Analysis Tools
mortality/aging
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• die immediately after birth
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cardiovascular system
hearing/vestibular/ear
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• the extension of the saccular region to the ventral side does not occur in the E10.5-E11.5 otic vesicle
• altered dorsoventral axis patterning of the otic vesicle as indicated by changes in expression of many genes
• enhanced apoptosis at E10.5-11.5 and reduced cell proliferation at E11.5, but not E10.5, in the ventral otic vesicle
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• defective inner ear development at around E10.5-12.5
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• at E12.5, the dorsal most parts of semicircular canals and common crus are seen as a fused cavity and remain as a common fused space in neonates
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• endolymphatic sac is irregularly larger in size
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• dilation seen at E10.5 and is abnormally large at E12.5
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• malformation of the incus
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• malformation of the malleus
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behavior/neurological
bradykinesia
(
J:104488
)
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• show few body movements at birth
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craniofacial
micrognathia
(
J:104488
)
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• malformation of the incus
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• malformation of the malleus
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• exhibit a hollowed nasal region with traces of nasal bleeding
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• exhibit a pair of mere simple, rounded nostrils
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• nasal cavities do not connect with the oral cavity or the nasopharynx
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• absent vomeronasal organs
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• absent nasal epithelium
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immune system
muscle
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• reduction in skeletal muscle mass of the trunk, limbs, diaphragm, and tongue
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nervous system
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• absent vomeronasal organs
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• vestibulo-acoustic ganglia is absent at E9.5
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renal/urinary system
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• variable kidney defects
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small kidney
(
J:104488
)
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• in mild cases, kidneys are small with normal structure
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• in extreme cases, both kidneys are absent, although ureters are always formed
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short ureter
(
J:104488
)
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• in extreme cases in which the kidneys are absent, ureters are occasionally shorter
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respiratory system
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• exhibit a hollowed nasal region with traces of nasal bleeding
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• exhibit a pair of mere simple, rounded nostrils
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• nasal cavities do not connect with the oral cavity or the nasopharynx
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• absent vomeronasal organs
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• absent nasal epithelium
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skeleton
micrognathia
(
J:104488
)
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• malformation of the incus
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• malformation of the malleus
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vision/eye
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• eyelids are sometimes open at birth
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hematopoietic system
taste/olfaction
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• absent nasal epithelium
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endocrine/exocrine glands
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• at E18.5, mutant submandibular glands exhibit a significant reduction in size due to decreased epithelial cell proliferation during development/maturation
• however, mutant submandibular ducts and acini appear histologically normal
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• at E18.5, mutant submandibular glands are significantly smaller than wild-type
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• at E18.5, mutant submandibular glands show a marked decrease in the number of proliferating epithelial cells, as determined by BrdU-staining
• this proliferation defect is accompanied by downregulation of cyclin A1 expression (a transcriptional target of Six1) whereas cyclin A2 levels remain unchanged
• no significant difference is noted in the number of TUNEL-positive cells relative to wild-type controls, indicating normal apoptosis at E18.5
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growth/size/body
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• exhibit a hollowed nasal region with traces of nasal bleeding
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• exhibit a pair of mere simple, rounded nostrils
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• nasal cavities do not connect with the oral cavity or the nasopharynx
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• absent vomeronasal organs
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• absent nasal epithelium
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digestive/alimentary system
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• at E18.5, mutant submandibular glands exhibit a significant reduction in size due to decreased epithelial cell proliferation during development/maturation
• however, mutant submandibular ducts and acini appear histologically normal
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• at E18.5, mutant submandibular glands are significantly smaller than wild-type
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• at E18.5, mutant submandibular glands show a marked decrease in the number of proliferating epithelial cells, as determined by BrdU-staining
• this proliferation defect is accompanied by downregulation of cyclin A1 expression (a transcriptional target of Six1) whereas cyclin A2 levels remain unchanged
• no significant difference is noted in the number of TUNEL-positive cells relative to wild-type controls, indicating normal apoptosis at E18.5
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