Results

Table 3.1 outlines ages of pudgy and non-affected mice, sibling groups with two or more littermates affected, and types of structural studies performed in each mouse. Table 3.2 outlines the age distribution of the studies.

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Results

Table 3.1 outlines ages of pudgy and non-affected mice, sibling groups with two or more littermates affected, and types of structural studies performed in each mouse. Table 3.2 outlines the age distribution of the studies.

3.1

Gross Appearance

An affected mouse is shorter than a non-affected one by approximately 25 % and, from birth onward, has a short curled tail in comparison with the longer straight tail of the normal. Photographs comparing normal (pu/+) mice and age-matched littermates of affected pudgy (pu/pu) mice are shown at late embryonic, newborn, and 6 weeks postnatal ages (Fig. 3.1a–c).

3.2 3.2.1

Whole Mount Appearances Overview

Twelve mice underwent whole mount preparation; seven were affected mutants (pu/pu) and five were normal (pu/+). In the affected mutants, one specimen per time frame was assessed at birth (newborn), 8 days, 9 days, and 3 weeks, and three specimens were assessed at 4 weeks of age. In the normal mice, one specimen per time frame was assessed at birth (newborn), 8 days and 3 weeks, and two specimens were assessed at 4 weeks of age. In each pudgy (pu/pu) mouse, the pattern of vertebral and rib abnormalities was different from the other pudgy mice, including those affected siblings from the same mother (same litter, same pregnancy). Deformation was seen in virtually every cervical, thoracic, lumbar, sacral, and © Springer International Publishing Switzerland 2016 F. Shapiro, Disordered Vertebral and Rib Morphology in Pudgy Mice, Advances in Anatomy, Embryology and Cell Biology 221, DOI 10.1007/978-3-319-43151-2_3

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3 Results

Table 3.1 Ages, distributions, and investigations in pudgy and non-affected mice

(continued)

3.2 Whole Mount Appearances

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Table 3.1 (continued)

tail vertebra in each pudgy mouse. Abnormalities involved hemivertebrae, wedged vertebrae, bifid (butterfly) vertebrae, and partially (unilateral bar) or completely (block) fused adjacent vertebrae. The rib cage was always abnormal bilaterally in asymmetric fashion. The intervertebral discs were irregular in shape and position; only rarely was the nucleus pulposus central and symmetric. There was often cartilage tissue continuity between adjacent vertebral bodies across the space where the intervertebral disc/nucleus pulposus would normally be positioned but was absent. Whole mount specimens are illustrated for normal (pu/+) mice in Fig. 3.2a–i and for pudgy (pu/pu) mice in Fig. 3.3a–f.

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3 Results

Table 3.2 Age distribution of studies

Fig. 3.1 Photographs show age-matched and litter-matched mice (pudgy, pu/pu, at the right and non-affected, pu/+, at the left) from: (a) late embryonic, (b) newborn, and (c) 6 weeks postnatal time periods. In the late embryo pu/pu mouse (a), the tail is short but not yet deformed (curled); in the newborn pu/pu (b), it is short and curled (arrow); and at 6 weeks (c) it is markedly shortened and deformed. The arrows point to the tails

3.2 Whole Mount Appearances

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Fig. 3.2 Whole mount preparations of normal non-affected (pu/+) mice are shown. The cartila