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
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal pericardial effusion, Fetal ascites, Hydrops fetalis, Polyhydramnios, Fetal pleural effusion OMIM:619462
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric... OMIM:618773
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:613124
Fetal Parvovirus Syndrome
Ascites, Increased nuchal translucency, Hydrops fetalis ORPHA:295
Lymphatic Malformation 12
Fetal pericardial effusion, Fetal ascites, Fetal chylothorax, Lymphedema, Neonatal death, Nonimmu... OMIM:620014
Achondrogenesis, Type Ib
Umbilical hernia, Breech presentation, Stillbirth, Polyhydramnios, Hydrops fetalis, Edema OMIM:600972
Placental Insufficiency
Small placenta, Abnormal placenta morphology, Abnormal umbilical cord blood vessel morphology ORPHA:439167
Indomethacin Embryofetopathy
Oligohydramnios, Hydrops fetalis, Premature birth ORPHA:1909
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Ulnar Agenesis And Endocardial Fibroelastosis
Hydrops fetalis, Neonatal death OMIM:276822
Chondrodysplasia, Blomstrand Type
Fetal ascites, Stillbirth, Polyhydramnios, Hydrops fetalis, Premature birth OMIM:215045
Hydrops Fetalis
Generalized edema, Increased placental thickness, Lymphedema, Ascites, Pleural effusion, Nonimmun... ORPHA:1041
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Polyhydramnios, Hydrops fetalis ORPHA:2204
Diffuse Neonatal Hemangiomatosis
Ascites, Hydrops fetalis, Polyhydramnios, Premature birth ORPHA:2123
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Hydrops fetalis, Single umbilical artery ORPHA:3405
Achondrogenesis
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold, Umbilical hernia ORPHA:932
Sialidosis Type 2
Ascites, Hydrops fetalis, Pedal edema, Umbilical hernia ORPHA:87876
Cardiomyopathy, Familial Restrictive, 6
Ascites, Hydrops fetalis OMIM:619433
Congenital Pulmonary Lymphangiectasia
Ascites, Hydrops fetalis, Pleural effusion, Chylopericardium ORPHA:2414
Achondrogenesis Type 1B
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold, Umbilical hernia ORPHA:93298
Long Qt Syndrome 3
Hydrops fetalis, Nonimmune hydrops fetalis OMIM:603830
Mitochondrial Complex I Deficiency, Nuclear Type 35
Nonimmune hydrops fetalis, Neonatal death OMIM:619003
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Oligohydramnios, Hydrops fetalis ORPHA:163596
Achondrogenesis Type 1A
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold, Umbilical hernia ORPHA:93299
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Fetal akinesia sequence, Hydrops fetalis OMIM:618815
Congenital Heart Block
Oligohydramnios, Pleural effusion, Peripheral edema, Vaginal birth after Caesarian, Pericardial e... ORPHA:60041
Congenital Disorder Of Glycosylation, Type Ik
Abnormality of the amniotic fluid, Nonimmune hydrops fetalis OMIM:608540
Fetal Gaucher Disease
Decreased fetal movement, Neonatal death, Fetal akinesia sequence, Stillbirth, Hydrops fetalis ORPHA:85212
Lymphatic Malformation 1
Predominantly lower limb lymphedema, Hyperkeratosis over edematous areas, Nonimmune hydrops fetalis OMIM:153100
Idiopathic Neonatal Atrial Flutter
Hydrops fetalis, Fetal distress ORPHA:45452
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... OMIM:265300
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Ascites, Pleural effusion, Palpebral edema, Hydrops fetalis ORPHA:69735
Transaldolase Deficiency
Hydrops fetalis, Edema ORPHA:101028
Infantile Sialic Acid Storage Disease
Ascites, Hydrops fetalis, Premature birth OMIM:269920
Glycogen Storage Disease Iv
Ascites, Decreased fetal movement, Polyhydramnios, Hydrops fetalis, Edema OMIM:232500
Silver-Russell Syndrome Due To A Point Mutation
