Fig. 1

Generation of IDUA knockout mouse and gross photos of external morphology. a The wild-type allele (upper) of the IDUA gene consists of 14 exons, while the targeted allele (lower) includes exon 1 to a part of exon 6 and a part of exon 9 to 14. The IDUA KO construct (lower) was integrated into the mouse IDUA gene locus by homologous recombination. b Genomic DNA obtained from 11 F1 offspring mice were digested EcoRI. Southern blotting analysis was performed with 5’-probe (896 bp, hybridized to the left arm region of both alleles). Wild-type mice showed 10 Kbp, and the heterozygous type showed 10 and 4.2 Kbp. c PCR analysis of the IDUA gene was performed in tail genomic DNA to confirm the expected deletion of the IDUA gene. d The IDUA KO mouse showed a flattened facial profile, more blunt nose, less prominent eyes, rough fur, and thickening of the digits