Phenotypes Associated with This Genotype

Genotype
MGI:6476699

• Allelic Composition: Ids^tm1Dkji/Y
• Genetic Background: involves: 129 * C57BL/6

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

cellular

abnormal lysosome physiology ( J:294523 )

♂ • lysosomal vacuolization is apparent in the stria vascularis and basilar membrane

♂ • however, lysosomal vacuoles are not seen in the stria vascularis

hearing/vestibular/ear

abnormal Reissner membrane morphology ( J:294523 )

♂ • plumping of cells is seen in the Reissner membrane

♂ • cytoplasm vacuolation of both endothelial and mesothelial cells of Reissner membrane

abnormal basilar membrane morphology ( J:294523 )

♂ • lysosomal vacuolization is apparent in the basilar membrane

abnormal spiral ligament morphology ( J:294523 )

♂ • lysosomal vacuolization is apparent in the spiral ligament

middle ear effusion ( J:294523 )

♂ • soft tissue density occupies more space in the middle ear indicating middle ear effusion

♂ • enzyme-replacement therapy reduces the soft tissue density in the middle ear

abnormal tympanic membrane morphology ( J:294523 )

♂ • thickening of the tympanic membrane is seen at 17, but not 7, weeks of age

increased or absent threshold for auditory brainstem response ( J:294523 )

♂ • hearing thresholds for click sounds and tone bursts of 8, 16, and 32 kHz are higher than in wild-type mice at 17 weeks of age

♂ • however, mice exhibit good hearing at 7 weeks of age

♂ • enzyme-replacement treatment for 5 and 10 weeks returns hearing thresholds to similar levels as in wild-type mice

homeostasis/metabolism

middle ear effusion ( J:294523 )

♂ • soft tissue density occupies more space in the middle ear indicating middle ear effusion

♂ • enzyme-replacement therapy reduces the soft tissue density in the middle ear

abnormal glycosaminoglycan level ( J:294523 )

♂ • mice show a 5-fold increase in glycosaminoglycan (GAG) levels in ear tissue at 17 weeks of age

♂ • GAG content is elevated in the cartilaginous matrix of the osseous labyrinth

♂ • enzyme-replacement therapy results in a slight decrease in GAG level in ear tissue

nervous system

abnormal cochlear ganglion morphology ( J:294523 )

♂ • reduction in the number of ganglion cells is seen and the remaining ganglion cells exhibit pale cytoplasm

♂ • parenchymal loss of the spiral ganglion

skeleton

abnormal spiral ligament morphology ( J:294523 )

♂ • lysosomal vacuolization is apparent in the spiral ligament

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
mucopolysaccharidosis II		DOID:12799	OMIM:309900	J:294523