mortality/aging
• all homozygotes die perinatally
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nervous system
• arborized branches of the brachial nerves that target the latissimus dorsi and cutaneous maximus muscles are lost in embryos
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• reduced fusimotor innervation of muscle spindles
• however, muscle spindle innervation is normal in Rectus femoris
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• loss of enteric neurons is seen as early as E10.5
• loss of esophageal enteric neurons in newborns
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• majority of PEA3+ motor neurons (detected as Islet1+HB9+ cells) in the spinal cord are shifted dorsally in mutant embryos
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• motor innervation to superior gluteus maximus and tensor facia latae is disrupted
• lack innervation to posterior Psoas major
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• loss of more than 20% of motor neurons at the lumbar level
• elevated apoptosis of motor neurons between 13.5 and E15.5
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renal/urinary system
• loss of kidneys is seen as early as E11.5
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• ureteric bud in embryos fails to grow out from the Wolffian duct or to branch properly
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muscle
• reduced fusimotor innervation of muscle spindles
• however, muscle spindle innervation is normal in Rectus femoris
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