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Phenotypes Associated with This Genotype
Genotype
MGI:3029356
Allelic
Composition
Slc6a6tm1Dhau/Slc6a6tm1Dhau
Genetic
Background
involves: 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc6a6tm1Dhau mutation (0 available); any Slc6a6 mutation (278 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• taurine concentrations were decreased by ~74% in the kidney, liver, and eye (J:74276)
• taurine concentrations were decreased by >95% in skeletal and heart muscle (J:74276)
• taurine concentrations were decreased by ~74% in the kidney, liver, and eye (J:74276)
• taurine concentrations were decreased by >95% in skeletal and heart muscle (J:74276)
• plasma taurine concentrations were decreased by >74% (J:74276)
• plasma taurine concentrations were decreased by >74% (J:74276)

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

vision/eye
• advanced stages of photoreceptor degeneration observed at 1 to 2 months of age (J:74276)
• advanced stages of photoreceptor degeneration observed at 1 to 2 months of age (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 (J:74276)
• progressive degeneration of outer nuclear layer thickness from postnatal day 14 through 6 weeks of age (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 (J:74276)
• progressive degeneration of outer nuclear layer thickness from postnatal day 14 through 6 weeks of age (J:74276)
• only residual electrical activity detected by electroretinogragy (ERG) between 2 and 4 weeks of age (J:74276)
• no ERG signal detected at 6 weeks of age (J:74276)
• only residual electrical activity detected by electroretinogragy (ERG) between 2 and 4 weeks of age (J:74276)
• no ERG signal detected at 6 weeks of age (J:74276)

nervous system
• advanced stages of photoreceptor degeneration observed at 1 to 2 months of age (J:74276)
• advanced stages of photoreceptor degeneration observed at 1 to 2 months of age (J:74276)

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory