Tmprss6^m2Btlr

This mutation was discovered by its visible phenotype among the G3 progeny of an ENU mutagenized male mouse. The mutation has been identified as a C to T transition in the 15th of the gene's 18 exons, at nucleotide position 2004 (Genbank Accession NM_027902), that converts the codon (CGA) for arginine 599 into a premature termination codon (TGA) (R599Ter), truncating the protein by 212 amino acids at its C terminus and interrupting the protease domain. (J:140084)