mortality/aging
• about 90% of homozygotes die by P5 with none surviving beyond P9
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behavior/neurological
• homozygotes show a total loss of balance and inability to right themselves
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endocrine/exocrine glands
• the anterior lobe of the pituitary gland is severely reduced in size out of proportion to the reduction in body size
|
• most of the pituitary gland is reduced in size in proportion to the reduction in body size
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growth/size/body
• homozygotes display a severe developmental delay from P3 onward and by the time of death are less than 1/3 the weight and the length of their wild-type littermates
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hearing/vestibular/ear
• sensory hair cell numbers are decreased around 100-fold with a 2-fold increase in the density of apoptotic bodies at E15.5 and E16.5
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• loss of the semicircular canals is seen by E14.5
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• the overall structure of the membranous labyrinth is barely recognizable at E16.5
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• the utricle measures less than 1% of the expected volume at E15.5 and is lost by E18.5
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• the saccule measures less than 5% of the expected volume at E14.5 and is lost by E18.5
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• the endolymphatic duct and sac appear normal at E12.5 but fail to proliferate by E14.5
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homeostasis/metabolism
• growth hormone levels are decreased more than 40%
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muscle
muscle spasm
(
J:92940
)
• frequent muscle spasms are seen
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nervous system
• the anterior lobe of the pituitary gland is severely reduced in size out of proportion to the reduction in body size
|
• most of the pituitary gland is reduced in size in proportion to the reduction in body size
|
• sensory hair cell numbers are decreased around 100-fold with a 2-fold increase in the density of apoptotic bodies at E15.5 and E16.5
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• no growth hormone releasing hormone or galanin is detected in the arcuate nucleus
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