This Dp(16)1Yey/Df(16)5Yey mutant strain contains both duplicated and deleted regions of mouse Chromosome 16. The sequence is defined by the SET domain containing 4 (Setd4) gene and the potassium inwardly-rectifying channel, subfamily J, member 6 (Kcnj6) gene. This region is located in one of three mouse chromosome regions orthologous to an extra copy of human Chromosome 21 (Hsa21) implicated in heart defects and cognitive deficits associated with Down Syndrome (DS). Hemizygous Df(16)5Yey/+ mice are fertile, but produce very few mutant progeny at weaning. The inclusion of Dp(16)1Yey gene sequences increases viability of mutant offspring. Df(16)5Yey/+ contains 15 genes orthologous to genes on Hsa21. Dp(16)1Yey/Df(16)5Yey mice perform significantly worse than their wildtype littermate controls in the T-maze and contextual fear conditioning tests. After theta burst stimulation (TBS), synaptic response in brain slices are significantly lower. Learning and memory in Dp(16)1Yey/Df(16)5Yey mice are similar to Df(16)1Yey/+ mice and are not improved with this model.

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Dp(16)1Yey/Df(16)5Yey mutant mice have segment of mouse Chromosome 16 deleted. The sequence is defined by the Setd4 and Kcnj6 genes. These mice may have applications in studies related to understanding the developmental defects associated with Down syndrome.

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