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
|
• MPS I-H
|
• 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
|