Phenotypes Associated with This Genotype

Genotype
MGI:6474227

• Allelic Composition: Ids^tm1Dkji/Y
• Genetic Background: involves: C57BL/6

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

mortality/aging

premature death ( J:294717 )

♂ • most mice die before 1 year of age

growth/size/body

abnormal facial morphology ( J:294717 )

♂ • external facial appearance is different from wild-type mice at 5-6 weeks of age

coarse facial features ( J:294717 )

♂ • coarse facial features are seen at 5-6 weeks of age

large face ( J:294717 )

♂ • face is relatively larger than in wild-type mice

abnormal snout morphology ( J:294717 )

♂ • the snout is more prominent

abnormal body weight ( J:294717 )

♂ • mice are heavier from 4 to 11 weeks of age but after 12 weeks of age, wild-type mice become heavier

behavior/neurological

decreased locomotor activity ( J:294717 )

♂ • physical activity declines around 25 to 30 weeks of age

craniofacial

abnormal facial morphology ( J:294717 )

♂ • external facial appearance is different from wild-type mice at 5-6 weeks of age

coarse facial features ( J:294717 )

♂ • coarse facial features are seen at 5-6 weeks of age

large face ( J:294717 )

♂ • face is relatively larger than in wild-type mice

abnormal snout morphology ( J:294717 )

♂ • the snout is more prominent

homeostasis/metabolism

abnormal glycosaminoglycan level ( J:294717 )

♂ • elevated CAG content is seen in a variety of tissues including the liver, lung, heart, brain, spleen, kidney and skin

♂ • mice treated with a pseudotyped, recombinant adeno-associated virus vector encoding the human IDS gene show clearance of accumulated lysosomal GAG

increased urine glycosaminoglycan level ( J:294717 )

♂ • urinary GAG excretion is greater beginning at 4 weeks of age and is most prominent at 16 and 38 weeks of age

integument

alopecia ( J:294717 )

♂ • sporadic alopecia is seen at 5-6 weeks of age

limbs/digits/tail

abnormal hand joint morphology ( J:294717 )

♂ • the articulation of the foot is restricted in the forelimb and resembles a clawed hand

abnormal hindlimb joint morphology ( J:294717 )

♂ • mice show limitations of the hind limb joint when the tail is pulled back at 7-8 weeks of age

renal/urinary system

increased urine glycosaminoglycan level ( J:294717 )

♂ • urinary GAG excretion is greater beginning at 4 weeks of age and is most prominent at 16 and 38 weeks of age

skeleton

abnormal hand joint morphology ( J:294717 )

♂ • the articulation of the foot is restricted in the forelimb and resembles a clawed hand

abnormal hindlimb joint morphology ( J:294717 )

♂ • mice show limitations of the hind limb joint when the tail is pulled back at 7-8 weeks of age

cellular

abnormal foam cell morphology ( J:294717 )

♂ • many foamy cells are seen in the liver, kidney, lung, heart, brain and lymph node extracts, indicating lysosomal storage

abnormal lysosome physiology ( J:294717 )

♂ • lysosomal accumulation of glycosaminoglycans (GAG)

♂ • many foamy cells are seen in the liver, kidney, lung, heart, brain and lymph node extracts, indicating lysosomal storage

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
mucopolysaccharidosis II		DOID:12799	OMIM:309900	J:294717