About   Help   FAQ
Phenotype Image Detail
Image
Caption Heparan sulfate deficiency causes craniofacial malformation. Stereomicroscopy for control embryos (A, C, E, and G) and Ext1tm1Yama/Ext1tm1Yama H2az2Tg(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
Ext1tm1Yama exostosin glycosyltransferase 1; targeted mutation 1, Yu Yamaguchi
H2az2Tg(Wnt1-cre)11Rth H2A.Z histone variant 2; transgene insertion 11, David H Rowitch
Associated
Genotypes
Allelic Composition Genetic Background
Ext1tm1Yama/Ext1tm1Yama
H2az2Tg(Wnt1-cre)11Rth/H2az2+
B6.Cg-H2az2Tg(Wnt1-cre)11Rth Ext1tm1Yama

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
04/23/2024
MGI 6.23
The Jackson Laboratory