Phenotypes Associated with This Genotype

Genotype
MGI:3029270

• Allelic Composition: Slc30a3^tm1Rpa/Slc30a3^tm1Rpa
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

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

nervous system

abnormal hippocampal mossy fiber morphology ( J:53059 )

• mutant hippocampi display normal mossy fiber bouton ultrastructure, with densely packed clear, round synaptic vesicles, a few dense core vesicles, and numerous mitochondria, but lack histochemically reactive zinc within the synaptic vesicles

abnormal synaptic vesicle morphology ( J:53059 )

• no Timm-staining is observed within synaptic vesicles of homozygous mutant mossy fiber boutons, indicating that histochemically reactive zinc is eliminated from synaptic vesicles

homeostasis/metabolism

abnormal zinc homeostasis ( J:53059 )

• homozygotes exhibit impaired zinc transport into synaptic vesicles

decreased brain zinc level ( J:53059 )

• homozygotes display a ~20% reduction in total zinc levels in the hippocampus and cortex relative to wild-type mice

• Timm stain (a stain for histochemically reactive zinc) is undetectable in the hippocampus, neocortex, piriform cortex, amygdala, entorhinal cortex, striatum, olfactory bulb, and cochlear nucleus of homozygous mutant mice

• in the hippocampus, Timm staining is undetectable in the mossy fibers projecting from dentate granule neurons to the hilus and s lucidum and s oriens of the CA3 region, and in projections to s radiatum and s oriens of the CA1 region

• no Timm-staining is observed within synaptic vesicles of homozygous mutant mossy fiber boutons

• in contrast, Timm staining is readily detectable in the choroid plexus and in convoluted tubule cells of the submaxillary gland, while TSQ fluorescence is still abundant in differentiating spermatids and in beta-islet cells of the pancreas

• TSQ fluorescence (a specific indicator of vesicular zinc) is undetectable in the hilus and CA3 and CA1 regions of mutant hippocampus