limbs/digits/tail
• the proximal phalanges of digits 2 and 5 are duplicated on all 4 limbs
• the proximal phalanges of digits 2 and 5 are misshapen on the forelimbs
• at P0 about 53% of mice show partial duplications of the proximal phalanges of digits 3 and 4
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• at E16.5 the shoulder and elbow joints are smaller, less extensive, and contain numerous cells unlike in wild-type controls
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• at E16.5 the carpal and phalangeal joint regions are larger than normal, filled with closely packed cells and lack distinct joint cavities
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short limbs
(
J:152912
)
• at E16.5 and P3 all of the skeletal elements are about half the length of wild-type littermates
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behavior/neurological
• move in a manner similar to pinnipeds
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skeleton
• the proximal phalanges of digits 2 and 5 are duplicated on all 4 limbs
• the proximal phalanges of digits 2 and 5 are misshapen on the forelimbs
• at P0 about 53% of mice show partial duplications of the proximal phalanges of digits 3 and 4
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• staining analysis indicates that deposition of proteoglycans and glycosaminoglycans is reduced
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• growth plates are severely disturbed and disorganized with increased cell density reflecting a decreased in the amount of cartilage matrix
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• at P9 the hypertrophic zone fails to differentiate in the central region of the growth plate and vascular invasion of the growth plate is not seen
• no secondary ossification center is seen at P21
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• columnar organization is absent
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• in long bone epiphyseal plates the chondrocytes are small, round and randomly distributed
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• decrease in the number of hypertrophic chondrocytes in the long bone epiphyseal plates
• however, there is little to no difference in chondrocyte proliferation in the epiphyseal plates
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• at E16.5 the carpal and phalangeal joint regions are larger than normal, filled with closely packed cells and lack distinct joint cavities
• at E16.5 the shoulder and elbow joints are smaller, less extensive, and contain numerous cells unlike in wild-type controls
• formation of synovial joint cavities is defective in the proximal joints of the limbs
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