| First Author | Alpdogan S | Year | 2020 |
| Journal | Sci Rep | Volume | 10 |
| Issue | 1 | Pages | 15993 |
| PubMed ID | 33009476 | Mgi Jnum | J:298283 |
| Mgi Id | MGI:6472394 | Doi | 10.1038/s41598-020-72912-9 |
| Citation | Alpdogan S, et al. (2020) Non-Mendelian inheritance during inbreeding of Cav3.2 and Cav2.3 deficient mice. Sci Rep 10(1):15993 |
| abstractText | The mating of 77 heterozygous pairs (Cav3.2[+|-] x Cav3.2[+|-]) revealed a significant deviation of genotype distribution from Mendelian inheritance in weaned pups. The mating of 14 pairs (Cav3.2[-|-] female x Cav3.2[+|-] male) and 8 pairs (Cav3.2[+|-] female x Cav3.2[-|-] male) confirmed the significant reduction of deficient homozygous Cav3.2[-|-] pups, leading to the conclusion that prenatal lethality may occur, when one or both alleles, encoding the Cav3.2T-type Ca(2+) channel, are missing. Also, the mating of 63 heterozygous pairs (Cav2.3[+|-] x Cav2.3[+|-]) revealed a significant deviation of genotype distribution from Mendelian inheritance in weaned pups, but only for heterozygous male mice, leading to the conclusion that compensation may only occur for Cav2.3[-|-] male mice lacking both alleles of the R-type Ca(2+) channel. During the mating of heterozygous parents, the number of female mice within the weaned population does not deviate from the expected Mendelian inheritance. During prenatal development, both, T- and R-type Ca(2+) currents are higher expressed in some tissues than postnatally. It will be discussed that the function of voltage-gated Ca(2+) channels during prenatal development must be investigated in more detail, not least to understand devastative diseases like developmental epileptic encephalopathies (DEE). |
