Nonequivalence of Zfp423 premature termination codons in mice.

ABSTRACT: Genetic variants that introduce a premature termination codon (PTC) are often assumed equivalent and functionally null. Exceptions depend on the specific architectures of the affected mRNA and protein. Here we address phenotypic differences among early truncating variants of mouse Zfp423, whose phenotypes resemble Joubert Syndrome and Related Disorders. We replicate quantitative differences previously seen between presumptive null PTC variants based on their position in the coding sequence. We show with reciprocal congenic strains that large phenotype differences between two PTC variants with the same predicted stop and reinitiation codons are due to the specific allele rather than different strain backgrounds, with no evidence for induced exon skipping. Differences in RNA structure, howev

SUBMITTER: Concepcion D 

PROVIDER: S-EPMC12505304 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature