Phenotypes Associated with This Genotype

Genotype
MGI:3029356

• Allelic Composition: Slc6a6^tm1Dhau/Slc6a6^tm1Dhau
• Genetic Background: involves: 129X1/SvJ * C57BL/6J

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

homeostasis/metabolism

decreased taurine level ( J:74276 )

• taurine concentrations were decreased by ~74% in the kidney, liver, and eye

• taurine concentrations were decreased by >95% in skeletal and heart muscle

decreased circulating taurine level ( J:74276 )

• plasma taurine concentrations were decreased by >74%

reproductive system

reduced female fertility ( J:74276 )

♀ • male mice were fertile

vision/eye

retina photoreceptor degeneration ( J:74276 )

• advanced stages of photoreceptor degeneration observed at 1 to 2 months of age

increased susceptibility to age-related retinal degeneration ( J:74276 )

• at 2 weeks of age, the outer nuclear layer was largely intact, the inner photoreceptor segments were much smaller than those of wild-type

• progressive degeneration of outer nuclear layer thickness from postnatal day 14 through 6 weeks of age

abnormal vision ( J:74276 )

• only residual electrical activity detected by electroretinogragy (ERG) between 2 and 4 weeks of age

• no ERG signal detected at 6 weeks of age

nervous system

retina photoreceptor degeneration ( J:74276 )

• advanced stages of photoreceptor degeneration observed at 1 to 2 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinitis pigmentosa		DOID:10584	OMIM:268000 OMIM:PS268000	J:74276