Small placenta, Oligohydramnios ORPHA:397590
Boomerang Dysplasia
Polyhydramnios, Hydrops fetalis ORPHA:1263
Hemochromatosis, Neonatal
Oligohydramnios, Nonimmune hydrops fetalis OMIM:231100
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis ORPHA:477774
Congenital Myopathy 1B, Autosomal Recessive
Polyhydramnios, Hydrops fetalis, Decreased fetal movement OMIM:255320
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
Achondrogenesis, Type Ii
Polyhydramnios, Hydrops fetalis, Edema, Stillbirth OMIM:200610
Congenital Enterovirus Infection
Fetal ascites, Fetal distress, Pleural effusion, Decreased fetal movement, Polyhydramnios, Hydrop... ORPHA:292
Free Sialic Acid Storage Disease
Ascites, Hydrops fetalis ORPHA:834
Congenital Disorder Of Glycosylation, Type Il
Ascites, Fetal skin edema, Decreased fetal movement, Pericardial effusion, Hydrops fetalis OMIM:608776
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Oligohydramnios, Hydrops fetalis, Lymphedema OMIM:601927
Neuraminidase Deficiency
Ascites, Hydrops fetalis, Facial edema OMIM:256550
Mulibrey Nanism
Ascites, Hydrops fetalis OMIM:253250
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Hydrops fetalis ORPHA:766
Combined Oxidative Phosphorylation Deficiency 41
Premature birth, Nonimmune hydrops fetalis OMIM:618838
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ascites, Pleural effusion, Single umbilical artery, Polyhydramnios, Hydrops fetalis OMIM:616897
Combined Oxidative Phosphorylation Deficiency 40
Premature birth, Nonimmune hydrops fetalis, Neonatal death OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Premature birth, Nonimmune hydrops fetalis, Neonatal death OMIM:618839
Lymphatic Malformation 6
Facial edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Genital edema, Pleural effusio... OMIM:616843
Alg8-Cdg
Ascites, Oligohydramnios, Hydrops fetalis, Edema, Premature birth ORPHA:79325
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis OMIM:616738
Fetal Akinesia Deformation Sequence 1
Small placenta, Increased nuchal translucency, Short umbilical cord, Decreased fetal movement, No... OMIM:208150
Klippel-Trénaunay Syndrome
Ascites, Hydrops fetalis, Edema ORPHA:90308
Mucopolysaccharidosis Type 7
Ascites, Lymphedema, Hydrops fetalis, Umbilical hernia ORPHA:584
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Predominantly lower limb lymphedema, Palpebral edema, Nonimmune hydrops fetalis OMIM:607823
Combined Oxidative Phosphorylation Deficiency 57
Fetal pleural effusion, Nonimmune hydrops fetalis, Neonatal death OMIM:620167
Lymphatic Malformation 13
Fetal pericardial effusion, Lymphedema, Ascites, Nonimmune hydrops fetalis, Neonatal death, Singl... OMIM:620244
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Ascites, Fetal pericardial effusion, Oligohydramnios, Nonimmune hydrops fetalis OMIM:617021
Schneckenbecken Dysplasia
Polyhydramnios, Umbilical hernia, Nonimmune hydrops fetalis, Stillbirth OMIM:269250
Platyspondylic Dysplasia, Torrance Type
Polyhydramnios, Hydrops fetalis ORPHA:85166
Dyssegmental Dysplasia, Silverman-Handmaker Type
Increased placental thickness, Hydrops fetalis, Encephalocele, Single umbilical artery ORPHA:1865
Alpha-Thalassemia
Pericardial effusion, Generalized edema, Hydrops fetalis, Pleural effusion ORPHA:846
Trisomy 1Q
Polyhydramnios, Hydrops fetalis, Increased nuchal translucency ORPHA:261344
Campomelia, Cumming Type
Oligohydramnios, Hydrops fetalis, Lymphedema ORPHA:1318
Cholestasis, Progressive Familial Intrahepatic, 5
Ascites, Pleural effusion, Nonimmune hydrops fetalis OMIM:617049
Trisomy 13
Hydrops fetalis ORPHA:3378
Fraser Syndrome 3
Ascites, Oligohydramnios, Nonimmune hydrops fetalis, Sonographic non-visualized fetal bladder, St... OMIM:617667
