mortality/aging
• surprisingly, the remaning 50% of homozygotes survive embryonic development and are live born, but die within 24 hrs after birth from cardiac abnormalities
(J:91492)
|
• ~50% of homozygotes exhibit peri-implantation lethality, possibly due to placentation defects
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digestive/alimentary system
anal atresia
(
J:91491
)
• the anal pit does not form a connection with the rectum
|
• the rectum is connected to the neck of the bladder in males or the vagina and neck of the bladder in females forming a single tube
|
renal/urinary system
• the rectum is connected to the neck of the bladder in males or the vagina and neck of the bladder in females forming a single tube
|
• the external urethra is untubularized
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hypospadia
(
J:91491
)
• males have severe hypospadia
|
reproductive system
• the rectum is connected to the neck of the bladder in males or the vagina and neck of the bladder in females forming a single tube
|
• females display a splayed clitoris
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cardiovascular system
N |
• at E9 until birth, homozygotes are grossly normal and exhibit none of the early vascular defects observed in Efnb2tm1.1Henk homozygotes
|
• homozygotes exhibit an overall normal chamber formation and vascular connections but show thickened cardiac valves
|
• at E18 and P0, homozygotes exhibit slightly hyperplastic mitral valve leaflets with ~30% more mesenchymal cells relative to wild-type mice
• in contrast, tricuspid valves show no significant changes in leaflet size
|
• at E18 and P0, all homozygotes display significantly enlarged aortic valves
|
• at E18 and P0, all homozygotes display hyperplastic (thickened) aortic valves, with nearly twice as many mesenchymal cells relative to wild-type mice
|
• at E18 and P0
|
• at E18 and P0, all homozygotes display significantly enlarged pulmonary valves
|
• at E18 and P0, all homozygotes display hyperplastic (thickened) pulmonary valves, with nearly twice as many mesenchymal cells relative to wild-type mice
|
• at E18 and P0
|
nervous system
• at E16, all homozygotes display defective pathfinding of axons that form a major forebrain commissure, the posterior tract of the anterior commissure
|
• at E16, formation of the posterior tract of the anterior commissure, a major forebrain commissure that connects the two temporal lobes of the cortex, is severely impaired
|
embryo
• at E11 a complete lack of septation of the cloaca is seen
• at E13 endoderm is not partitioned into the hindgut by epithelial cells
|
cellular
• at E16, all homozygotes display defective pathfinding of axons that form a major forebrain commissure, the posterior tract of the anterior commissure
|