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Distinct Morphological and Behavioural Alterations in ENU-Induced Heterozygous Trpc7K810Stop Mutant Mice
- Source :
- Genes, Vol 12, Iss 1732, p 1732 (2021), Genes, Genes 12:1732 (2021)
- Publication Year :
- 2021
- Publisher :
- MDPI AG, 2021.
-
Abstract
- 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 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 Trpc7 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. Trpc7 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 Trpc7 knockout mice. Thus, the Trpc7K810Stop mutation leads to a dominant negative effect of the mutant protein.
- Subjects :
- Heterozygote
growth
seizure
Mutant
Mutagenesis (molecular biology technique)
TRPC7
Biology
QH426-470
medicine.disease_cause
Mice
Mutant protein
Seizures
Exome Sequencing
medicine
Genetics
Animals
ddc:610
Amino Acid Sequence
tissue irritation
Gene
Genetics (clinical)
Alleles
Genetic Association Studies
TRPC Cation Channels
Mice, Knockout
Mutation
Mice, Inbred C3H
Genome
Behavior, Animal
Communication
animal model
Phenotype
Stop codon
Mutagenesis
Animal Model
Growth
Seizure
Tissue Irritation
Trpc7
Knockout mouse
Models, Animal
Subjects
Details
- Language :
- English
- ISSN :
- 20734425
- Volume :
- 12
- Issue :
- 1732
- Database :
- OpenAIRE
- Journal :
- Genes
- Accession number :
- edsair.doi.dedup.....cd60ad00b94cb00d2f881c3af23314e6