The Mouse Frizzy (Fr) And Rat ‘Hairless’ (FrCR) Mutations Are Natural Variants Of Protease Serine S1 Family Member 8 (Prss8)

February 2010 in “ Experimental Dermatology ”

Damek V. Spacek, Amarilis F. Perez, Katelynn Ferranti, Lillya K.‐L. Wu, Daniel M. Moy, David Magnan, Thomas R. King

protease serine S1 family member 8 Prss8 frizzy mutation hairless mutation T to A transversion valine to aspartate substitution 12-bp deletion

TLDR The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.

The study investigated the genetic basis of the mouse frizzy (fr) and rat ‘hairless’ (frCR) mutations, identifying them as natural variants of the protease serine S1 family member 8 (Prss8). Researchers focused on a 0.6-Mb region containing fewer than 30 genes and discovered a T to A transversion in Prss8 associated with the fr allele, leading to a valine to aspartate substitution. Crossbreeding experiments confirmed that this mutation was responsible for the frizzy phenotype. Additionally, a 12-bp deletion in the Prss8 gene was found in the ‘hairless’ rat, confirming the orthologous nature of these mutations. However, no changes were detected in the Prss8 coding sequences of the ‘fuzzy’ rat variant.

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