Comprehensive phenotypic analysis of the Dp1Tyb mouse strain reveals a broad range of Down Syndrome-related phenotypes

Lana-Elola, E.; Cater, H.; Watson-Scales, S.; Greenaway, S.; Mueller-Winkler, J.; Gibbins, D.; Nemes, M.; Slender, A.; Hough, T.; Keskivali-Bond, P.; Scudamore, C. L.; Herbert, E.; Banks, G. T.; Mobbs, H.; Canonica, T.; Tosh, J.; Noy, S.; Llorian, M.; Nolan, P. M.; Griffin, J. L.; Good, M.; Simon, M.; Mallon, A.-M.; Wells, S.; Fisher, E. M.; Tybulewicz, V. L.

doi:10.1101/2021.02.11.430828

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bioRxiv · 10.1101/2021.02.11.430828

Comprehensive phenotypic analysis of the Dp1Tyb mouse strain reveals a broad range of Down Syndrome-related phenotypes

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Abstract

Down syndrome (DS), trisomy 21, results in many complex phenotypes including cognitive deficits, heart defects and craniofacial alterations. Phenotypes arise from an extra copy of human chromosome 21 (Hsa21) genes. However, causative genes remain mostly unknown. Animal models enable identification of these genes and pathological mechanisms. The Dp1Tyb mouse model of DS has an extra copy of 63% of Hsa21-orthologous mouse genes. Here, we comprehensively phenotype Dp1Tyb mice and find wide-ranging DS-like phenotypes including aberrant megakaryopoiesis, reduced bone density, and deficits in memory, locomotion, hearing and sleep. Thus, Dp1Tyb mice are an excellent model for studies of many complex DS phenotypes.

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Lana-Elola, E., Cater, H., Watson-Scales, S., Greenaway, S., Mueller-Winkler, J., Gibbins, D., Nemes, M., Slender, A., Hough, T., Keskivali-Bond, P., Scudamore, C. L., Herbert, E., Banks, G. T., Mobbs, H., Canonica, T., Tosh, J., Noy, S., Llorian, M., Nolan, P. M., Griffin, J. L., Good, M., Simon, M., Mallon, A.-M., Wells, S., Fisher, E. M., Tybulewicz, V. L.. 2021-02-11. Comprehensive phenotypic analysis of the Dp1Tyb mouse strain reveals a broad range of Down Syndrome-related phenotypes. https://doi.org/10.1101/2021.02.11.430828

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