Universität zu Köln

Alpdogan, Serdar ORCID: 0000-0002-5188-9925, Clemens, Renate, Hescheler, Juergen, Neumaier, Felix ORCID: 0000-0002-6376-6391 and Schneider, Toni ORCID: 0000-0003-2816-2696 (2020). Non-Mendelian inheritance during inbreeding of Ca(v)3.2 and Ca(v)2.3 deficient mice. Sci Rep, 10 (1). BERLIN: NATURE RESEARCH. ISSN 2045-2322

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Abstract

The mating of 77 heterozygous pairs (Ca(v)3.2[+|-] x Ca(v)3.2[+|-]) revealed a significant deviation of genotype distribution from Mendelian inheritance in weaned pups. The mating of 14 pairs (Ca(v)3.2[-|-] female x Ca(v)3.2[+|-] male) and 8 pairs (Ca(v)3.2[+|-] female x Ca(v)3.2[-|-] male) confirmed the significant reduction of deficient homozygous Ca(v)3.2[-|-] pups, leading to the conclusion that prenatal lethality may occur, when one or both alleles, encoding the Ca(v)3.2T-type Ca2+ channel, are missing. Also, the mating of 63 heterozygous pairs (Ca(v)2.3[+|-] x Ca(v)2.3[+|-]) 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 Ca(v)2.3[-|-] male mice lacking both alleles of the R-type Ca2+ 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 Ca2+ currents are higher expressed in some tissues than postnatally. It will be discussed that the function of voltage-gated Ca2+ channels during prenatal development must be investigated in more detail, not least to understand devastative diseases like developmental epileptic encephalopathies (DEE).

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Alpdogan, Serdar UNSPECIFIED orcid.org/0000-0002-5188-9925 UNSPECIFIED Clemens, Renate UNSPECIFIED UNSPECIFIED UNSPECIFIED Hescheler, Juergen UNSPECIFIED UNSPECIFIED UNSPECIFIED Neumaier, Felix UNSPECIFIED orcid.org/0000-0002-6376-6391 UNSPECIFIED Schneider, Toni UNSPECIFIED orcid.org/0000-0003-2816-2696 UNSPECIFIED
URN:	urn:nbn:de:hbz:38-315835
DOI:	10.1038/s41598-020-72912-9
Journal or Publication Title:	Sci Rep
Volume:	10
Number:	1
Date:	2020
Publisher:	NATURE RESEARCH
Place of Publication:	BERLIN
ISSN:	2045-2322
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language GATED CALCIUM-CHANNELS; CA2+ CHANNELS; UP-REGULATION; GENE; DIFFERENTIATION; CARDIOMYOCYTES; HIPPOCAMPAL; DISRUPTION; MUTATIONS; CURRENTS Multiple languages Multidisciplinary Sciences Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/31583