Phenotypes Associated with This Genotype

Genotype
MGI:3609722

• Allelic Composition: Slc17a5^tm1Lex/Slc17a5^tm1Lex
• Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

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

mortality/aging

premature death ( J:103485 )

• homozygotes are sickly and some die at 4 weeks of age

growth/size/body

decreased body size ( J:103485 )

• homozygotes are small and sickly

decreased body weight ( J:103485 )

behavior/neurological

decreased exploration in new environment ( J:103485 )

• exhibit impaired exploratory behavior

behavioral despair ( J:103485 )

• exhibit an increased depressive-like response in a suspension test

abnormal locomotor behavior ( J:103485 )

• exhibit impaired locomotor activity

abnormal gait ( J:103485 )

• exhibit a shaky and lumbering gait

hearing/vestibular/ear

impaired hearing ( J:103485 )

• exhibit hearing deficits

cellular

abnormal cell morphology ( J:103485 )

• exhibit lesions in various tissues that are suggestive of lysosomal storage disease

• exhibit cytoplasmic vacuolization in various tissues

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
lysosomal storage disease		DOID:3211		J:103485