Analysis Tools
mortality/aging
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• the number of homozygote pups at 10 days of age is 55% less than expected
• survivors are viable and fertile
• successive generations show reduced levels of neonatal loss
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• the number of homozygous embryos at the E12.5-E19.5 stage is 20% less than expected
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growth/size/body
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• body wall of E16.5 embryos are abnormally thin and transparent
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barrel chest
(
J:135676
)
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• rib cages are barrel chested with overgrowth of ribs
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skeleton
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• skulls are slightly larger and flatter than wild-type mice
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• malformation of the wrist elements is evident
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• fused tarsal bones are found in the feet
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• hips of E18.5 and E19.5 embryos are dislocated
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• patella appears flattened and the meniscus is expanded
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• vertebrae are enlarged in all mice
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• overgrowth of the axial skeleton leads to an increased length of the long bones
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• skeletons are larger than in controls
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• abnormal chondrogenesis occurs in E16.5 embryos with hyperplasia occurring in the cartilage elements
• demarcation between mesenchyme and chondrocytes seen in wild-type embryos is absent
• the ordered transition from columnar to pre-hypertrophic chondrocytes is disrupted in these mice
• cultured mouse embryonic fibroblasts have enhanced ability to differentiate into chondrocytes than control cultures
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• chondrocytes found in E16.5 embryos are enlarged in size
• the ordered transition from columnar to pre-hypertrophic chondrocytes is disrupted in these mice
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• once ossification occurs during embryonic development, there is increased mineralization of the bone compared to wild-type
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• ossification of the digits and vertebrae in E16.5 embryos is delayed
• the tightly ordered sequential ossification of the vertebrae is disrupted in the mutants
• once ossification occurs there is increased mineralization of the bone compared to wild-type
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• joints are abnormally articulated leading to a laxity of the limbs
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muscle
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• hypertrophic cardiomyopathy of the ventricles suggestive of cardiac failure in noted in E13.5 embryos
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• subcutaneous muscle and a subset of hypaxial muscles (hip, shoulder, body wall, inter-costal and inter-vertebral muscle) degenerate starting around 5 months of age
• degeneration includes atrophy and trans-differentation to immature adipose cells
• these tran-differentated cells have a bubbly cytoplasmic appearance and is most evident in the subcutaneous muscle
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vision/eye
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• cataracts are evident in the eyes of some mice (n= 10/23) between the ages of 6 and 13 months
• cataracts consist of vacoulation of degenerating lenses with loss of the surface epithelium
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limbs/digits/tail
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• malformation of the wrist elements is evident
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• fused tarsal bones are found in the feet
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• hips of E18.5 and E19.5 embryos are dislocated
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• patella appears flattened and the meniscus is expanded
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• vertebrae are enlarged in all mice
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kinked tail
(
J:135676
)
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• abnormalities in caudal vertebrae segmentation of some mice leads to kinked tails
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craniofacial
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• skulls are slightly larger and flatter than wild-type mice
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cardiovascular system
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• at E13.5
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• at E13.5
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• venous dilation and congestion are observed in the kidney, liver and other organs of E13.5 embryos
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• endocardial cushion of E13.5 embyros is enlarged with a broader base extending laterally compared to wild-type littermates
• there is a delay in septum fusing to the endocardial cushion
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• the caudal end of the septum in E13.5 embryos exhibits hypertrophy and accumulation of blood in the subendothelial space between the septum and right ventricle
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• the septal wall of the right ventricle frequently has calcium deposits in E13.5 embryos
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• hypertrophic cardiomyopathy of the ventricles suggestive of cardiac failure in noted in E13.5 embryos
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behavior/neurological
limp posture
(
J:135676
)
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• joints are abnormally articulated leading to a laxity of the limbs
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liver/biliary system
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• at E13.5
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renal/urinary system
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• at E13.5
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