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
Stillbirth, Fetal cystic hygroma, Hydrops fetalis OMIM:257350
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Polyhydramnios, Hydrops fetalis, Fetal pericardial effusion, Fetal pleural effusion OMIM:619462
Hydrops Fetalis, Nonimmune
Nonimmune hydrops fetalis, Hydrops fetalis OMIM:236750
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios OMIM:613124
Fetal Parvovirus Syndrome
Increased nuchal translucency, Ascites, Hydrops fetalis ORPHA:295
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Fetal pericardial effusion,... OMIM:620014
Achondrogenesis, Type Ib
Polyhydramnios, Edema, Breech presentation, Hydrops fetalis, Stillbirth, Umbilical hernia OMIM:600972
Placental Insufficiency
Abnormal placenta morphology, Abnormal umbilical cord blood vessel morphology, Small placenta ORPHA:439167
Indomethacin Embryofetopathy
Premature birth, Hydrops fetalis, Oligohydramnios ORPHA:1909
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Chondrodysplasia, Blomstrand Type
Premature birth, Fetal ascites, Polyhydramnios, Hydrops fetalis, Stillbirth OMIM:215045
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hydrops fetalis OMIM:276822
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Ascites, Increased p... ORPHA:1041
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hydrops fetalis, Polyhydramnios ORPHA:2204
Diffuse Neonatal Hemangiomatosis
Ascites, Premature birth, Hydrops fetalis, Polyhydramnios ORPHA:2123
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Cardiomyopathy, Familial Restrictive, 6
Ascites, Hydrops fetalis OMIM:619433
Achondrogenesis
Thickened nuchal skin fold, Umbilical hernia, Hydrops fetalis, Polyhydramnios ORPHA:932
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Single umbilical artery, Hydrops fetalis, Polyhydramnios ORPHA:3405
Sialidosis Type 2
Umbilical hernia, Ascites, Hydrops fetalis, Pedal edema ORPHA:87876
Achondrogenesis Type 1B
Thickened nuchal skin fold, Umbilical hernia, Hydrops fetalis, Polyhydramnios ORPHA:93298
Long Qt Syndrome 3
Nonimmune hydrops fetalis, Hydrops fetalis OMIM:603830
Achondrogenesis Type 1A
Thickened nuchal skin fold, Umbilical hernia, Hydrops fetalis, Polyhydramnios ORPHA:93299
Hb Bart'S Hydrops Fetalis
Hydrops fetalis, Polyhydramnios, Oligohydramnios ORPHA:163596
Glycogen Storage Disease Iv
Decreased fetal movement, Polyhydramnios, Edema, Hydrops fetalis, Ascites OMIM:232500
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Nonimmune hydrops fetalis OMIM:619003
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hydrops fetalis, Fetal akinesia sequence OMIM:618815
Congenital Heart Block
Premature birth, Pericardial effusion, Hydrops fetalis, Peripheral edema, Vaginal birth after Cae... ORPHA:60041
Congenital Pulmonary Lymphangiectasia
Pleural effusion, Ascites, Hydrops fetalis, Chylopericardium ORPHA:2414
Congenital Disorder Of Glycosylation, Type Ik
Abnormality of the amniotic fluid, Nonimmune hydrops fetalis OMIM:608540
Fetal Gaucher Disease
Decreased fetal movement, Fetal akinesia sequence, Hydrops fetalis, Stillbirth, Neonatal death ORPHA:85212
Lymphatic Malformation 1
Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis OMIM:153100
Idiopathic Neonatal Atrial Flutter
Hydrops fetalis, Fetal distress ORPHA:45452
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pleural effusion, Ascites ORPHA:69735
Infantile Sialic Acid Storage Disease
Ascites, Premature birth, Hydrops fetalis OMIM:269920
Transaldolase Deficiency
Hydrops fetalis, Edema ORPHA:101028
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Boomerang Dysplasia
Hydrops fetalis, Polyhydramnios ORPHA:1263
Silver-Russell Syndrome Due To A Point Mutation
Small placenta, Oligohydramnios ORPHA:397590
Congenital Myopathy 1B, Autosomal Recessive
Decreased fetal movement, Hydrops fetalis, Polyhydramnios OMIM:255320
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis ORPHA:477774
Hemochromatosis, Neonatal
Nonimmune hydrops fetalis, Oligohydramnios OMIM:231100
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small placenta ORPHA:73272
Alpha-Thalassemia
Hydrops fetalis ORPHA:846
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large placenta, Umbilical hernia, Polyhydramnios ORPHA:254534
Achondrogenesis, Type Ii
Stillbirth, Hydrops fetalis, Polyhydramnios, Edema OMIM:200610
Free Sialic Acid Storage Disease
Ascites, Hydrops fetalis ORPHA:834
Congenital Enterovirus Infection
