Generation and characterization of Six2 conditional mice.

ABSTRACT: Heterozygous deletion of Six2, which encodes a member of sine oculis homeobox family transcription factors, has recently been associated with the frontonasal dysplasia syndrome FND4. Previous studies showed that Six2 is expressed in multiple tissues during craniofacial development in mice, including embryonic head mesoderm, postmigratory frontonasal neural crest cells, and epithelial and mesenchymal cells of the developing palate and nasal structures. Whereas Six2 ^-/- mice exhibited cranial base defects but did not recapitulate frontonasal phenotypes of FND4 patients, Six1 ^-/- Six2 ^-/- double mutant mice showed severe craniofacial defects including midline facial clefting. The complex phenotypes of FND4 patients and of Six1 ^-/- Six2 ^-/-

SUBMITTER: Li C 

PROVIDER: S-EPMC7363584 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature