Mouse Genome Informatics
hm
    Iduatm1Clk/Iduatm1Clk
involves: 129S1/Sv * 129X1/SvJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• early deaths beginning around 25 weeks of age
• average life span around 48 weeks
• all homozygotes dead by 85 weeks

growth/size
• broadening of face beginning around 4 weeks of age (J:39522)
• foreshortened snout (J:47999)
• protruding nasal bridge (J:47999)
• widely set eyes (J:47999)
• normal growth until about 30 weeks of age after which time growth slows considerably

craniofacial
• broadened cranium
• broadening of face beginning around 4 weeks of age (J:39522)
• foreshortened snout (J:47999)
• protruding nasal bridge (J:47999)
• widely set eyes (J:47999)

limbs/digits/tail
• swelling of limbs
• thickened digits
• increased numbers of chondrocytes
• tibial growth plate thickened at 6 weeks of age

skeleton
• irregular primary trabeculae
• retained cartilage with ossified bone
• tibial growth plate thickened at 6 weeks of age
• increased numbers of chondrocytes
• hypertrophic zone somewhat disorganized
• broadened cranium
• increased thickness (J:39522)
• flaring of anterior end of ribs and general widening (J:47999)
• thoracic kyphosis apparent at 57 weeks of age
• reduced tapering
• lysosomal storage in chondrocytes of articular surfaces and trachea beginning around 4 weeks of age
• hip dislocation in some older mice

behavior/neurological
• declining mobility with age
• dragging of hind quarters

cellular
• abnormal lysosomal storage in all tissues examined particularly the reticuloendothelial system
• 15-20% of hepatocyte cytoplasm taken up by lysosomes by 8 weeks of age

nervous system
• cytoplasmic vacuolation seen in neurons of the cerebral cortex at 8 weeks of age (J:39522)
• increased ganglioside levels (J:47999)
• cytoplasmic vacuolation seen at 8 weeks of age
• progressive loss of Purkinje cells with age

liver/biliary system
• by 8 weeks of age

homeostasis/metabolism
• 3 fold increase in excretion of glycosaminoglycan

vision/eye
• thickened periorbital tissue sometimes causes partial closure of eyes

cardiovascular system
• sometimes observed on autopsy after death

renal/urinary system
• 3 fold increase in excretion of glycosaminoglycan

integument
• thin coat
• tattered appearance

Mouse Models of Human Disease
OMIM IDRef(s)
Hurler Syndrome 607014 J:39522 , J:47999