behavior/neurological
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• mice exhibit hindlimb clasping when suspended by the tail
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• mice exhibit loss of grip endurance on an inverted wire cage and release their grip within 10-20 sec, whereas wild-type and heterozygous controls remain suspended for ~60 sec
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muscle
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• mice show a 40% reduction in the number of muscle fibers in the gastrocnemius relative to wild-type or heterozygous controls
• however, average fiber size in the gastrocnemius is normal
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• both male and females exhibit a significant decrease in gastrocnemius muscle weight normalized to body weight relative to wild-type or heterozygous controls
• however, tibialis anterior and quadriceps muscle weights are normal
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• mice show a 40% reduction in the number of muscle fibers in the gastrocnemius relative to wild-type or heterozygous controls
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• mice exhibit muscle weakness (wasting) in the hindlimbs
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limbs/digits/tail
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• both males and females exhibit shortened calcanea relative to wild-type or heterozygous controls
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• mice show a 40% reduction in the number of muscle fibers in the gastrocnemius relative to wild-type or heterozygous controls
• however, average fiber size in the gastrocnemius is normal
|
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• both male and females exhibit a significant decrease in gastrocnemius muscle weight normalized to body weight relative to wild-type or heterozygous controls
• however, tibialis anterior and quadriceps muscle weights are normal
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skeleton
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• both males and females exhibit shortened calcanea relative to wild-type or heterozygous controls
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