skeleton
• reduction in the number of sternebrae from 5 to 4
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• as a result of R1 and R2 fusion, the sternocostal joint of the ribs is abnormal sometimes and produces changes in sternum segmentation
• on rare occasions, the eighth rib forms an ectopic joint with the sternum
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• in severe cases, the first rib is reduced or absent
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rib fusion
(
J:86684
)
• the second rib is misdirected, sometimes producing fusion between the first and the second pair of ribs before attaching to the top of the sternum
• on rare occasions, the third rib is abnormally fused to second (R2) and first (R1) ribs
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• thoracic homeotic transformations: the first thoracic (T1) vertebra develops into the more anterior cervical vertebra C7, and the second thoracic (T2) vertebra develops into T1
• Background Sensitivity: 92% penetrance on a 129S/SvEv genetic background, a higher percentage than on a mixed 129S7/SvEvBrd and C57BL/6 background
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