Analysis Tools
mortality/aging
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• homozygous mutant pups die on their first day of postnatal life (P0) due to ineffective respiration
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embryo
| N |
• through E12.5, homozygous mutant embryos appear grossly normal
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growth/size/body
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• large cleft at the midline of the secondary (posterior large) palate; fully penetrant
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• large cleft at the midline of the secondary (posterior large) palate; fully penetrant
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• homozygous neonates are visibly smaller than wild-type newborns
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• homozygous neonates weigh 30.3% less (1.15 +/- 0.11 g vs. 1.65 +/- 0.36 g) than controls
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limbs/digits/tail
bowed tibia
(
J:140470
)
short limbs
(
J:140470
)
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• all four limbs are shorter than those of wild-type mice
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• the vertebral bodies of the coccygeal vertebrae posterior to co11 are absent or reduced in size
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skeleton
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• some homozygotes (~66% of those examined) have a hole in the basisphenoied bone
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• the maxilla is malformed and displaced laterally
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• the palatine bones are malformed and displaced laterally
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bowed tibia
(
J:140470
)
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• the vertebral bodies of the coccygeal vertebrae posterior to co11 are absent or reduced in size
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• delayed differention of a central subpopulation of early, round proliferative chondrocytes (RPCs) into flat proliferative chondrocytes (FPCs) and thence into hypertrophic chondrocytes (HCs): whereas in humeri of wild-type embryos the HC layer is clearly defined at E13.5, in mutant embryos HCs are not observed until E15.5
• the mitotic indices of flat proliferative chondrocytes (FPCs) is significantly lower in humeri of mutant than of wild type embryos at E15.5
• the mitotic indices of RPCs is similar in mutant and wild type E15.5 humeri
• at birth, the cartilage of the long bones appears normal
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• mutants exhibit shortening of the long bones of the forelegs - the humerus, radius and ulna - and of the hindlegs - the femur, tibia and fibula
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• dysraphia or asymmetric fusion of the sternum occurs in ~50% of mutants
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• the posterior tip of the xiphoid process is absent or separated bilaterally
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• the vertebral bodies of the third through sixth (c3-c6) cervical vertebrae are absent or reduced in size
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• most mutants exhibit broadening of the pit at the boundary of the dorsal arch and the wing of the atlas (first cervical vertebra; c1)
• the cartilage of the ventral arch of the atlas (c1) is fused to that of the axis (c2)
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• the cartilage of the ventral arch of the axis (c2) is fused to that of the atlas (c1)
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• the shortness of the limbs is due to significant reduction of the ossified region of the long bones
• the second phalanges (p2) are un- or severely under-mineralized
• phalanges p1 and p3 and the metacarpals/metatarsals are slighly under-mineralized
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craniofacial
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• some homozygotes (~66% of those examined) have a hole in the basisphenoied bone
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• the maxilla is malformed and displaced laterally
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• the palatine bones are malformed and displaced laterally
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• large cleft at the midline of the secondary (posterior large) palate; fully penetrant
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• large cleft at the midline of the secondary (posterior large) palate; fully penetrant
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digestive/alimentary system
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• large cleft at the midline of the secondary (posterior large) palate; fully penetrant
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• large cleft at the midline of the secondary (posterior large) palate; fully penetrant
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• both the small and large intestines are shorter in mutant than in wild type embryos/neonates; this is apparent at E16.5
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homeostasis/metabolism
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• although homozygous mutant neonates appear to be breathing, they become cyanotic and die on day P0
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respiratory system
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• lung and alveolar expansion is incomplete in mutant vs. wild type neonates
• air bubbles accumulate in the stomachs and intestines of mutant neonates, suggesting the cleft palate is the cause of their respiratory difficulty
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