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Maisa Seppala, Michael J. Depew, David C. Martinelli, Chen-Ming Fan, Paul T. Sharpe, Martyn T. Cobourne
Published in Volume 117, Issue 6
J Clin Invest. 2007; 117(6):1575–1584 doi:10.1172/JCI32032
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Figure 1
Craniofacial defects associated with the perinatal Gas1–/– skull.

(A) Comparison of WT and Gas1–/– skulls differentially stained for bone (red) and cartilage (blue) demonstrated the reduced size of the Gas1–/– skull. (B) Norma basalis of WT and Gas1–/– skulls. Blue arrows indicate the absence of optic pillars in the Gas1–/– mouse; yellow arrows highlight the Gas1–/– cleft palate; black arrow indicates fenestration of the Gas1–/– neurocranial base; green arrows indicate dysmorphic ectotympanic rings; and white arrows denote absence of the hypoglossal foramen. (C and D) Magnified norma basalis views of the maxillary and premaxillary palate of WT (C) and 2 Gas1–/– (D) neonates without fully cleft palates. Red arrows highlight the morphologic range of fused incisors in Gas1–/– mice; green arrows indicate the range of midline hypoplasia in premaxillary palatal shelves and paraseptal cartilages; and yellow arrows show the developing maxillary palatal shelves. (EL) Comparison of WT (E) and Gas1–/– (FL) middle ear skeletal elements demonstrating the range of dysmorphology evident in Gas1–/– mice. Outlined are the styloid process (green), stapes (orange), incus (yellow), and malleus (purple) in WT mice. Green arrows indicate tympanohyal segments; pink arrows indicate stylohyal segments; purple arrows indicate the mallei; yellow arrows indicate the incuses; blue arrows highlight the gonials; orange arrows highlight the stapes; red arrows indicate the ectotympanics; black arrows indicates ectopic cartilage between the stapes, styloid process, and ectotympanic; and white arrows indicate hypoglossal foreman. Exemplified in K is the fusion of the stapes to the otic capsule. Original magnification, ×1.8 (C and D); ×2.3 (E and F); ×1.3 (GL).