mortality/aging
• although homozygotes are born in the expected Mendelian ratio, all died within the first day
|
craniofacial
• in about 50% of homozygotes
• trabecula basal plate largely missing
• inferior half of optic canal poorly formed
|
• presphenoid absent or lacking lateral processes
|
skeleton
• in about 50% of homozygotes
• trabecula basal plate largely missing
• inferior half of optic canal poorly formed
|
• presphenoid absent or lacking lateral processes
|
• occasional failure of the first rib to attach to sternum
• 8th rib frequently attaches to sternum
|
• abnormalities seen in cervical vertebrae including fusion of C2 and C3
|
nervous system
• failed to close in the mid and hindbrain regions
|
exencephaly
(
J:88168
)
• in about 50% of homozygotes on a CD1 background
• less than 10% of homozygotes on a C567BL/6 background
|
• occurs in about 50% of homozygotes
|
• branch to 2nd branchial arch is missing
|
embryo
• failed to close in the mid and hindbrain regions
|