behavior/neurological
• time spent in an accelerated rotarod is reduced and the latency to reach the goal platform in the beam walking test is increased in mice with a paternally inherited allele
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• mice with a paternally inherited allele show reduced withdrawal latency on a hot plate test compared to wild-type, indicating reduced pain threshold
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nervous system
• cutaneous innervation in the hindpad is reduced in mice with a paternally inherited allele, as indicated by reduced number of CGRP-immunoreactive fibers
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• neurite outgrowth from DRG explants isolated from E13.5 mutants with a paternally inherited allele and grown in culture is reduced by 18.3%
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• partial loss of proproceptive (TrkC expressing) sensory neurons in mice with a paternally inherited allele
• afferent projections from the proprioceptive neurons are reduced in the intermediate spinal cord of E17.5 mice with a paternally inherited allele
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• mice with a paternally inherited allele, show a 37% reduction in the L1 dorsal root ganglia (DRG) volume at P0
• lumbar DRGs of mice with a paternally inherited allele show a reduction of 26.2% in the density of TrkA-expressing cells and a reduction of 37.8% in TrkC-positive neurons
• mutants with a paternally inherited allele exhibit an increase of apoptosis in lumbar DRG at E12.5, restricted to neurons and does not affect progenitors
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• when this allele is paternally inherited, the monosynaptic reflex response on the plantar muscle shows a higher H-wave amplitude and H/M amplitude ratio
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cellular
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Prader-Willi syndrome | DOID:11983 |
OMIM:176270 |
J:119656 |