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Phenotypes Associated with This Genotype
Genotype
MGI:3587410
Allelic
Composition
Iduatm1Clk/Iduatm1Clk
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Iduatm1Clk mutation (2 available); any Idua mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• early deaths beginning around 25 weeks of age (J:47999)
• average life span around 48 weeks (J:47999)
• all homozygotes dead by 85 weeks (J:47999)
• early deaths beginning around 25 weeks of age (J:47999)
• average life span around 48 weeks (J:47999)
• all homozygotes dead by 85 weeks (J:47999)

growth/size/body
• broadening of face beginning around 4 weeks of age (J:39522)
• 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)
• 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 (J:47999)
• normal growth until about 30 weeks of age after which time growth slows considerably (J:47999)

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

limbs/digits/tail
• swelling of limbs (J:47999)
• swelling of limbs (J:47999)
• broadened (J:39522)
• broadened (J:39522)
• thickened digits (J:39522)
• thickened digits (J:39522)
• tibial growth plate thickened at 6 weeks of age (J:47999)
• increased numbers of chondrocytes (J:47999)
• tibial growth plate thickened at 6 weeks of age (J:47999)
• increased numbers of chondrocytes (J:47999)

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

behavior/neurological
• declining mobility with age (J:47999)
• declining mobility with age (J:47999)
• dragging of hind quarters (J:47999)
• dragging of hind quarters (J:47999)

cellular
• abnormal lysosomal storage in all tissues examined particularly the reticuloendothelial system (J:39522)
• 15-20% of hepatocyte cytoplasm taken up by lysosomes by 8 weeks of age (J:39522)
• abnormal lysosomal storage in all tissues examined particularly the reticuloendothelial system (J:39522)
• 15-20% of hepatocyte cytoplasm taken up by lysosomes by 8 weeks of age (J:39522)

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

liver/biliary system
• by 8 weeks of age (J:39522)
• by 8 weeks of age (J:39522)

homeostasis/metabolism
• 3 fold increase in excretion of glycosaminoglycan (J:39522)
• 3 fold increase in excretion of glycosaminoglycan (J:39522)

vision/eye
• thickened periorbital tissue sometimes causes partial closure of eyes (J:47999)
• thickened periorbital tissue sometimes causes partial closure of eyes (J:47999)

cardiovascular system
• sometimes observed on autopsy after death (J:47999)
• sometimes observed on autopsy after death (J:47999)

renal/urinary system
• 3 fold increase in excretion of glycosaminoglycan (J:39522)
• 3 fold increase in excretion of glycosaminoglycan (J:39522)

integument
• thin coat (J:47999)
• thin coat (J:47999)
• tattered appearance (J:47999)
• tattered appearance (J:47999)

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory