites, Umbilical hernia ORPHA:584
Platyspondylic Dysplasia, Torrance Type
Polyhydramnios, Hydrops fetalis ORPHA:85166
Free Sialic Acid Storage Disease
Hydrops fetalis, Ascites ORPHA:834
Primary Intestinal Lymphangiectasia
Hydrops fetalis, Lymphedema, Pleural effusion, Pericardial effusion, Pedal edema, Chylous ascites ORPHA:90362
Osteogenesis Imperfecta, Type Ii
Premature birth, Nonimmune hydrops fetalis OMIM:166210
Campomelia, Cumming Type
Lymphedema, Hydrops fetalis, Oligohydramnios ORPHA:1318
Lethal Congenital Contracture Syndrome 10
Hydrops fetalis, Oligohydramnios, Fetal akinesia sequence OMIM:617022
Trisomy 1Q
Polyhydramnios, Increased nuchal translucency, Hydrops fetalis ORPHA:261344
Trisomy 13
Hydrops fetalis ORPHA:3378
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Lymphedema, Oligohydramnios, Severe hydrops fetalis OMIM:601927
Pyruvate Kinase Deficiency Of Red Cells
Nonimmune hydrops fetalis, Abnormality of the amniotic fluid OMIM:266200
Fetal Akinesia Deformation Sequence 1
Polyhydramnios, Short umbilical cord, Stillbirth, Fetal akinesia sequence, Premature birth, Small... OMIM:208150
Dyssegmental Dysplasia, Silverman-Handmaker Type
Spontaneous abortion, Hydrops fetalis, Single umbilical artery, Increased placental thickness ORPHA:1865
Mitochondrial Trifunctional Protein Deficiency
Prenatal maternal abnormality, Hydrops fetalis, Abnormality of the amniotic fluid OMIM:609015
Cardiac Valvular Defect, Developmental
Hydrops fetalis, Edema OMIM:212093
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Polyhydramnios, Fetal polyuria, Hydrops fetalis, Premature birth, Edema OMIM:602522
Neu-Laxova Syndrome 1
Polyhydramnios, Spina bifida, Short umbilical cord, Stillbirth, Decreased fetal movement, General... OMIM:256520
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hydrops fetalis, Ascites OMIM:614091
Mosaic Trisomy 9
Polyhydramnios, Spina bifida, Hydrops fetalis, Oligohydramnios, Single umbilical artery ORPHA:99776
Fraser Syndrome 3
Hydrops fetalis OMIM:617667
Mucopolysaccharidosis, Type Vii
Hydrops fetalis, Umbilical hernia OMIM:253220
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Polyhydramnios, Nonimmune hydrops fetalis, Ascites, Fetal akinesia sequence ORPHA:367
Fibrochondrogenesis 1
Hydrops fetalis, Stillbirth OMIM:228520
Gm1 Gangliosidosis
Hydrops fetalis, Premature birth ORPHA:354
Galactosialidosis
Nonimmune hydrops fetalis OMIM:256540
Gm1-Gangliosidosis, Type I
Hydrops fetalis OMIM:230500
Restrictive Dermopathy
Polyhydramnios, Short umbilical cord, Large placenta, Decreased fetal movement, Premature birth, ... ORPHA:1662
Gaucher Disease, Perinatal Lethal
Polyhydramnios, Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Ascites OMIM:608013
Farber Disease
Ascites, Hydrops fetalis, Joint swelling ORPHA:333
S-Adenosylhomocysteine Hydrolase Deficiency
Hydrops fetalis ORPHA:88618
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Polyhydramnios, Large placenta, Umbilical hernia ORPHA:254528
Gm1 Gangliosidosis Type 1
Abnormal placenta morphology, Hydrops fetalis ORPHA:79255
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Hydrops fetalis OMIM:616546
Hereditary Elliptocytosis
Hydrops fetalis ORPHA:288
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Pericardial effusion, Nonimmune hydrops fetalis OMIM:619313
Blomstrand Lethal Chondrodysplasia
Polyhydramnios, Hydrops fetalis, Premature birth ORPHA:50945
Greenberg Dysplasia
