Journal of Veterinary Medical Science
Online ISSN : 1347-7439
Print ISSN : 0916-7250
Laboratory Animal Science
Identification of the Rat Rex Mutation as a 7-bp Deletion at Splicing Acceptor Site of the Krt71 Gene
Takashi KURAMOTORyuji HIRANOMitsuru KUWAMURATadao SERIKAWA
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キーワード: Krt71, mutation, rat, wavy hair
ジャーナル フリー

72 巻 (2010) 7 号 p. 909-912

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The rat autosomal dominant Rex (Re) mutation on chromosome 7 causes curly hair in Re/+ and hair loss in Re/Re rats. Histopathologically, the Re/+ rat showed dilatation of the hair follicle and hairs with irregularly-coated cuticles, and the Re/Re rat showed more severe effects. We identified Re as a 7-bp deletion at the splicing acceptor site of intron 1 of the keratin 71 (Krt71) gene, which is located within the Re critical chromosomal region and plays an important role in hair formation. The deletion provoked a 6-amino acid in-frame deletion (p.Val149_Gln154del) in the α-helical rod domain of KRT71 protein. Identification of the Re mutation (Krt71Re) enables us to further understand the biological function of KRT71.

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