Achondrogenesis, Type Ia
Absence of stomach bubble on fetal sonography, Increased nuchal translucency, Stillbirth, Polyhyd... OMIM:200600
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Ascites, Fetal akinesia sequence, Polyhydramnios, Nonimmune hydrops fetalis ORPHA:367
Neu-Laxova Syndrome 1
Generalized edema, Hydranencephaly, Small placenta, Short umbilical cord, Decreased fetal movemen... OMIM:256520
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Nonimmune hydrops fetalis OMIM:618265
Greenberg Dysplasia
Large placenta, Increased nuchal translucency, Nonimmune hydrops fetalis, Neonatal death, Stillbi... OMIM:215140
Gaucher Disease, Perinatal Lethal
Desquamation of skin soon after birth, Ascites, Decreased fetal movement, Nonimmune hydrops fetal... OMIM:608013
Mitochondrial Trifunctional Protein Deficiency 1
Hydrops fetalis, Abnormality of the amniotic fluid OMIM:609015
Cardiomyopathy, Familial Hypertrophic, 27
Nonimmune hydrops fetalis OMIM:618052
Long-Olsen-Distelmaier Syndrome
Premature rupture of membranes, Nonimmune hydrops fetalis OMIM:620609
Osteogenesis Imperfecta, Type Ii
Premature birth, Nonimmune hydrops fetalis OMIM:166210
Galactosialidosis
Nonimmune hydrops fetalis OMIM:256540
Lethal Congenital Contracture Syndrome 10
Fetal akinesia sequence, Oligohydramnios, Hydrops fetalis OMIM:617022
Mosaic Trisomy 9
Oligohydramnios, Spina bifida, Single umbilical artery, Polyhydramnios, Hydrops fetalis ORPHA:99776
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Ascites, Hydrops fetalis OMIM:614091
Gm1 Gangliosidosis
Hydrops fetalis, Premature birth ORPHA:354
Fibrochondrogenesis 1
Hydrops fetalis, Stillbirth OMIM:228520
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Pericardial effusion, Nonimmune hydrops fetalis OMIM:619313
Restrictive Dermopathy
Small placenta, Large placenta, Short umbilical cord, Decreased fetal movement, Premature deliver... ORPHA:1662
Congenital Syphilis
Large placenta, Hydrops fetalis, Premature birth ORPHA:499009
S-Adenosylhomocysteine Hydrolase Deficiency
Hydrops fetalis ORPHA:88618
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Nonimmune hydrops fetalis, Lymphedema OMIM:137940
Farber Disease
Ascites, Hydrops fetalis, Joint swelling ORPHA:333
Gm1 Gangliosidosis Type 1
Abnormal placenta morphology, Hydrops fetalis ORPHA:79255
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Polyhydramnios, Large placenta, Umbilical hernia ORPHA:254528
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Lymphedema, Umbilical hernia, Pleural effusion, Nonimmune hydrops fetalis, Periorbital edema, Spi... OMIM:235510
Gm1-Gangliosidosis, Type I
Hydrops fetalis OMIM:230500
Mucopolysaccharidosis, Type Vii
Hydrops fetalis, Umbilical hernia OMIM:253220
Pyruvate Kinase Deficiency Of Red Cells
Nonimmune hydrops fetalis OMIM:266200
Congenital Myopathy 22B, Severe Fetal
Ascites, Pleural effusion, Decreased fetal movement, Nonimmune hydrops fetalis, Breech presentati... OMIM:620369
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Chylothorax, Nonimmune hydrops fetalis, Lymphedema OMIM:153400
Anemia, Congenital Dyserythropoietic, Type Ia
Hydrops fetalis OMIM:224120
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Hydrops fetalis, Anencephaly, Occipital meningocele OMIM:616546
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Fetal polyuria, Polyhydramnios, Hydrops fetalis, Edema, Premature birth OMIM:602522
Congenital Disorder Of Glycosylation, Type Ia
Pericardial effusion, Abnormality of the amniotic fluid, Edema, Nonimmune hydrops fetalis OMIM:212065
Kagami-Ogata Syndrome
Polyhydramnios, Large placenta, Premature birth ORPHA:254519
Multiple Pterygium Syndrome, Escobar Variant
