17q12 deletion syndrome is a chromosomal abnormality in which a portion of the long arm (q) of human chromosome 17 is deleted in each cell. The syndrome is a copy number variant (CNV) deletion characterized neurodevelopmental disorders and renal cysts and diabetes syndrome (RCAD). The deletion is syntenic to the mouse 11qC region. The CRISPR/cas9 generated deletion in 17q12Del mice removed all genes downstream of Gm11434 and upstream of Gm33028 including Aatf, Acaca, Gm11437, Ddx52, Dhrs11, Dusp14, Ggnbp2, Lhx1, Hnf1b, Mrm1, Myo19, Pigw, Synrg and Znhit3. On the CD1 outbred background (this strain), heterozygous mice are viable and fertile. Homozygote viable/fertility has not been assessed. Heterozygous 17q12 mice develop mild craniofacial (nasal abnormalities) and brain abnormalities (lateral ventricular dilatation, thinning of the corpus callosum and posterior cortex) as well as decreased growth, body weight and body length, renal abnormalities (reduced numbers of glomeruli, immature and/or dysplastic glomeruli) and blood glucose abnormalities. Of note, 17q12Del males exhibit a higher penetrance and more severe phenotypes than females.On the C57BL/6N background, the mutation is perinatal lethal. Mice develop more severe head and brain malformations directly proportional to the number of C57BL/6N alleles in the genetic background.

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17q12Del mice have a 1.2 Mb deletion on syntenic mouse chromosome 11qC. 17q12 deletion syndrome is associated with neurodevelopmental disorders and renal cysts and diabetes syndrome (RCAD). The 17q12Del mouse phenocopies several features of the human disorder including, craniofacial and brain malformations in deletion mice, along with renal and diabetes phenotypes.

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