TY - JOUR AU - Jokela, Heli AU - Hakkarainen, Janne AU - Kätkänaho, Laura AU - Pakarinen, Pirjo AU - Ruohonen, Suvi T AU - Tena-Sempere, Manuel AU - Zhang, Fu-Ping AU - Poutanen, Matti PY - 2017 DO - 10.1038/s41598-017-16618-5 UR - http://hdl.handle.net/10668/11849 T2 - Scientific reports AB - HSD17B1 is a steroid metabolising enzyme. We have previously generated knockout mice that had the entire coding region of Hsd17b1 replaced with lacZ-neo cassette (Hsd17b1-LacZ/Neo mice). This resulted in a 90% reduction of HSD17B1 activity, associated... LA - en PB - Nature Publishing Group KW - 17-hydroxysteroid dehydrogenases KW - Alleles KW - Disease models, animal KW - Gene deletion KW - Animals KW - Gene expression KW - Genetic association studies KW - Genetic Loci KW - Glycosaminoglycans KW - Lysosomal storage diseases KW - Lysosomes KW - Male KW - Mice KW - Mucopolysaccharidosis III KW - Phenotype TI - Deleting the mouse Hsd17b1 gene results in a hypomorphic Naglu allele and a phenotype mimicking a lysosomal storage disease. TY - research article VL - 7 ER -