Phenotypes Associated with This Genotype

Genotype
MGI:3587410

• Allelic Composition: Idua^tm1Clk/Idua^tm1Clk
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

respiratory system

prominent nasal bridge ( J:47999 )

• protruding nasal bridge

mortality/aging

premature death ( J:47999 )

• early deaths beginning around 25 weeks of age

• average life span around 48 weeks

• all homozygotes dead by 85 weeks

growth/size/body

broad face ( J:39522 )

• broadening of face beginning around 4 weeks of age

prominent nasal bridge ( J:47999 )

• protruding nasal bridge

short snout ( J:47999 )

• foreshortened snout

postnatal growth retardation ( J:47999 )

• normal growth until about 30 weeks of age after which time growth slows considerably

craniofacial

increased cranium width ( J:47999 )

• broadened cranium

broad face ( J:39522 )

• broadening of face beginning around 4 weeks of age

prominent nasal bridge ( J:47999 )

• protruding nasal bridge

short snout ( J:47999 )

• foreshortened snout

limbs/digits/tail

abnormal limb morphology ( J:47999 )

• swelling of limbs

increased autopod size ( J:39522 )

• broadened

abnormal digit morphology ( J:39522 )

• thickened digits

hip dislocation ( J:47999 )

• hip dislocation in some older mice

abnormal tibia morphology ( J:47999 )

• tibial growth plate thickened at 6 weeks of age

• increased numbers of chondrocytes

skeleton

hip dislocation ( J:47999 )

• hip dislocation in some older mice

abnormal long bone morphology ( J:47999 )

• irregular primary trabeculae

• retained cartilage with ossified bone

abnormal tibia morphology ( J:47999 )

• tibial growth plate thickened at 6 weeks of age

• increased numbers of chondrocytes

abnormal long bone diaphysis morphology ( J:47999 )

• thickened diaphyses

abnormal long bone hypertrophic chondrocyte zone ( J:47999 )

• hypertrophic zone somewhat disorganized

abnormal axial skeleton morphology ( J:47999 )

increased cranium width ( J:47999 )

• broadened cranium

abnormal rib morphology ( J:39522 , J:47999 )

• increased thickness (J:39522)

• flaring of anterior end of ribs and general widening (J:47999)

kyphosis ( J:47999 )

• thoracic kyphosis apparent at 57 weeks of age

abnormal vertebrae morphology ( J:47999 )

• reduced tapering

increased osteoblast cell number ( J:47999 )

abnormal chondrocyte morphology ( J:39522 )

• lysosomal storage in chondrocytes of articular surfaces and trachea beginning around 4 weeks of age

behavior/neurological

abnormal gait ( J:47999 )

• dragging of hind quarters

decreased locomotor activity ( J:47999 )

• declining mobility with age

cellular

lysosomal protein accumulation ( J:39522 )

• 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

abnormal neuron morphology ( J:39522 , J:47999 )

• cytoplasmic vacuolation seen in neurons of the cerebral cortex at 8 weeks of age (J:39522)

• increased ganglioside levels (J:47999)

abnormal Purkinje cell morphology ( J:39522 )

• cytoplasmic vacuolation seen at 8 weeks of age

Purkinje cell degeneration ( J:47999 )

• progressive loss of Purkinje cells with age

liver/biliary system

pale liver ( J:39522 )

• by 8 weeks of age

homeostasis/metabolism

increased urine glycosaminoglycan level ( J:39522 )

• 3 fold increase in excretion of glycosaminoglycan

vision/eye

abnormal eye morphology ( J:47999 )

• thickened periorbital tissue sometimes causes partial closure of eyes

ocular hypertelorism ( J:47999 )

• widely set eyes

cardiovascular system

congestive heart failure ( J:47999 )

• sometimes observed on autopsy after death

renal/urinary system

increased urine glycosaminoglycan level ( J:39522 )

• 3 fold increase in excretion of glycosaminoglycan

integument

sparse hair ( J:47999 )

• thin coat

disheveled coat ( J:47999 )

• tattered appearance

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
mucopolysaccharidosis I		DOID:12802		J:39522 , J:47999