Phenotype Image Detail

Image

Caption

Heparan sulfate deficiency causes Peters-like anomaly. (A and B) Thionin staining of the eyes of Ext1^tm1Yama/Ext1^tm1Yama H2az2^{Tg(Wnt1-cre)11Rth}/0 (KO) and control embryos during embryonic development. At E15.5 and E18.5, mutant embryos exhibited abnormal thinning of the central cornea (arrows) and dysgenesis of the iridocorneal angle (open arrowheads). While the control eye shows lid closure (black arrowheads in B), the mutant embryo lacked eyelids. Boxed regions in B indicate the areas shown at higher magnification in A. (C) Impaired ocular growth in mutant embryos. The central cornea thickness and the anterior chamber depth in the mutant embryos were significantly smaller, as compared with the control eyes. However, the lens thickness was not affected in the eyes of mutants. (D) Van Gieson staining revealed collagen accumulation in the control corneal stroma. In contrast, mutant embryos lacked collagen matrix. (E) Immunohistochemistry using anti-ZO-1 antibody exhibited a defect of the endothelial layer in the mutant cornea. (F) Fate mapping for neural crest cells. Cre-positive neural crest cells had already migrated to the periocular region as early as E11.5, while the neural crest cells remained distributed at E18.5. Data represent mean SEM. *P < 0.05, **P < 0.01, Student's t test (n = 6). c, cornea; ICA, iridocorneal angle. Scale bar: 50 um.

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