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

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Gene: Rab38ru (Rab38, member of RAS oncogene family, ruby allele) Rattus norvegicus
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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; Rab38^[ru]; 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

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
FH     TM/Kyo    


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