The figure shows staining of mouse embryos with X-gal to highlight Ttc21b in whole-mount embryos (panels A-D,H) or after sectioning (panels E-G,I-N). Boxed areas in panel E are shown magnified in panels F and G, boxed areas in panels I and L are shown magnified in panels J and M. Arrows indicate specific areas of lacZ expression.
Rebekah Niewoehner, Rolf Stottmann & co found that pathogenic Ttc21b variants, the primary #cilia gene, contribute to primary #microcephaly, with homozygous #mouse mutants showing severe #microcephaly due to impaired neural progenitor proliferation and differentiation.
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