limbs/digits/tail
syndactyly
(
J:138805
)
• hindlimbs are more severely affected than forelimbs and the webbing phenotype displays right side dominance
• interdigital space 1 is most severely affected and is accompanied by preaxial synpolydactyly
• Background Sensitivity: penetrance is lower (about 12%) compared to homozygotes on a 129X1/SvJ or mixed 129X1/SvJ and CBA/N background
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• Background Sensitivity: preaxial synpolydactyly is seen in 15% of mice on this background but not in mice on either a 129X1/SvJ or mixed 129X1/SvJ and CBA/N background
• preaxial synpolydactyly is often unilateral with a right side dominance and accompanied by syndactyly
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• 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
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