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
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Esophagitis, Volvulus, G... OMIM:619350
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Achalasia ORPHA:2400
Deafness-Vitiligo-Achalasia Syndrome
Achalasia ORPHA:3239
Deafness, Congenital, With Vitiligo And Achalasia
Achalasia OMIM:221350
Moyamoya Disease 6 With Or Without Achalasia
Achalasia, Dysphagia OMIM:615750
Mungan Syndrome
Barrett esophagus, Megaduodenum, Hypoperistalsis, Intestinal pseudo-obstruction OMIM:611376
Achalasia, Familial Esophageal
Xerostomia, Achalasia OMIM:200400
Mental Retardation, X-Linked, Syndromic 17
Achalasia, Dysphagia OMIM:300858
Multisystemic Smooth Muscle Dysfunction Syndrome
Hyperperistalsis, Intestinal malrotation OMIM:613834
Achalasia-Microcephaly Syndrome
Achalasia ORPHA:929
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Abdominal distention, Hypoperistalsis OMIM:619365
Congenital Short Bowel Syndrome
Vomiting, Congenital shortened small intestine, Abnormal peristalsis, Intestinal malrotation, Chr... OMIM:615237
Immunodeficiency 70
Achalasia, Colitis, Celiac disease OMIM:618969
Motor Neuropathy, Peripheral, With Dysautonomia
Achalasia OMIM:252320
Dystonia, Juvenile-Onset
Achalasia OMIM:607371
Tetrasomy 18P
Achalasia ORPHA:3307
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dysphagia, Esophageal neoplasm, Vomiting, Morphological abnormality of the gastrointestinal tract... ORPHA:1018
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Nausea and vomiting, Abdominal distention, Intestinal malrotation, Hypoperistalsis, Abnormality o... ORPHA:2241
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Achalasia ORPHA:436174
Triple A Syndrome
Achalasia ORPHA:869
Developmental Malformations-Deafness-Dystonia Syndrome
Achalasia, Dysphagia ORPHA:79107
Dysphagia, Gastroesophageal reflux, Hypoperistalsis, Abnormality of the gastrointestinal tract ORPHA:167635
American Trypanosomiasis
Aganglionic megacolon, Abnormal large intestine physiology, Achalasia, Diarrhea, Abdominal pain ORPHA:3386
Intellectual Disability-Alacrima-Achalasia Syndrome
Achalasia, Dysphagia ORPHA:289483
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Dysphagia, Feeding difficulties, Gastrostomy tube feeding in infancy, Achalasia, Ineffective esop... OMIM:619482
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Achalasia, Abnormal intestine morphology, Celiac disease, Exocrine pancreatic insufficiency OMIM:615952
Posterior Column Ataxia With Retinitis Pigmentosa
Achalasia OMIM:609033
Alacrima, Achalasia, And Mental Retardation Syndrome
Achalasia, Dysphagia, Feeding difficulties OMIM:615510
Visceral Myopathy, Familial, With External Ophthalmoplegia
Abdominal distention, Spontaneous esophageal perforation, Gastroparesis, Malnutrition, Abdominal ... OMIM:277320
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Intestinal pseudo-obstruction, Abdominal distention, Spontane... ORPHA:1876
Central Hypoventilation Syndrome, Congenital, 1
Feeding difficulties, Aganglionic megacolon, Ineffective esophageal peristalsis, Chronic constipa... OMIM:209880
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Lactose intolerance, Dysphagia, Feeding difficulties in infancy, Vomiting, Nausea, Feeding diffic... ORPHA:411696
Mirage Syndrome
Chronic diarrhea, Achalasia, Esophageal stricture, Gastroesophageal reflux OMIM:617053
Achalasia-Addisonianism-Alacrima Syndrome
Achalasia OMIM:231550
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Feeding difficulties, Achalasia, Esophagitis OMIM:615356
Visceral Myopathy 1
Dysphagia, Aganglionic megacolon, Megaduodenum, Vomiting, Intestinal pseudo-obstruction, Abdomina... OMIM:155310
Cystic Fibrosis, Modifier Of, 1
Meconium ileus OMIM:603855
Fabry Disease
Nausea and vomiting, Anorexia, Malabsorption, Achalasia, Abdominal pain ORPHA:324
Meconium Ileus
Meconium ileus, Microcolon OMIM:614665


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

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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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