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Table 2 Hurler syndrome mouse model in the literature and the present study

From: Decreased performance in IDUA knockout mouse mimic limitations of joint function and locomotion in patients with Hurler syndrome

Deleted locus Properties Reference
Exon 6 • Targeted disruption [14], Clarke K
• No detectable IDUA enzyme activity
• Increased urinary GAGs
• Flattened facial profile
• Thickening of the digits
Exon 6 • Targeted disruption [13], Ohmi K
• No phenotype data
Between exon 8 and 9 • Knock-in mouse that carries IDUA-W402X mutation [15], Wang D
• No detectable IDUA enzyme activity
• Increased GAGs in the urine and tissues
From a part of exon 6 to a part of exon 9 • Targeted disruption This study
• Increased urine GAGs excretion
• Increased BMD and BMC