Not currently registered for phenotyping at IMPC

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

Gene Summary


IMPC Data Collections

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

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.

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
Matching phenotypes Source
Achalasia-Microcephaly Syndrome
Achalasia OMIM:200450
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... 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, Megaduodenum, Abdominal pain, Hy... OMIM:611376
Deafness, Congenital, With Vitiligo And Achalasia
Achalasia OMIM:221350
Achalasia-Microcephaly Syndrome
Achalasia ORPHA:929
Achalasia, Familial Esophageal
Xerostomia, Achalasia OMIM:200400
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Hypoperistalsis, Abdominal distention OMIM:619365
Moyamoya Disease 6 With Or Without Achalasia
Achalasia, Dysphagia OMIM:615750
Immunodeficiency 70
Colitis, Achalasia, Celiac disease OMIM:618969
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Achalasia OMIM:300858
Dystonia-Deafness Syndrome 1
Achalasia, Dysphagia, Pseudobulbar paralysis OMIM:607371
Tetrasomy 18P
Achalasia ORPHA:3307
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Vomiting, Gastroesophageal reflux, Nasogastric tube feeding, Abnormal gastrointestinal tract morp... ORPHA:1018
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Microcolon, Intestinal malrotation, Nausea and vomiting, Abnormality of the gastrointestinal trac... ORPHA:2241
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Achalasia ORPHA:436174
Triple A Syndrome
Achalasia ORPHA:869
Intellectual Disability-Alacrima-Achalasia Syndrome
Achalasia, Dysphagia ORPHA:289483
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Vomiting, Decreased intestinal transit time, Intestinal mal... OMIM:615237
Hypoperistalsis, Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Dysphagia ORPHA:167635
Developmental Malformations-Deafness-Dystonia Syndrome
Achalasia, Dysphagia ORPHA:79107
American Trypanosomiasis
Diarrhea, Aganglionic megacolon, Achalasia, Abdominal pain, Abnormal large intestine physiology ORPHA:3386
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Gastroesophageal reflux, Ineffective esophageal peristalsis, Chronic constipation, Gastrostomy tu... OMIM:619482
Posterior Column Ataxia With Retinitis Pigmentosa
Achalasia OMIM:609033
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Celiac disease, Achalasia, Abnormal intestine morphology OMIM:615952
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Gastroesophageal reflux, Achalasia, Feeding difficulties OMIM:600987
Smooth Muscle Dysfunction Syndrome
Intestinal malrotation, Hypoperistalsis OMIM:613834
Glucocorticoid Deficiency 2
Achalasia OMIM:607398
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Gastroesophageal reflux, Vomiting, Eosinophilic microabscess formation in the esophagus, Feeding ... ORPHA:411696
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Abnormal gastric mucosa morphology, ... ORPHA:1876
Visceral Myopathy, Familial, With External Ophthalmoplegia
Malnutrition, Gastroparesis, Abdominal distention, Abdominal pain, Spontaneous esophageal perfora... OMIM:277320
Mirage Syndrome
Gastroesophageal reflux, Achalasia, Chronic diarrhea, Esophageal stricture OMIM:617053
Central Hypoventilation Syndrome, Congenital, 1
Aganglionic megacolon, Feeding difficulties, Ineffective esophageal peristalsis, Chronic constipa... OMIM:209880
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Feeding difficulties, Achalasia, Dysphagia, Esophageal stenosis OMIM:615510
Achalasia-Addisonianism-Alacrima Syndrome
Achalasia OMIM:231550
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Esophagitis, Achalasia, Feeding difficulties OMIM:615356
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Achalasia OMIM:616007
Visceral Myopathy 1
Microcolon, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad... OMIM:155310
Cystic Fibrosis, Modifier Of, 1
Meconium ileus OMIM:603855
Meconium Ileus
Microcolon, Chronic diarrhea, Meconium ileus OMIM:614665
Fabry Disease
Malabsorption, Nausea and vomiting, Achalasia, Anorexia, Abdominal pain ORPHA:324


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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