Mutation of the Diamond-Blackfan Anemia Gene Rps7 in Mouse Results in Morphological and Neuroanatomical Phenotypes
Figure 3
Skeletal abnormalities in Rps7 mutants.
(A, B) Comparative X-rays of adult Rps7+/+ (A) and Rps7Zma/+ (B) mice show severe vertebral fusion leading to tail kinking in an Rps7Zma/+ mutant. (C–H) Alcian blue and alizarin red skeletal staining of late gestation Rps7+/+ (C, E, G) and Rps7Zma/+ (D, F, H) embryos. (C, D) Disorganization within the neural arches of Rps7Zma/+ is evident in a dorsal view of the cervical vertebrae. (E, F) Asymmetric attachment of 8 ribs to the sternum (arrow) and a shortened first sternebrae (*) are indicated in Rps7Zma/+. (G, H) Delayed development and disorganization of the ossification centers is apparent in the lumbar and sacral vertebrae. The sacral vertebrae show abnormal fusing of additional vertebrae (bracketed region). Scale bars: C,D,G,H = 2 mm; E,F = 200 µm.