Decreased fetal movement, Premature birth, Fetal ascites, Polyhydramnios, Pericardial effusion, H... ORPHA:292
Neuraminidase Deficiency
Facial edema, Ascites, Hydrops fetalis OMIM:256550
Mulibrey Nanism
Ascites, Hydrops fetalis OMIM:253250
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Lymphedema, Hydrops fetalis, Oligohydramnios OMIM:601927
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis OMIM:616738
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Facial edema, Edema, Perior... OMIM:616843
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
Alg8-Cdg
Premature birth, Edema, Hydrops fetalis, Ascites, Oligohydramnios ORPHA:79325
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
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Hydrops fetalis, Single umbilical artery, Pleural effusion, Ascites OMIM:616897
Fetal Akinesia Deformation Sequence 1
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine... OMIM:208150
Klippel-Trénaunay Syndrome
Ascites, Hydrops fetalis, Edema ORPHA:90308
Mucopolysaccharidosis Type 7
Umbilical hernia, Ascites, Hydrops fetalis, Lymphedema ORPHA:584
Combined Oxidative Phosphorylation Deficiency 57
Neonatal death, Nonimmune hydrops fetalis, Fetal pleural effusion OMIM:620167
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema OMIM:607823
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Ascites, Fetal pericardial effusion, Nonimmune hydrops fetalis, Oligohydramnios OMIM:617021
Platyspondylic Dysplasia, Torrance Type
Hydrops fetalis, Polyhydramnios ORPHA:85166
Schneckenbecken Dysplasia
Umbilical hernia, Stillbirth, Nonimmune hydrops fetalis, Polyhydramnios OMIM:269250
Lymphatic Malformation 13
Nonimmune hydrops fetalis, Lymphedema, Fetal pericardial effusion, Single umbilical artery, Fetal... OMIM:620244
Cholestasis, Progressive Familial Intrahepatic, 5
Pleural effusion, Ascites, Nonimmune hydrops fetalis OMIM:617049
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Single umbilical artery, Hydrops fetalis, Increased placental thickness ORPHA:1865
Trisomy 1Q
Increased nuchal translucency, Hydrops fetalis, Polyhydramnios ORPHA:261344
Campomelia, Cumming Type
Lymphedema, Hydrops fetalis, Oligohydramnios ORPHA:1318
Trisomy 13
Hydrops fetalis ORPHA:3378
Fraser Syndrome 3
Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Stillbirth, Ascites, Oligohy... OMIM:617667
Achondrogenesis, Type Ia
Polyhydramnios, Increased nuchal translucency, Hydrops fetalis, Stillbirth, Absence of stomach bu... OMIM:200600
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Ascites, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akinesia sequence ORPHA:367
Neu-Laxova Syndrome 1
Decreased fetal movement, Spina bifida, Polyhydramnios, Fetal akinesia sequence, Stillbirth, Shor... OMIM:256520
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Nonimmune hydrops fetalis OMIM:618265
Greenberg Dysplasia
Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Increased nucha... OMIM:215140
Gaucher Disease, Perinatal Lethal
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Desquamatio... OMIM:608013
Mitochondrial Trifunctional Protein Deficiency 1
Abnormality of the amniotic fluid, Hydrops fetalis OMIM:609015
Cardiomyopathy, Familial Hypertrophic, 27
Nonimmune hydrops fetalis OMIM:618052
Osteogenesis Imperfecta, Type Ii
Premature birth, Nonimmune hydrops fetalis OMIM:166210
Galactosialidosis
Nonimmune hydrops fetalis OMIM:256540
Lethal Congenital Contracture Syndrome 10
Oligohydramnios, Hydrops fetalis, Fetal akinesia sequence OMIM:617022
Mosaic Trisomy 9
Spina bifida, Polyhydramnios, Hydrops fetalis, Single umbilical artery, Oligohydramnios ORPHA:99776
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Ascites, Hydrops fetalis OMIM:614091
Gm1 Gangliosidosis
Premature birth, Hydrops fetalis ORPHA:354
Fibrochondrogenesis 1
Stillbirth, Hydrops fetalis OMIM:228520
Restrictive Dermopathy
Decreased fetal movement, Premature birth, Premature delivery because of cervical insufficiency o... ORPHA:1662
S-Adenosylhomocysteine Hydrolase Deficiency
Hydrops fetalis ORPHA:88618
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Pericardial effusion, Nonimmune hydrops fetalis OMIM:619313
Farber Disease
Joint swelling, Ascites, Hydrops fetalis ORPHA:333
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Nonimmune hydrops fetalis, Lymphedema OMIM:137940
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Nonimmune hydrops fetalis, Lymphedema, Periorbital edema, Pericardial effusion, Umbilical hernia,... OMIM:235510
