Phenotype Image Detail

Image

Caption

Heparan sulfate deficiency causes craniofacial malformation. Stereomicroscopy for control embryos (A, C, E, and G) and Ext1^tm1Yama/Ext1^tm1Yama H2az2^{Tg(Wnt1-cre)11Rth}/0 embryos (B, D, F, H, and I) at E18.5. The mutant embryos showed ear deformity (black arrow in B), severe cleft palate (white arrows in B and D), and the lack of a hard palate (open arrow in F). The eyes of mutants also displayed eyelid defects (black arrowheads) and iris coloboma (white arrowhead in H). Some colobomas affected both the iris and ciliary body (white arrowhead in I). Original magnification, 3.2 (G-I).

Copyright

This image is from Iwao K, J Clin Invest 2009 Jul;119(7):1997-2008 and is displayed with the permission of the American Society for Clinical Investigation who owns the Copyright. J:152572

Associated Alleles

Symbol	Name
Ext1^tm1Yama	exostosin glycosyltransferase 1; targeted mutation 1, Yu Yamaguchi
H2az2^Tg(Wnt1-cre)11Rth	H2A.Z histone variant 2; transgene insertion 11, David H Rowitch

Associated Genotypes

Allelic Composition	Genetic Background
Ext1^tm1Yama/Ext1^tm1Yama H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	B6.Cg-H2az2^Tg(Wnt1-cre)11Rth Ext1^tm1Yama