Analysis Tools
mortality/aging
|
• the number of heterozygote pups at 10 days of age is 35% less than expected
• survivors are viable and fertile
• successive generations show reduced levels of neonatal loss
|
|
• the number of heterozygous embryos at the E12.5-E19.5 stage is 10% less than expected
|
growth/size/body
barrel chest
(
J:135676
)
|
• rib cages are barrel chested with overgrowth of ribs though not to the same degree as observed in homozygotes
|
skeleton
|
• skulls are slightly larger and flatter than wild-type mice
|
|
• malformation of the wrist elements is evident though not to the same degree as observed in homozygotes
|
|
• fused tarsal bones are found in the feet though not to the same degree as observed in homozygotes
|
|
• hips of E18.5 and E19.5 embryos are dislocated
|
|
• patella appears flattened though not to the same degree as observed in homozygotes
|
|
• vertebrae are enlarged in 4 of 6 mice
|
|
• overgrowth of the axial skeleton leads to an increased length of the long bones
|
|
• skeletons are larger than in controls though not to the same degree as observed in homozygotes
|
|
• 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
|
|
• chondrocytes found in E16.5 embryos are enlarged in size
• the ordered transition from columnar to pre-hypertrophic chondrocytes is disrupted in these mice
|
|
• once ossification occurs during embryonic development, there is increased mineralization of the bone compared to wild-type
|
|
• 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
|
|
• joints are abnormally articulated leading to a laxity of the limbs
|
vision/eye
|
• cataracts are evident in the eyes of some mice (n= 9/28) between the ages of 6 and 13 months
• cataracts consist of vacoulation of degenerating lenses with loss of the surface epithelium
|
muscle
|
• hypertrophic cardiomyopathy of the ventricles suggestive of cardiac failure in noted in E13.5 embryos
• defects are less severe than in homozygote mice
|
limbs/digits/tail
|
• malformation of the wrist elements is evident though not to the same degree as observed in homozygotes
|
|
• fused tarsal bones are found in the feet though not to the same degree as observed in homozygotes
|
|
• hips of E18.5 and E19.5 embryos are dislocated
|
|
• patella appears flattened though not to the same degree as observed in homozygotes
|
|
• vertebrae are enlarged in 4 of 6 mice
|
kinked tail
(
J:135676
)
|
• abnormalities in caudal vertebrae segmentation of some mice leads to kinked tails
|
craniofacial
|
• skulls are slightly larger and flatter than wild-type mice
|
cardiovascular system
|
• at E13.5
|
|
• at E13.5
|
|
• venous dilation and congestion are observed in the kidney, liver and other organs of E13.5 embryos
|
|
• 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
• this phenotype is less severe than in homozygote mice
|
|
• the septal wall of the right ventricle frequently has calcium deposits in E13.5 embryos
|
|
• hypertrophic cardiomyopathy of the ventricles suggestive of cardiac failure in noted in E13.5 embryos
• defects are less severe than in homozygote mice
|
behavior/neurological
limp posture
(
J:135676
)
|
• joints are abnormally articulated leading to a laxity of the limbs
|
liver/biliary system
|
• at E13.5
|
renal/urinary system
|
• at E13.5
|