Polyhydramnios, Stillbirth, Pleural effusion, Neonatal death, Nonimmune hydrops fetalis, Severe h... OMIM:215140
Kagami-Ogata Syndrome
Polyhydramnios, Large placenta, Premature birth ORPHA:254519
Hennekam Syndrome
Hydrops fetalis, Lymphedema, Pericardial effusion, Ascites, Chylothorax ORPHA:2136
Congenital Disorder Of Glycosylation, Type Ia
Pericardial effusion, Nonimmune hydrops fetalis, Abnormality of the amniotic fluid OMIM:212065
Mosaic Trisomy 16
Maternal diabetes, Preeclampsia, Large placenta, Single umbilical artery, Premature birth ORPHA:1708
Phocomelia, Schinzel Type
Meningocele, Hydrops fetalis ORPHA:2879
Trichohepatoenteric Syndrome 1
Polyhydramnios, Large placenta, Abnormalities of placenta or umbilical cord OMIM:222470
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dehydration, Hydrops fetalis ORPHA:79282
Mycophenolate Mofetil Embryopathy
Hydrops fetalis ORPHA:268249
Gaucher Disease Type 3
Pericardial effusion, Hydrops fetalis ORPHA:77261
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Polyhydramnios, Hydrops fetalis OMIM:300868
Capillary Malformation-Arteriovenous Malformation
Lymphedema, Nonimmune hydrops fetalis, Chylothorax ORPHA:137667
Restrictive Dermopathy, Lethal
Polyhydramnios, Short umbilical cord, Premature rupture of membranes, Stillbirth, Decreased fetal... OMIM:275210
Yunis-Varon Syndrome
Polyhydramnios, Hydrops fetalis, Premature birth OMIM:216340
Cranioectodermal Dysplasia 2
Polyhydramnios, Hydrops fetalis OMIM:613610
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hydrops fetalis OMIM:263520
Pearson Syndrome
Corneal stromal edema, Dehydration, Hydrops fetalis ORPHA:699
Autoimmune Lymphoproliferative Syndrome
Hydrops fetalis ORPHA:3261
Meckel Syndrome, Type 1
Single umbilical artery, Large placenta, Oligohydramnios, Breech presentation OMIM:249000
Niemann-Pick Disease Type C
Hydrops fetalis, Ascites, Fetal ascites ORPHA:646
Hepatoerythropoietic Porphyria
Edema, Nonimmune hydrops fetalis, Abnormality of the amniotic fluid ORPHA:95159
Gaucher Disease
Hydrops fetalis ORPHA:355
Yunis-Varon Syndrome
Polyhydramnios, Increased nuchal translucency, Hydrops fetalis ORPHA:3472
Generalized Arterial Calcification Of Infancy
Polyhydramnios, Hydrops fetalis, Pericardial effusion, Fetal distress, Recurrent spontaneous abor... ORPHA:51608
Beckwith-Wiedemann Syndrome
Polyhydramnios, Large placenta, Umbilical hernia, Subchorionic septal cyst, Premature birth ORPHA:116
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Polyhydramnios, Large placenta, Spinal dysraphism, Premature birth, Spontaneous abortion ORPHA:96334
Congenital Erythropoietic Porphyria
Edema, Nonimmune hydrops fetalis, Abnormality of the amniotic fluid ORPHA:79277
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Polyhydramnios, Thickened nuchal skin fold, Pleural effusion, Neonatal death, Single umbilical ar... OMIM:265380
Blackfan-Diamond Anemia
Nonimmune hydrops fetalis ORPHA:124
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hydrops fetalis ORPHA:93271

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 Rictor

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 Rictor.

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

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MGI Allele Allele Type Produced
Rictortm1aNarl KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors

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