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Umbilical hernia, Large placenta, Polyhydramnios ORPHA:254528
Gm1 Gangliosidosis Type 1
Abnormal placenta morphology, Hydrops fetalis ORPHA:79255
Gm1-Gangliosidosis, Type I
Hydrops fetalis OMIM:230500
Mucopolysaccharidosis, Type Vii
Umbilical hernia, Hydrops fetalis OMIM:253220
Pyruvate Kinase Deficiency Of Red Cells
Nonimmune hydrops fetalis OMIM:266200
Lymphedema-Distichiasis Syndrome
Chylothorax, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema OMIM:153400
Anemia, Congenital Dyserythropoietic, Type Ia
Hydrops fetalis OMIM:224120
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Occipital meningocele, Anencephaly, Hydrops fetalis, Polyhydramnios OMIM:616546
Congenital Myopathy 22B, Severe Fetal
Decreased fetal movement, Nonimmune hydrops fetalis, Polyhydramnios, Breech presentation, Pleural... OMIM:620369
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Fetal polyuria, Premature birth, Polyhydramnios, Edema, Hydrops fetalis OMIM:602522
Congenital Disorder Of Glycosylation, Type Ia
Pericardial effusion, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema OMIM:212065
Hereditary Elliptocytosis
Hydrops fetalis ORPHA:288
Kagami-Ogata Syndrome
Large placenta, Premature birth, Polyhydramnios ORPHA:254519
Multiple Pterygium Syndrome, Escobar Variant
Decreased fetal movement, Umbilical hernia, Hydrops fetalis OMIM:265000
Alg9-Cdg
Thickened nuchal skin fold, Decreased fetal movement, Pericardial effusion, Hydrops fetalis, Olig... ORPHA:79328
Hennekam Syndrome
Lymphedema, Pericardial effusion, Hydrops fetalis, Chylothorax, Ascites ORPHA:2136
Blomstrand Lethal Chondrodysplasia
Premature birth, Hydrops fetalis, Polyhydramnios ORPHA:50945
Mgat2-Cdg
Hydrops fetalis ORPHA:79329
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Bilateral fetal pyelectasis, Polyhydramnios, Breech presentation, Hydrops fetalis, Fetal distress OMIM:300868
Anemia, Congenital Dyserythropoietic, Type Iv
Hydrops fetalis OMIM:613673
Trichohepatoenteric Syndrome 1
Large placenta, Abnormalities of placenta or umbilical cord, Polyhydramnios OMIM:222470
Mycophenolate Mofetil Embryopathy
Hydrops fetalis ORPHA:268249
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrops fetalis, Dehydration ORPHA:79282
Capillary Malformation-Arteriovenous Malformation
Chylothorax, Nonimmune hydrops fetalis, Lymphedema ORPHA:137667
Phocomelia, Schinzel Type
Meningocele, Hydrops fetalis ORPHA:2879
Mosaic Trisomy 16
Large placenta, Single umbilical artery, Premature birth ORPHA:1708
Restrictive Dermopathy 1
Spontaneous chorioamniotic separation, Decreased fetal movement, Premature birth, Polyhydramnios,... 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
Hydrops fetalis, Polyhydramnios OMIM:613610
Pearson Syndrome
Corneal stromal edema, Hydrops fetalis, Dehydration ORPHA:699
Meckel Syndrome, Type 1
Occipital encephalocele, Breech presentation, Large placenta, Anencephaly, Single umbilical arter... OMIM:249000
Autoimmune Lymphoproliferative Syndrome
Hydrops fetalis ORPHA:3261
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Thickened nuchal skin fold, Nonimmune hydrops fetalis, Polyhydramnios, Single umbilical artery, N... OMIM:265380
Hepatoerythropoietic Porphyria
Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema ORPHA:95159
Niemann-Pick Disease Type C
Ascites, Hydrops fetalis, Fetal ascites ORPHA:646
Yunis-Varon Syndrome
Increased nuchal translucency, Hydrops fetalis, Polyhydramnios ORPHA:3472
Cardiac Valvular Dysplasia 1
Hydrops fetalis, Edema OMIM:212093
Gaucher Disease
Hydrops fetalis ORPHA:355
Beckwith-Wiedemann Syndrome
Premature birth, Polyhydramnios, Large placenta, Subchorionic septal cyst, Umbilical hernia ORPHA:116
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Large placenta, Premature birth, Polyhydramnios, Spinal dysraphism ORPHA:96334
Generalized Arterial Calcification Of Infancy
Polyhydramnios, Edema, Pericardial effusion, Hydrops fetalis, Ascites, Fetal distress ORPHA:51608
Congenital Erythropoietic Porphyria
Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema ORPHA:79277
Diamond-Blackfan Anemia
Nonimmune hydrops fetalis ORPHA:124
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hydrops fetalis ORPHA:93271
Yunis-Varon Syndrome
Premature birth, Hydrops fetalis, Polyhydramnios 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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