Phenotypes Associated with This Genotype

Genotype
MGI:4415196

• Allelic Composition: Idua^tm1.1Kmke/Idua^tm1.1Kmke
• Genetic Background: B6.129-Idua^tm1.1Kmke

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

mortality/aging

premature death ( J:155619 )

• mean lifespan is 69 weeks

skeleton

abnormal zygomatic bone morphology ( J:155619 )

• 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

short femur ( J:155619 )

• 15% at 5 weeks but no longer detectable at 35 weeks of age

increased diameter of femur ( J:155619 )

• femur width is increased 1.13-fold at 15 weeks and 1.37-fold at 35 weeks compared to in wild-type mice

increased bone mineral density of femur ( J:155619 )

• 25% increase in bone mineral density of the femur at 35 weeks

cellular

abnormal foam cell morphology ( J:155619 )

• 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

abnormal lysosome morphology ( J:155619 )

• 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

decreased percent body fat/body weight ( J:155619 )

• 28% at 35 weeks

renal/urinary system

increased urine glycosaminoglycan level ( J:155619 )

• 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

abnormal zygomatic bone morphology ( J:155619 )

• 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

broad snout ( J:155619 )

• 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

increased urine glycosaminoglycan level ( J:155619 )

• 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

short femur ( J:155619 )

• 15% at 5 weeks but no longer detectable at 35 weeks of age

increased diameter of femur ( J:155619 )

• femur width is increased 1.13-fold at 15 weeks and 1.37-fold at 35 weeks compared to in wild-type mice

growth/size/body

broad snout ( J:155619 )

• 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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
mucopolysaccharidosis I		DOID:12802		J:155619