Rab38<sup>ru</sup> (Rab38, member of RAS oncogene family, ruby allele) - Rat Genome Database

Send us a Message



 Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap)  (beta) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer) Overgo Probe Designer
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: Rab38ru (Rab38, member of RAS oncogene family, ruby allele) Rattus norvegicus
Analyze
Symbol: Rab38ru
Name: Rab38, member of RAS oncogene family, ruby allele
RGD ID: 1600311
Description: The Met1Ile mutation in the Rab38 gene abolishes the translation of the gene resulting in a hypopigmentation phenotype
ASSOCIATED WITH abnormal coat/hair pigmentation; abnormal platelet dense granule number; abnormal surfactant secretion; ASSOCIATED WITH Hermansky-Pudlak syndrome; platelet storage pool deficiency
Type: allele  of Rab38  
Previously known as: R; R_mapped; Rab38ru; red eyed dilution; Ruby; Ruby or red eyed dilution; ruby or red eyed dilution (mapped)
Is Marker For: Strains:   FH   TM/Kyo  
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Cytogenetic Map1q32RGD


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. TM rats: a model for platelet storage pool deficiency. Hamada S, etal., Exp Anim 1997 Jul;46(3):235-9.
2. The role of Rab38 in platelet dense granule defects. Ninkovic I, etal., J Thromb Haemost. 2008 Dec;6(12):2143-51. Epub 2008 Oct 1.
3. The rat Ruby ( R) locus is Rab38: identical mutations in Fawn-hooded and Tester-Moriyama rats derived from an ancestral Long Evans rat sub-strain. Oiso N, etal., Mamm Genome 2004 Apr;15(4):307-14.
4. Altered lung surfactant system in a Rab38-deficient rat model of Hermansky-Pudlak syndrome. Osanai K, etal., Am J Physiol Lung Cell Mol Physiol. 2010 Feb;298(2):L243-51. Epub 2009 Nov 6.
5. Exogenous gene transfer of Rab38 small GTPase ameliorates aberrant lung surfactant homeostasis in Ruby rats. Osanai K, etal., Respir Res. 2017 Apr 24;18(1):70. doi: 10.1186/s12931-017-0549-2.

Genomics

Allelic Variants
Name Chromosome Start Pos End Pos Reference Nucleotide Variant Nucleotide Variant Type Assembly
Rab38ru-var1 chr1 142182614 142182614 G A point_mutation mRatBN7.2
Rab38ru-var1 chr1 152072764 152072764 G A point_mutation Rnor_6.0

Related Rat Strains
The following Strains have been annotated to Rab38ru


Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_145774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles


Additional Information

Database Acc Id Source(s)
IMAGE_CLONE IMAGE:7099841 IMAGE-MGC_LOAD
MGC_CLONE MGC:91458 IMAGE-MGC_LOAD
NCBI Gene 252916

RGD Curation Notes
Note Type Note Reference
gene_mutations_overexpression exon1 - mutation in translation initiation codon ATG > ATA, Met:Ile 1300411