Analysis Tools
mortality/aging
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• pups became cyanotic and died shortly after birth
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cardiovascular system
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• 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
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• 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
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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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• 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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• the pyloric constriction is malformed
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small stomach
(
J:92251
)
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• at E13.5 the stomach is hypomorphic with the caudal parts including the pylorus and corpus most affected
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endocrine/exocrine glands
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• at E13.5 the pancreas is hypomorphic
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growth/size/body
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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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• at birth mutants weigh 23% less than wild-type and heterozygous littermates
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omphalocele
(
J:92251
)
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• at E18.5, 35% of mutant embryos display an omphalocele
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barrel chest
(
J:92251
)
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• abnormal curvature of the ribs results in a barrel chest
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hematopoietic system
absent spleen
(
J:92251
)
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• at E13.5 asplenia is seen in all mutant embryos
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homeostasis/metabolism
immune system
absent spleen
(
J:92251
)
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• at E13.5 asplenia is seen in all mutant embryos
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limbs/digits/tail
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• as a result of ossification defects the condensing bones of the phalanges are reduced or absent in the hindlimbs at E18.5
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• ossification of the calcaneus is delayed
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• ossification of the talus is delayed
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• in 15% of embryos defects in the caudal vertebrae result in a tail curl
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curly tail
(
J:92251
)
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• a curly tail is seen in 15% of mutants
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respiratory system
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• hypoplasia is seen in all lobes of the lung
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• the diameter of the bronchi are reduced and the number of cell layers between adjacent bronchi is increased
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• only sporadic breathing is seen
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skeleton
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• defects are seen in the pterygoid process
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• at E18.5 the maxillary bones are severely underdeveloped
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• as a result of ossification defects the condensing bones of the phalanges are reduced or absent in the hindlimbs at E18.5
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• ossification of the calcaneus is delayed
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• ossification of the talus is delayed
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• in 15% of embryos defects in the caudal vertebrae result in a tail curl
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• at E18.5 ossification centers were reduced in size in the sternebrae
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• attachment of the ribs to the sternum is irregular and follows the pattern of abnormalities in the ossification centers
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• the 13th rib is often reduced in size and occasionally absent
• abnormal curvature of the ribs is seen resulting in a barrel chest
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• occasionally rudiments of a 14th rib pair are seen on the lumbar vertebra regardless of the presence or absence of the 13th rib
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• occasionally rudiments of a 14th rib pair are seen on the lumbar vertebra
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• impaired endochondral or transmembranous ossification is seen in cranial and noncranial bones resulting in reduced bone size and density
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• at E18.5 ossification centers were reduced in size in the sternebrae
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vision/eye
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• 97% of mutants have an eyelid closure defect of variable severity
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