Phenotypes Associated with This Genotype

Genotype
MGI:5440736

• Allelic Composition: Ids^tm1Eto/Ids^tm1Eto
• Genetic Background: involves: C57BL/6

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

behavior/neurological

abnormal spatial working memory ( J:188058 )

• in a Y-maze, mice exhibit abnormal spontaneous alternation and behavior compared with control mice

• however, intraventricular treatment with enzyme replacement therapy exhibit normal arm entry levels

abnormal gait ( J:188058 )

• unsteady with short-strides

short stride length ( J:188058 )

craniofacial

coarse facial features ( J:188058 )

• coarse face

• however, intraventricular treatment with enzyme replacement therapy partially rescues phenotype

round snout ( J:188058 )

• rounded nose

nervous system

brain vacuoles ( J:188058 )

• in Purkinje and margin cells of the cerebellum

• however, intraventricular treatment with enzyme replacement therapy exhibit fewer vacuoles in the brain, liver and testis

vision/eye

macrophthalmia ( J:188058 )

• large, round eyes

integument

abnormal coat/ hair morphology ( J:188058 )

• mice exhibit poor-quality hair compared with wild-type mice

• however, intraventricular treatment with enzyme replacement therapy partially rescues phenotype

skeleton

abnormal bone structure ( J:188058 )

• dysostosis in the head

exostosis ( J:188058 )

• hyperostosis

growth/size/body

coarse facial features ( J:188058 )

• coarse face

• however, intraventricular treatment with enzyme replacement therapy partially rescues phenotype

round snout ( J:188058 )

• rounded nose

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
mucopolysaccharidosis II		DOID:12799	OMIM:309900	J:188058