Mouse Genome Informatics
hm
    Slc6a6tm1Dhau/Slc6a6tm1Dhau
involves: 129X1/SvJ * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
homeostasis/metabolism
• taurine concentrations were decreased by ~74% in the kidney, liver, and eye
• taurine concentrations were decreased by >95% in skeletal and heart muscle
• plasma taurine concentrations were decreased by >74%

reproductive system
• male mice were fertile (J:74276)

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

Mouse Models of Human Disease
OMIM IDRef(s)
Retinitis Pigmentosa; RP 268000 J:74276