Phenotypes associated with this allele

• Allele Symbol: Slc30a3^tm1Rpa
• Allele Name: targeted mutation 1, Richard D Palmiter
• Allele ID: MGI:1859820
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc30a3^tm1Rpa/Slc30a3^tm1Rpa	involves: 129S7/SvEvBrd * C57BL/6	MGI:3029270
hm2	Slc30a3^tm1Rpa/Slc30a3^tm1Rpa	involves: 129S7/SvEvBrd * C57BL/6 * SJL	MGI:4366953
ht3	Slc30a3^tm1Rpa/Slc30a3^+	involves: 129S7/SvEvBrd * C57BL/6	MGI:3848800
cx4	Slc30a3^tm1Rpa/Slc30a3^tm1Rpa Tg(APPSWE)2576Kha/0	involves: 129S7/SvEvBrd * C57BL/6 * SJL	MGI:3029279

Genotype
MGI:3029270

hm1

• 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

Genotype
MGI:4366953

hm2

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

homeostasis/metabolism

decreased brain zinc level ( J:76863 )

• zinc is not observed in the hippocampus and cerebral cortex, even in the normally zinc-rich mossy fibers

• total zinc content of cerebrum is reduced by about 30%

Genotype
MGI:3848800

ht3

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

homeostasis/metabolism

decreased brain zinc level ( J:53059 )

• heterozygotes display a ~10% reduction in total zinc levels in the hippocampus and cortex relative to wild-type mice

• Timm stain is reduced in the hippocampus, neocortex, piriform cortex, amygdala, entorhinal cortex, striatum, olfactory bulb, and cochlear nucleus of heterozygous mutant mice

• in the hippocampus, Timm staining is reduced 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

• Timm-staining is reduced within the synaptic vesicles of heterozygous mutant mossy fiber boutons

• TSQ fluorescenceis reduced by 47% in the hilus, 39% in the CA3 region, and 50% in the CA1 region of heterozygous mutant hippocampi

Genotype
MGI:3029279

cx4

• Allelic Composition: Slc30a3^tm1Rpa/Slc30a3^tm1Rpa; Tg(APPSWE)2576Kha/0
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL

nervous system

amyloid beta deposits ( J:76863 )

• plaque formation and insoluble amyloid beta levels are reduced relative to hemizygous Tg(APPSWE)2576HKahs mice that carried two wild copies of Slc30a3

• no sexual difference in synaptic zinc levels, plaque formation, or insoluble amyloid beta levels

• plaques are smaller in size than in single Tg(APPSWE)2576Kha hemizygotes

• mutants exhibit an increased ratio of souluble/insoluble amyloid beta at 18 months of age compared to single Tg(APPSWE)2576Kha hemizygotes

homeostasis/metabolism

amyloid beta deposits ( J:76863 )

• plaque formation and insoluble amyloid beta levels are reduced relative to hemizygous Tg(APPSWE)2576HKahs mice that carried two wild copies of Slc30a3

• no sexual difference in synaptic zinc levels, plaque formation, or insoluble amyloid beta levels

• plaques are smaller in size than in single Tg(APPSWE)2576Kha hemizygotes

• mutants exhibit an increased ratio of souluble/insoluble amyloid beta at 18 months of age compared to single Tg(APPSWE)2576Kha hemizygotes

decreased brain zinc level ( J:76863 )

• males and females exhibit a decrease in levels of synaptic and total zinc compared to single Tg(APPSWE)2576Kha hemizygotes