mortality/aging
|
• the expected number of males are present at E11.5 but the frequency decreases to only 4% by E12.5
|
embryo
|
• embryos do not turn
|
|
• bilateral expression of normally asymmetric genes (Nodal, Pitx2) is seen
|
cardiovascular system
|
• in about 50% the heart tube remains at the midline, in the rest either normal or reversed heart looping is seen
|
|
• about 50% have a thin, abnormal cardiac tube that remains at the midline
|
nervous system
|
• at E10.5 no prospective V3 interneurons or motorneurons are detected
|
growth/size/body
cellular
|
• at E10.5 no prospective V3 interneurons or motorneurons are detected
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
orofaciodigital syndrome I | DOID:0060316 |
OMIM:311200 |
J:106035 |