Vsx2 is a paired-type homeobox gene that is expressed in retinal progenitor cells throughout development. Mutations in the gene lead to microphthalmia in humans and mice. These Vsx2-SE&Delta; mice carry a CRISPR/Cas9-derived deletion (Mm9 Chr12:85,873,798-85,905,865) of the bipolar neuron-specific circuit super-enhancer (CRC-SE) for the mouse Rr272 (formerly, Vsx2, visual system homeobox 2) gene.&nbsp;The enhancer is designated Rr272 (regulatory region 272). The CRC-SE is a 32 kb region, the end of which is 5 kb upstream of the Vsx2 transcriptional start site. VSX2 protein expression is significantly reduced in homozygotes because bipolar cells are absent, but it is still expressed in the M&uuml;ller glia cell type. The retinas of Vsx2-SE&Delta; homozygotes completely lack bipolar neurons, but all other cell types are normal. Retinal progenitor cell proliferation and M&uuml;ller glial cell development are not altered. These mice are blind because the neurons that connect the photoreceptors to the ganglion cells are missing; they are otherwise normal. The mice do not have microphthalmia. Expression of Vsx2 and other bipolar neuron-specific genes are significantly down-regulated, as determined by RNA-seq of adult retina. This strain is useful in studies of development and retinal circuitry. &nbsp;

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Vsx2-SE&Delta; mice carry a CRISPR/Cas9-derived deletion (Mm9 Chr12:85,873,798-85,905,865) of the bipolar neuron-specific circuit super-enhancer (CRC-SE) for the mouse Vsx2 (visual system homeobox 2) gene. The enhancer is designated Rr272 (regulatory region 272). The CRC-SE is a 32 kb region, the end of which is 5 kb upstream of the Vsx2 transcriptional start site. VSX2 protein expression is significantly reduced in homozygotes because bipolar cells are absent, but it is still expressed in the M&uuml;ller glia cell type. Bipolar neurons are no longer formed in the retina of homozygotes, rendering them blind. This strain is useful in studies of development and retinal circuitry.

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