Genetic Interaction of Thm2 and Thm1 Shapes Postnatal Craniofacial Bone.

ABSTRACT: Ciliopathies are genetic syndromes that link skeletal dysplasias to the dysfunction of primary cilia. Primary cilia are sensory organelles synthesized by intraflagellar transport (IFT)-A and B complexes, which traffic protein cargo along a microtubular core. We have reported that the deletion of the IFT-A gene, Thm2, together with a null allele of its paralog, Thm1, causes a small skeleton with a small mandible or micrognathia in juvenile mice. Using micro-computed tomography, here we quantify the craniofacial defects of Thm2^-/-; Thm1^aln/+ triple allele mutant mice. At postnatal day 14, triple allele mutant mice exhibited micrognathia, midface hypoplasia, and a decreased facial angle due to shortened upper jaw length, premaxilla, and nasal

SUBMITTER: Bumann EE 

PROVIDER: S-EPMC9149932 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature