RGD Reference Report - A Tyrosinase missense mutation causes albinism in the Wistar rat. - Rat Genome Database

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A Tyrosinase missense mutation causes albinism in the Wistar rat.

Authors: Blaszczyk, WM  Arning, L  Hoffmann, KP  Epplen, JT 
Citation: Blaszczyk WM, etal., Pigment Cell Res. 2005 Apr;18(2):144-5.
RGD ID: 1599687
Pubmed: PMID:15760344   (View Abstract at PubMed)
DOI: DOI:10.1111/j.1600-0749.2005.00227.x   (Journal Full-text)

Tyrosinase serves as a key enzyme in the synthesis of melanin. In humans mutations in the TYR gene are associated with type 1 oculocutaneous albinism (OCA1) that leads to reduced or absent pigmentation of skin, hair and eye. Various mutations causing OCA in man, mouse, rabbit and cattle have been identified throughout the Tyrosinase gene including nonsense, missense, frameshift and splice site alterations. Here we report a missense substitution at codon R299H in exon 2 of the Tyr gene in the albino Wistar rat. As this very exchange has already been described in OCA patients, our findings reinforce the significance of this region for normal catalytic activity of tyrosinase protein.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
oculocutaneous albinism  ISOTyr (Rattus norvegicus)1599687; 1599687DNA:missense mutation:exon:p.R299H (rat)RGD 
oculocutaneous albinism  IAGP 1599687DNA:missense mutation:exon:p.R299H (rat)RGD 

Gene Ontology Annotations    Click to see Annotation Detail View

Biological Process
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
pigmentation  IMP 1599687 RGD 

Phenotype Annotations    Click to see Annotation Detail View

Mammalian Phenotype

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
absent coat pigmentation  IAGP 1599687DNA:missense mutation:exon:p.R299HRGD 
Objects Annotated

Genes (Rattus norvegicus)
Tyr  (tyrosinase)

Genes (Mus musculus)
Tyr  (tyrosinase)

Genes (Homo sapiens)
TYR  (tyrosinase)


Additional Information