Kyoto Rhino Rats Derived by ENU Mutagenesis Undergo Congenital Hair Loss and Exhibit Focal Glomerulosclerosis

January 2011 in “ EXPERIMENTAL ANIMALS ”

Takashi Kuramoto, Mitsuru Kuwamura, Fumi Tagami, Tomoji Mashimo, Masato Nose, Tadao Serikawa

congenital hair loss focal glomerulosclerosis ENU mutagenesis Hr gene nonsense mutation S413X HR protein hair follicle cycling cystic hair follicles proteinuria hair loss kidney lesions wrinkled skin

TLDR A new rat strain with a specific gene mutation causes hair loss and kidney issues.

The study characterized a novel mutant rat strain, F344-Hrkrh, created through ENU mutagenesis, which exhibited congenital hair loss and focal glomerulosclerosis (FGS) due to a nonsense mutation (S413X) in the Hr gene. This mutation led to a truncated HR protein, resulting in premature hair follicle cycling and cystic hair follicles. By 8 weeks, the rats showed hair loss, and by 4 months, they developed wrinkled skin and long curved nails. Histopathological analysis of 40-week-old rats revealed significant kidney lesions and proteinuria. The F344-Hrkrh strain was suggested as a model for studying skin diseases and FGS pathogenesis, as it did not display autoimmune symptoms seen in other models with similar mutations.

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