Identification of Novel Mutations Controlling Cerebral Cortex Malformations Caused by ENU-Induced Mutagenesis in the Mouse

Borisova Е.V., Epifanova E.A., Tutukova S.A., Belousova I.I., Zhidkova N.M., Rusanova A.M., Salina V.A., Turovsky E.A., Turovskaya M.V., Tarabykin V.S., Babaev A.A.

Key words: mouse mutagenesis; brain development genetics; phenotype screening; microcephaly; audiogenic epilepsy.

2018, volume 10, issue 3, page 70.

DOI: https://doi.org/10.17691/stm2018.10.3.8

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The aim of the study is to identify new gene mutations causing cerebral cortex malformations in mice.

Materials and Methods. To identify genes causing cerebral cortex malformations, chemical mutagenesis was carried out using N-ethyl-N-nitrosourea as a mutagen. A total of 141 male C3H mice aged 8 weeks were injected with the mutagen in order to induce mutations in spermatogonial stem cells. After a period of sterility, the animals were used in three-generation backcross scheme. Satb2-LacZ reporter mice were involved in this strategy to label the neurons forming the corpus callosum.

Results. The animal phenotype displaying primary microcephaly and 6 mutant lines demonstrating audiogenic epilepsy have been described. The phenotypes of these mutants will be further presented and discussed.

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Borisova Е.V., Epifanova E.A., Tutukova S.A., Belousova I.I., Zhidkova N.M., Rusanova A.M., Salina V.A., Turovsky E.A., Turovskaya M.V., Tarabykin V.S., Babaev A.A. Identification of Novel Mutations Controlling Cerebral Cortex Malformations Caused by ENU-Induced Mutagenesis in the Mouse. Sovremennye tehnologii v medicine 2018; 10(3): 70, https://doi.org/10.17691/stm2018.10.3.8