Abstract
Neural tube defects (NTDs) occur in approximately 1 in every 1000 births. NTDs have both an environmental and genetic basis. A hypomorphic mutation of the PCP effector protein gene Inturned (Intudtm/dtm) was studied to determine its effects on ciliogenesis, cranial neural tube patterning, and cell proliferation in a mouse model. Heterozygous mice carrying the Intudtm allele were bred and mothers were sacked and dissected for embryos. Embryos (n=6) at embryonic day 10.5 were fixed, embedded in Optimum Cutting Temperature, and cryosectioned into 10 m slices. PCR was used to distinguish between Intu+/+ and Intudtm/dtm embryos. Immunofluorescence was performed then analyzed using confocal microscopy and FIJI analysis software. Ciliogenesis, Sonic Hedgehog expression, certain patterning markers and transcription factors required for embryonic and fetal development, and cell proliferation were all decreased in Intudtm/dtm. Cell differentiation was unaffected in Intudtm/dtm compared to Intu+/+. Thus, there are biological effects of the hypomorphic mutation of Inturned. Future work is needed to increase the number of biological and technical replicates, as well as to quantitate the expression of these and other markers at varying time points in embryonic development.Grant Funding Source: Supported by the Howard Hughes Medical Institute and the LSU‐HHMI program.
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