RGD Reference Report - 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. - Rat Genome Database

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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.

Authors: Oiso, N  Riddle, SR  Serikawa, T  Kuramoto, T  Spritz, RA 
Citation: Oiso N, etal., Mamm Genome 2004 Apr;15(4):307-14.
RGD ID: 1300411
Pubmed: PMID:15112108   (View Abstract at PubMed)
DOI: DOI:10.1007/s00335-004-2337-9   (Journal Full-text)

Hermansky-Pudlak syndrome (HPS) is a group of rare, recessive disorders in which oculocutaneous albinism, progressive pulmonary fibrosis, bleeding diathesis, and other abnormalities result from defective biogenesis of multiple cytoplasmic organelles. Seven different HPS genes are known in humans; in mouse, at least 16 loci are associated with HPS-like mutant phenotypes. In the rat, only two HPS models are known, Fawn-hooded (FH) and Tester Moriyama (TM), non-complementing strains in which HPS-like hypopigmentation and platelet storage pool deficiency result from a mutation of the Ruby (red eyed dilution; R) locus on Chromosome (Chr) 1. We have identified the R locus as the Rab38 gene, establishing that rat R is homologous to mouse chocolate ( cht). Further, we show that FH and TM rats have identical Rab38 Met1Ile mutations, occurring on an identical Chr 1 marker allele haplotype, indicating that these two strains derive from a common ancestor. This ancestor appears to have been a sub-strain of the outbred Long Evans (LE) strain, and several modern LE sub-strains carry the Rab38 Met1Ile R mutation on the same Chr 1 marker haplotype. These findings have significant implications for the many past and ongoing studies that involve the FH and LE-derivative rat strains. Hermansky-Pudlak syndrome (HPS; MIM 203300) is a group of autosomal recessive diseases in which oculocutaneous albinism (OCA), progressive and fatal pulmonary fibrosis, and bleeding diathesis due to platelet storage pool deficiency result from defects in the biogenesis of specific cytoplasmic organelles and granules: melanosomes, lysosomes, and platelet dense granules. In humans, seven different HPS genes are known. In the mouse, at least 16 loci associated with HPS-like mutant phenotypes are known, seven of which are homologous to the human HPS loci.

Phenotype Annotations    Click to see Annotation Detail View

Mammalian Phenotype

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
Rab38Ratabnormal coat/hair pigmentation  IAGP DNA:point mutation:exon:p.M1IRGD 
Rab38ruRatabnormal coat/hair pigmentation  IAGP DNA:point mutation:exon:p.M1I ratRGD 
Objects Annotated

Genes (Rattus norvegicus)
Rab38  (RAB38, member RAS oncogene family)
Rab38ru  (Rab38, member of RAS oncogene family, ruby allele)

Objects referenced in this article
Strain FH null Rattus norvegicus
Strain FHH Fawn Hooded Hypertensive Rattus norvegicus
Strain TM/Kyo tester moriyama rat Rattus norvegicus

Additional Information