Hydrops fetalis, Decreased fetal movement, Umbilical hernia OMIM:265000
Alg9-Cdg
Oligohydramnios, Decreased fetal movement, Thickened nuchal skin fold, Pericardial effusion, Hydr... ORPHA:79328
Hennekam Syndrome
Chylothorax, Lymphedema, Ascites, Pericardial effusion, Hydrops fetalis ORPHA:2136
Mgat2-Cdg
Hydrops fetalis ORPHA:79329
Blomstrand Lethal Chondrodysplasia
Polyhydramnios, Hydrops fetalis, Premature birth ORPHA:50945
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Fetal distress, Bilateral fetal pyelectasis, Breech presentation, Polyhydramnios, Hydrops fetalis OMIM:300868
Trichohepatoenteric Syndrome 1
Polyhydramnios, Large placenta, Abnormalities of placenta or umbilical cord OMIM:222470
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Cerebral edema, Hydranencephaly, Hydrops fetalis OMIM:620371
Anemia, Congenital Dyserythropoietic, Type Iv
Hydrops fetalis OMIM:613673
Hereditary Elliptocytosis
Hydrops fetalis ORPHA:288
Capillary Malformation-Arteriovenous Malformation
Chylothorax, Nonimmune hydrops fetalis, Lymphedema ORPHA:137667
Mycophenolate Mofetil Embryopathy
Hydrops fetalis ORPHA:268249
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrops fetalis, Dehydration ORPHA:79282
Phocomelia, Schinzel Type
Meningocele, Hydrops fetalis ORPHA:2879
Mosaic Trisomy 16
Large placenta, Single umbilical artery, Premature birth ORPHA:1708
Restrictive Dermopathy 1
Premature rupture of membranes, Spontaneous chorioamniotic separation, Hydropic placenta, Oligohy... OMIM:275210
Pearson Marrow-Pancreas Syndrome
Hydrops fetalis, Dehydration OMIM:557000
Gaucher Disease Type 3
Pericardial effusion, Hydrops fetalis ORPHA:77261
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hydrops fetalis OMIM:263520
Cranioectodermal Dysplasia 2
Polyhydramnios, Hydrops fetalis OMIM:613610
Pearson Syndrome
Corneal stromal edema, Hydrops fetalis, Dehydration ORPHA:699
Autoinflammatory Disease, Systemic, With Vasculitis
Periorbital edema, Hydrops fetalis, Premature birth OMIM:620376
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Oligohydramnios, Breech presentation, Single umbilical a... OMIM:249000
Noonan Syndrome 2
Polyhydramnios, Increased nuchal translucency, Nonimmune hydrops fetalis OMIM:605275
Autoimmune Lymphoproliferative Syndrome
Hydrops fetalis ORPHA:3261
Cardiac Valvular Dysplasia 1
Hydrops fetalis, Edema OMIM:212093
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pleural effusion, Nonimmune hydrops fetalis, Neonatal death, Single umbilical artery, Thickened n... OMIM:265380
Niemann-Pick Disease Type C
Ascites, Fetal ascites, Hydrops fetalis ORPHA:646
Hepatoerythropoietic Porphyria
Abnormality of the amniotic fluid, Edema, Nonimmune hydrops fetalis ORPHA:95159
Yunis-Varon Syndrome
Polyhydramnios, Hydrops fetalis, Increased nuchal translucency ORPHA:3472
Beckwith-Wiedemann Syndrome
Subchorionic septal cyst, Umbilical hernia, Large placenta, Polyhydramnios, Premature birth ORPHA:116
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Large placenta, Spinal dysraphism, Polyhydramnios, Premature birth ORPHA:96334
Gaucher Disease
Hydrops fetalis ORPHA:355
Generalized Arterial Calcification Of Infancy
Fetal distress, Ascites, Polyhydramnios, Hydrops fetalis, Pericardial effusion, Edema ORPHA:51608
Congenital Erythropoietic Porphyria
Abnormality of the amniotic fluid, Edema, Nonimmune hydrops fetalis ORPHA:79277
Diamond-Blackfan Anemia
Nonimmune hydrops fetalis ORPHA:124
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hydrops fetalis ORPHA:93271
Yunis-Varon Syndrome
Polyhydramnios, Hydrops fetalis, Premature birth OMIM:216340

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, ES Cells

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