mortality/aging
• pups became cyanotic and died shortly after birth
|
cardiovascular system
• at E18.5, a single arterial trunk is frequently observed in mutant embryos which originates from the right ventricle and is continuous with the descending aorta; controls show a clearly separated pulmonary trunk and aorta at this stage
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• at E18.5, 5 of 6 embryos have a single arterial trunk with the remaining embryo displaying double outlet right ventricle
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• the ventricular septum fails to close by E13.5 and this defect can still be seen at E14.5 and E18.5
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craniofacial
• defects are seen in the pterygoid process
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• at E18.5 the maxillary bones are severely underdeveloped
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• in embryos without visible lip and jaw clefting the palatine shelves often fail to fuse with the primary palate or each other anteriorly
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• about 70% of embryos display clefting of the upper jaw and lip
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• all embryos with a cleft lip also had a cleft palate in which the palatine shelves of the maxillary bones failed to fuse along the entire midline
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digestive/alimentary system
• in embryos without visible lip and jaw clefting the palatine shelves often fail to fuse with the primary palate or each other anteriorly
|
• all embryos with a cleft lip also had a cleft palate in which the palatine shelves of the maxillary bones failed to fuse along the entire midline
|
• the pyloric constriction is malformed
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small stomach
(
J:92251
)
• at E13.5 the stomach is hypomorphic with the caudal parts including the pylorus and corpus most affected
|
endocrine/exocrine glands
• at E13.5 the pancreas is hypomorphic
|
growth/size/body
• in embryos without visible lip and jaw clefting the palatine shelves often fail to fuse with the primary palate or each other anteriorly
|
• about 70% of embryos display clefting of the upper jaw and lip
|
• all embryos with a cleft lip also had a cleft palate in which the palatine shelves of the maxillary bones failed to fuse along the entire midline
|
• at birth mutants weigh 23% less than wild-type and heterozygous littermates
|
omphalocele
(
J:92251
)
• at E18.5, 35% of mutant embryos display an omphalocele
|
barrel chest
(
J:92251
)
• abnormal curvature of the ribs results in a barrel chest
|
hematopoietic system
absent spleen
(
J:92251
)
• at E13.5 asplenia is seen in all mutant embryos
|
homeostasis/metabolism
immune system
absent spleen
(
J:92251
)
• at E13.5 asplenia is seen in all mutant embryos
|
limbs/digits/tail
• as a result of ossification defects the condensing bones of the phalanges are reduced or absent in the hindlimbs at E18.5
|
• ossification of the calcaneus is delayed
|
• ossification of the talus is delayed
|
• in 15% of embryos defects in the caudal vertebrae result in a tail curl
|
curly tail
(
J:92251
)
• a curly tail is seen in 15% of mutants
|
respiratory system
• hypoplasia is seen in all lobes of the lung
|
• the diameter of the bronchi are reduced and the number of cell layers between adjacent bronchi is increased
|
• only sporadic breathing is seen
|
skeleton
• defects are seen in the pterygoid process
|
• at E18.5 the maxillary bones are severely underdeveloped
|
• as a result of ossification defects the condensing bones of the phalanges are reduced or absent in the hindlimbs at E18.5
|
• ossification of the calcaneus is delayed
|
• ossification of the talus is delayed
|
• in 15% of embryos defects in the caudal vertebrae result in a tail curl
|
• at E18.5 ossification centers were reduced in size in the sternebrae
|
• attachment of the ribs to the sternum is irregular and follows the pattern of abnormalities in the ossification centers
|
• the 13th rib is often reduced in size and occasionally absent
• abnormal curvature of the ribs is seen resulting in a barrel chest
|
• occasionally rudiments of a 14th rib pair are seen on the lumbar vertebra regardless of the presence or absence of the 13th rib
|
• occasionally rudiments of a 14th rib pair are seen on the lumbar vertebra
|
• impaired endochondral or transmembranous ossification is seen in cranial and noncranial bones resulting in reduced bone size and density
|
• at E18.5 ossification centers were reduced in size in the sternebrae
|
vision/eye
• 97% of mutants have an eyelid closure defect of variable severity
|