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Gene: Rab5c MGI:105306

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Gene Summary

Name:
RAB5C, member RAS oncogene family
Synonyms:
N/A

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IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating total protein level Rab5ctm1a(EUCOMM)Wtsi HET Early adult 3.79×10-07
decreased circulating cholesterol level Rab5ctm1a(EUCOMM)Wtsi HET Early adult 9.02×10-05
increased circulating alkaline phosphatase level Rab5ctm1a(EUCOMM)Wtsi HET Early adult 2.71×10-10
preweaning lethality, complete penetrance Rab5ctm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased circulating fructosamine level Rab5ctm1a(EUCOMM)Wtsi HET Early adult 1.71×10-07

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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X-ray

XRay Images Forepaw

15 Images

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X-ray

XRay Images Skull Lateral Orientation

15 Images

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X-ray

XRay Images Whole Body Dorso Ventral

15 Images

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Legacy Phenotype Associated Images
Rab5ctm1a(EUCOMM)Wtsi
HET, Female, WTSI
Rab5ctm1a(EUCOMM)Wtsi
HET, Female, WTSI
Rab5ctm1a(EUCOMM)Wtsi
WT, Male, WTSI
Rab5ctm1a(EUCOMM)Wtsi
WT, Male, WTSI
Rab5ctm1a(EUCOMM)Wtsi
WT, Male, WTSI

View all 100 images

Rab5ctm1a(EUCOMM)Wtsi
abnormal retinal pigmentation, HET, Female, WTSI
Rab5ctm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI

Human diseases caused by Rab5c 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 Rab5c by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia ORPHA:29073
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hypoalbuminemia, Hyperlipidemia OMIM:256300
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Hypoalbuminemia, Increased alpha-globulin, Hyperlipidemia ORPHA:86816
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:616834
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616829
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Acute hyperammonemia, Hypertriglyceridemia, Hypoalbuminemi... ORPHA:247585
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:256840
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Squalene Synthase Deficiency
Decreased LDL cholesterol concentration, Increased circulating farnesol concentration, Elevated c... OMIM:618156
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia ORPHA:90363
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Hypocholesterolemia OMIM:266510
Analbuminemia
Elevated circulating transferrin concentration, Hypercholesterolemia, Increased LDL cholesterol c... OMIM:616000
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Omenn Syndrome
Hypoproteinemia OMIM:603554
Dengue Fever
Hypoproteinemia ORPHA:99828
Leptospirosis
Hyperproteinemia ORPHA:509
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Bile Acid Synthesis Defect, Congenital, 1
Hyperbilirubinemia, Steatorrhea, Hypocholesterolemia OMIM:607765
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Increased circulating free fatty acid level, Elevated circulating ... ORPHA:26793
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hyponat... OMIM:603553
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:603776
Chylomicron Retention Disease
Steatorrhea, Hypocholesterolemia ORPHA:71
Maternal Uniparental Disomy Of Chromosome 4
Elevated circulating creatine kinase concentration, Decreased LDL cholesterol concentration, Abet... ORPHA:96180
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Hypoalbuminemia ORPHA:90362
Ataxia With Vitamin 3 Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:277460
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Decreased circulating apol... OMIM:207750
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Hemorrhagic Fever-Renal Syndrome
Hypoproteinemia ORPHA:340
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Pierson Syndrome
Hypoproteinemia OMIM:609049
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia ORPHA:1655
Abetalipoproteinemia
Hypotriglyceridemia, Hyperbilirubinemia, Steatorrhea, Hypocholesterolemia, Decreased LDL choleste... ORPHA:14
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hypocholesterolemia OMIM:212065
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia, Hyponatremia ORPHA:167
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
Smith-Lemli-Opitz Syndrome
Elevated 7-dehydrocholesterol, Hypocholesterolemia OMIM:270400
Juvenile Polyposis Syndrome
Hypoproteinemia ORPHA:2929

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 Rab5c

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 Rab5c.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Rab5ctm1a(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Rab5ctm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Rab5ctm1a(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Rab5ctm1a(EUCOMM)Wtsi PMC5827107

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MGI Allele Allele Type Produced
Rab5ctm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Rab5ctm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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