Phenotypes Associated with This Genotype

Genotype
MGI:3841123

• Allelic Composition: Slc13a1^tm1Mark/Slc13a1⁺
• Genetic Background: involves: 129T2/SvEms * C57BL/6J

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

homeostasis/metabolism

hyposulfatemia ( J:86561 )

• heterozygotes display a >40% reduction of serum sulfate concentrations relative to wild-type littermates

increased bile salt level ( J:86561 )

• heterozygotes show a 2- and >4-fold increase in serum levels of murocholic and taurocholic bile acids, respectively, relative to wild-type mice

increased urine sulfate level ( J:86561 )

• heterozygotes display a higher fractional excretion index (FEI) for SO₄^2- than wild-type mice

abnormal enzyme/coenzyme activity ( J:86561 )

• heterozygotes display a 1.4- to 1.7-fold increase in the level of phenol sulfotransferase (ST) activity relative to wild-type littermates

renal/urinary system

increased urine sulfate level ( J:86561 )

• heterozygotes display a higher fractional excretion index (FEI) for SO₄^2- than wild-type mice

abnormal renal reabsorption ( J:86561 )

• heterozygotes show a ~50% reduction of Na⁺-dependent SO₄^2- uptake in renal (and ileal) BBMVs relative to wild-type littermates

• in contrast, Na⁺-independent SO₄^2- uptake and Na⁺-dependent glucose uptake remain unaffected relative to wild-type controls

behavior/neurological

clonic seizures ( J:86561 )

• at ~8 months of age, 5% of homozygotes exhibit spontaneous clonic seizures

nervous system

clonic seizures ( J:86561 )

• at ~8 months of age, 5% of homozygotes exhibit spontaneous clonic seizures