Phenotypes Associated with This Genotype

Genotype
MGI:3625957

• Allelic Composition: Ids^tm1Muen/Y
• Genetic Background: Not Specified

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

mortality/aging

premature death ( J:108242 )

♂ • affected mice die by 60 - 70 weeks of age

cellular

lysosomal protein accumulation ( J:108242 , J:108761 )

♂ • accumulation of glycosaminoglycans is detectable in the liver, spleen, and lung at 1 and 3 days of age and becomes progressively more severe with accumulation in the liver, spleen, lung, heart, kidney, and skeletal muscle at 3 and 9 months of age (J:108242)

♂ • accumulation of glycosaminoglycans is also seen in the choroid plexus and ventricular regions of the brain (J:108242)

♂ • accumulation of glycosaminoglycans is seen in the liver, kidney, lung, and heart valves (J:108761)

♂ • at 4 weeks of age vacuolization of the lymph nodes and synoviocytes in the hindlimbs are seen and at 60 weeks of age widespread vacuolization is seen in many tissues including the heart valves, testes, and cerebellar neurons (J:108761)

growth/size/body

decreased body weight ( J:108242 , J:108761 )

♂ (J:108242)

♂ • body weight of aged mice is 37 +/- 3 g compared to 50 +/- 6 g for wild-type mice (J:108761)

behavior/neurological

increased anxiety-related response ( J:108242 )

♂ • decreased exploration and more time spent in the margins of an open field

abnormal gait ( J:108242 )

♂ • slow and uncertain gait, abnormal walking pattern, and non-overlapping anterior and posterior paw prints

♂ • fail to maintain a straight line through a tunnel

short stride length ( J:108242 )

♂

decreased locomotor activity ( J:108242 )

♂ • slower movement in an open field

nervous system

abnormal brain morphology ( J:108242 )

♂ • cellular vacuolization is seen in the hippocampus, thalamus, cerebellum and brainstem

abnormal neuron morphology ( J:108761 )

♂ • at 60 weeks of age, neuronal necrosis is seen in the brainstem and spinal cord

skeleton

abnormal skeleton morphology ( J:108242 )

♂ • defects are caused by lysosomal accumulation of glycosaminoglycans

abnormal cranium morphology ( J:108242 )

♂ • the distance between the base of the ears is increased and the distance between the maxilla and zygoma is decreased

decreased cranium height ( J:108242 )

♂

joint swelling ( J:108761 )

♂ • synoviocytes in the hindlimbs at 4 weeks of age

♂ • swollen hocks at 10 weeks of age

immune system

abnormal lymph node morphology ( J:108761 )

♂ • vacuolization of the lymph nodes at 4 weeks of age

limbs/digits/tail

abnormal digit morphology ( J:108242 , J:108761 )

♂ (J:108242)

♂ • thickened digits at 10 weeks of age (J:108761)

craniofacial

abnormal cranium morphology ( J:108242 )

♂ • the distance between the base of the ears is increased and the distance between the maxilla and zygoma is decreased

decreased cranium height ( J:108242 )

♂

integument

alopecia ( J:108242 )

♂

homeostasis/metabolism

joint swelling ( J:108761 )

♂ • synoviocytes in the hindlimbs at 4 weeks of age

♂ • swollen hocks at 10 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
mucopolysaccharidosis II		DOID:12799	OMIM:309900	J:108242 , J:108761