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Gene: Rbks MGI:1918586

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
ribokinase
Synonyms:
5230400M11Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 Rbks 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 Rbks by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Achalasia-Microcephaly Syndrome
Achalasia OMIM:200450
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... OMIM:619350
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Achalasia ORPHA:2400
Deafness-Vitiligo-Achalasia Syndrome
Achalasia ORPHA:3239
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Hypoperistalsis,... OMIM:611376
Deafness, Congenital, With Vitiligo And Achalasia
Achalasia OMIM:221350
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Achalasia, Dysphagia OMIM:300858
Achalasia, Familial Esophageal
Achalasia, Xerostomia OMIM:200400
Achalasia-Microcephaly Syndrome
Achalasia ORPHA:929
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Abdominal distention, Hypoperistalsis OMIM:619365
Moyamoya Disease 6 With Or Without Achalasia
Achalasia, Dysphagia OMIM:615750
Immunodeficiency 70
Celiac disease, Achalasia, Colitis OMIM:618969
Dystonia-Deafness Syndrome 1
Achalasia, Pseudobulbar paralysis, Dysphagia OMIM:607371
Tetrasomy 18P
Achalasia ORPHA:3307
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspepsia, Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Abnormal esophagus morpholo... ORPHA:1018
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Nausea and vomiting, Abnormality of the gastrointestinal tract, Intestinal malrotation, Hypoperis... ORPHA:2241
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Achalasia ORPHA:436174
Triple A Syndrome
Achalasia ORPHA:869
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
Developmental Malformations-Deafness-Dystonia Syndrome
Achalasia, Dysphagia ORPHA:79107
Scleromyxedema
Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Dysphagia, Hypoperistalsis ORPHA:167635
Intellectual Disability-Alacrima-Achalasia Syndrome
Achalasia, Dysphagia ORPHA:289483
American Trypanosomiasis
Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Diarrhea, Achalasia ORPHA:3386
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Small intestinal dysmotility, Feeding difficulties, Chronic constipation, Gastroesophageal reflux... OMIM:619482
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Celiac disease, Achalasia, Abnormal intestine morphology, Exocrine pancreatic insufficiency OMIM:615952
Posterior Column Ataxia With Retinitis Pigmentosa
Achalasia OMIM:609033
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Achalasia, Gastroesophageal reflux, Feeding difficulties OMIM:600987
Multisystemic Smooth Muscle Dysfunction Syndrome
Intestinal malrotation, Hypoperistalsis OMIM:613834
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri... OMIM:277320
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Central Hypoventilation Syndrome, Congenital, 1
Chronic constipation, Ineffective esophageal peristalsis, Aganglionic megacolon, Feeding difficul... OMIM:209880
Mirage Syndrome
Achalasia, Chronic diarrhea, Gastroesophageal reflux, Esophageal stricture OMIM:617053
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Achalasia, Esophageal stenosis, Feeding difficulties, Dysphagia OMIM:615510
Isolated Congenital Alacrima
Achalasia ORPHA:91416
Achalasia-Addisonianism-Alacrima Syndrome
Achalasia OMIM:231550
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Achalasia, Esophagitis, Feeding difficulties OMIM:615356
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Achalasia OMIM:616007
Visceral Myopathy 1
Gastroparesis, Aganglionic megacolon, Intestinal pseudo-obstruction, Abdominal pain, Abdominal di... OMIM:155310
Cystic Fibrosis, Modifier Of, 1
Meconium ileus OMIM:603855
Meconium Ileus
Chronic diarrhea, Microcolon, Meconium ileus OMIM:614665
Fabry Disease
Nausea and vomiting, Anorexia, Malabsorption, Abdominal pain, Achalasia ORPHA:324

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 Rbks

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 Rbks.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Ribose Accelerates Gut Motility and Suppresses Mouse Body Weight Gaining. International journal of biological sciences (April 2016) Rbkstm1a(EUCOMM)Wtsi PMC4870713

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Rbkstm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rbkstm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Rbkstm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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