limbs/digits/tail
syndactyly
(
J:138805
)
• Background Sensitivity: penetrance is higher (about 96%) compared to homozygotes on a mixed 129X1/SvJ and C57BL/6 background
• hindlimbs are more severely affected than forelimbs but webbing is symmetrical between the left and right side
• penetration rate of webbing is highest for the interdigital spaces 2 and 3
• however, unlike mice on a mixed 129X1/SvJ and C57BL/6 background synpolydactyly is not seen
|
• at E13.5 maturation of the digital analgen is disrupted and fused digital rays of presumptive phalanges are seen
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• at E14 programmed cell death in the proximal portion of the interdigit zone is severely diminished and shallow grooves appear in the distal but not the proximal portion of the interdigital zone
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• tail kinks result from perturbed growth of the vertebral bones
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kinked tail
(
J:138805
)
• variable penetrance and variable severity
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skeleton
• tail kinks result from perturbed growth of the vertebral bones
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• in caudal vertebrae growth plates chondrocyte differentiation is impaired
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cellular
• at E14 programmed cell death in the proximal portion of the interdigit zone is severely diminished and shallow grooves appear in the distal but not the proximal portion of the interdigital zone
|