Mouse Genome Informatics
hm
    Iduatm1.1Kmke/Iduatm1.1Kmke
B6.129-Iduatm1.1Kmke
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• mean lifespan is 69 weeks

skeleton
• the zygomatic arch is slightly thickened at 15 weeks of age and more prominently so at 35 weeks of age compared to in wild-type mice
• femur width is increased 1.13-fold at 15 weeks and 1.37-fold at 35 weeks compared to in wild-type mice
• 15% at 5 weeks but no longer detectable at 35 weeks of age
• 25% at 35 weeks in the femur

cellular
• foamy cells distended by glycosamineglycans (GAGs) accumulation are observed in the liver, spleen, myocardium, aorta, kidney, and lung unlike in wild-type mice
• foamy cell infiltration worsens with age
• at 30 weeks, cytoplasmic inclusions consisting of lysosomal storage material are found in Purkinje cells of the cerebellum and in neurons of the medulla unlike in wild-type mice

adipose tissue
• 28% at 35 weeks

renal/urinary system
• the levels of glycosaminoglycans (GAGs) in the urine is increased 2.5-fold, 3.6-fold, and 5.6-fold at 5, 10, and 30 weeks, respectively, compared to in wild-type mice

craniofacial
• the zygomatic arch is slightly thickened at 15 weeks of age and more prominently so at 35 weeks of age compared to in wild-type mice
• the snout is slightly broadened at 10 to 15 week of age and more prominently broadened at 35 weeks of age compared to in wild-type mice

homeostasis/metabolism
• the levels of glycosaminoglycans (GAGs) in the urine is increased 2.5-fold, 3.6-fold, and 5.6-fold at 5, 10, and 30 weeks, respectively, compared to in wild-type mice

limbs/digits/tail
• femur width is increased 1.13-fold at 15 weeks and 1.37-fold at 35 weeks compared to in wild-type mice
• 15% at 5 weeks but no longer detectable at 35 weeks of age

growth/size
• 28% at 35 weeks

Mouse Models of Human Disease
OMIM IDRef(s)
Hurler Syndrome 607014 J:155619