limbs/digits/tail
• increase in cell proliferation and decrease in apoptosis within the tail
• dorsal flexure of the tail
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• caudal tail vertebrae are longer, thicker, and barrel shaped instead of bow tie shaped
• foramena of vertebrae are larger and bifid spinous processes are set farther apart due to the larger ectopic neural tube
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thick tail
(
J:82849
)
skeleton
• greater distance between the bifid spinous processes of caudal vertebra 1-6
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• caudal tail vertebrae are longer, thicker, and barrel shaped instead of bow tie shaped
• foramena of vertebrae are larger and bifid spinous processes are set farther apart due to the larger ectopic neural tube
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nervous system
• axons are defective in defasciculating from the segmental nerves
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• overgrowth of the secondary neural tube
• reduced cell death and increased proliferation througout the secondary neural tube at E13.5 relative to heterozygotes
• mutants have 6-8 Tuj1+ cell layers in the neural tube compared to one inner undifferentiated ventricular layer and one outer, postmitotic Tuj1+ layer in controls
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• peripheral nerve innervation is reduced in mutants
• segmental nerves that run the length of the tail appear thicker and do not extend as far caudally as controls; more processes enter the segmental nerves from ectopic dorsal root ganglia, but fewer ventral and lateral processes defasciculate to innervate the peripheral tissues of the tail
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• ventral ramii, the nerve tracts within the ventral foramen, are larger than in heterozygous controls
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• ectopic and supernumery dorsal root ganglion are seen at E13.5
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• overgrowth of spinal cord; caudally expanded spinal cord persists from birth to adulthood
• the caudal extremity of the spinal cord, the conus medullaris, is located more posteriorly in mutants
• a mass of aberrant neural cells is seen in the caudal extremity of the cord
• newborn mutants contain a spinal cord with an intact central canal while no spinal cord, only the filum terminale, is seen in controls at this time
• 16 week old mutants contain an abnormal spinal cord complete with rudimentary dorsal root ganglia
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embryo
• overgrowth of the secondary neural tube
• reduced cell death and increased proliferation througout the secondary neural tube at E13.5 relative to heterozygotes
• mutants have 6-8 Tuj1+ cell layers in the neural tube compared to one inner undifferentiated ventricular layer and one outer, postmitotic Tuj1+ layer in controls
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behavior/neurological
• mutants exhibit a less pronounced tail-flicker response, however when tested for hot, cold, pressure, touch, or pain sensitivity, they are capable of sensing these stimuli
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endocrine/exocrine glands
• ducts from ventral prostates are frequently swollen in older mutants (>1 year), however no reduction in duct tip numbers
• ventral prostate epithelial cells are simple cuboidal instead of the tall columnar epithelia seen in controls
• markers for prostate luminal epithelium are expressed but mislocalized, indicating that epithelial cells may lack polarity
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• prostate ducts show reduced protein content indicating a reduction in secretory function of the ventral prostate
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reproductive system
• ducts from ventral prostates are frequently swollen in older mutants (>1 year), however no reduction in duct tip numbers
• ventral prostate epithelial cells are simple cuboidal instead of the tall columnar epithelia seen in controls
• markers for prostate luminal epithelium are expressed but mislocalized, indicating that epithelial cells may lack polarity
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• prostate ducts show reduced protein content indicating a reduction in secretory function of the ventral prostate
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cellular
• axons are defective in defasciculating from the segmental nerves
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