May 2011

Document Type


Degree Name



Dept. of Molecular and Medical Genetics


Oregon Health & Science University


Atrioventricular septal defects (AVSD) are highly heritable congenital heart malformations, yet little is known about their genetic etiology. The first single AVSD genetic risk factor to be discovered is a unique gene called CRELD1, which was identified by the Maslen laboratory in 2003. It is now well established that missense mutations in CRELD1 are associated with AVSD; however, how CRELD1 contributes to disease is not known. To establish the extent to which CRELD1 influences cardiovascular development, we created and I characterized a constitutive Creld1-knockout mouse (Creld1[superscript (-/-)]). During this first characterization of CRELD1 function in vivo, I found that elimination of CRELD1 expression resulted in death by embryonic day 12.5 and that before death there were numerous abnormalities, including cardiovascular and endocardial cushion defects. This is significant because defects in atrioventricular endocardial cushions are a potential cause of AVSD. Furthermore, I found




School of Medicine



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