Distinct Morphological and Behavioural Alterations in ENU-Induced Heterozygous Trpc7K810Stop Mutant Mice

Trpc7 (transient receptor potential cation channel, subfamily C, member 7; 862 amino acids) knockout mice are described showing no clear phenotypic alterations, therefore, the functional relevance of the gene remains unclear. A complementary approach for the functional analysis of...

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Autores principales:	Birgit Rathkolb, Maike Howaldt, Stefan Krebs, Petra Prückl, Susanne Sauer, Martin Hrabě de Angelis, Bernhard Aigner
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	animal model growth seizure tissue irritation TRPC7 Genetics QH426-470
Acceso en línea:	https://doaj.org/article/44e809c6ccc641b49547e484790a28b2
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spelling	oai:doaj.org-article:44e809c6ccc641b49547e484790a28b22021-11-25T17:41:21ZDistinct Morphological and Behavioural Alterations in ENU-Induced Heterozygous <i>Trpc7<sup>K810Stop</sup></i> Mutant Mice10.3390/genes121117322073-4425https://doaj.org/article/44e809c6ccc641b49547e484790a28b22021-10-01T00:00:00Zhttps://www.mdpi.com/2073-4425/12/11/1732https://doaj.org/toc/2073-4425<i>Trpc7</i> (transient receptor potential cation channel, subfamily C, member 7; 862 amino acids) knockout mice are described showing no clear phenotypic alterations, therefore, the functional relevance of the gene remains unclear. A complementary approach for the functional analysis of a given gene is the examination of individuals harbouring a mutant allele of the gene. In the phenotype-driven Munich ENU mouse mutagenesis project, a high number of phenotypic parameters was used for establishing novel mouse models on the genetic background of C3H inbred mice. The phenotypically dominant mutant line SMA002 was established and further examined. Analysis of the causative mutation as well as the phenotypic characterization of the mutant line were carried out. The causative mutation was detected in the gene <i>Trpc7</i> which leads to the production of a truncated protein due to the novel stop codon at amino acid position 810 thereby affecting the highly conserved cytoplasmic C terminus of the protein. <i>Trpc7</i> heterozygous mutant mice of both sexes were viable and fertile, but showed distinct morphological and behavioural alterations which is in contrast to the published phenotype of <i>Trpc7</i> knockout mice. Thus, the <i>Trpc7<sup>K810Stop</sup></i> mutation leads to a dominant negative effect of the mutant protein.Birgit RathkolbMaike HowaldtStefan KrebsPetra PrücklSusanne SauerMartin Hrabě de AngelisBernhard AignerMDPI AGarticleanimal modelgrowthseizuretissue irritationTRPC7GeneticsQH426-470ENGenes, Vol 12, Iss 1732, p 1732 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	animal model growth seizure tissue irritation TRPC7 Genetics QH426-470
spellingShingle	animal model growth seizure tissue irritation TRPC7 Genetics QH426-470 Birgit Rathkolb Maike Howaldt Stefan Krebs Petra Prückl Susanne Sauer Martin Hrabě de Angelis Bernhard Aigner Distinct Morphological and Behavioural Alterations in ENU-Induced Heterozygous <i>Trpc7<sup>K810Stop</sup></i> Mutant Mice
description	<i>Trpc7</i> (transient receptor potential cation channel, subfamily C, member 7; 862 amino acids) knockout mice are described showing no clear phenotypic alterations, therefore, the functional relevance of the gene remains unclear. A complementary approach for the functional analysis of a given gene is the examination of individuals harbouring a mutant allele of the gene. In the phenotype-driven Munich ENU mouse mutagenesis project, a high number of phenotypic parameters was used for establishing novel mouse models on the genetic background of C3H inbred mice. The phenotypically dominant mutant line SMA002 was established and further examined. Analysis of the causative mutation as well as the phenotypic characterization of the mutant line were carried out. The causative mutation was detected in the gene <i>Trpc7</i> which leads to the production of a truncated protein due to the novel stop codon at amino acid position 810 thereby affecting the highly conserved cytoplasmic C terminus of the protein. <i>Trpc7</i> heterozygous mutant mice of both sexes were viable and fertile, but showed distinct morphological and behavioural alterations which is in contrast to the published phenotype of <i>Trpc7</i> knockout mice. Thus, the <i>Trpc7<sup>K810Stop</sup></i> mutation leads to a dominant negative effect of the mutant protein.
format	article
author	Birgit Rathkolb Maike Howaldt Stefan Krebs Petra Prückl Susanne Sauer Martin Hrabě de Angelis Bernhard Aigner
author_facet	Birgit Rathkolb Maike Howaldt Stefan Krebs Petra Prückl Susanne Sauer Martin Hrabě de Angelis Bernhard Aigner
author_sort	Birgit Rathkolb
title	Distinct Morphological and Behavioural Alterations in ENU-Induced Heterozygous <i>Trpc7<sup>K810Stop</sup></i> Mutant Mice
title_short	Distinct Morphological and Behavioural Alterations in ENU-Induced Heterozygous <i>Trpc7<sup>K810Stop</sup></i> Mutant Mice
title_full	Distinct Morphological and Behavioural Alterations in ENU-Induced Heterozygous <i>Trpc7<sup>K810Stop</sup></i> Mutant Mice
title_fullStr	Distinct Morphological and Behavioural Alterations in ENU-Induced Heterozygous <i>Trpc7<sup>K810Stop</sup></i> Mutant Mice
title_full_unstemmed	Distinct Morphological and Behavioural Alterations in ENU-Induced Heterozygous <i>Trpc7<sup>K810Stop</sup></i> Mutant Mice
title_sort	distinct morphological and behavioural alterations in enu-induced heterozygous <i>trpc7<sup>k810stop</sup></i> mutant mice
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/44e809c6ccc641b49547e484790a28b2
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Distinct Morphological and Behavioural Alterations in ENU-Induced Heterozygous <i>Trpc7<sup>K810Stop</sup></i> Mutant Mice

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