mortality/aging
• all but one mice die within 1 day of birth
|
skeleton
• apoptosis of skeletal cells is increased 280+/-70% compared to in wild-type mice
• the number of bone lining cells is decreased compared to in wild-type mice and the majority of connective tissue cells are dispersed between individual bone trabeculae
|
• mice exhibit poor development of the frontal bones
|
• the parietal bone near the sagittal suture is abnormal and contains azurophilic patches
|
• mice exhibit poor development of the parietal bones
|
• the pterygoid bone is underdeveloped
|
• mice exhibit a thinning of the cranial vault proportional to the loss of wild-type alleles
|
• trabeculae of the mandible are aberrant and thin compared to in wild-type mice
|
• mice exhibit poor development of the nasal bones
|
• mice exhibit pitting and lack of fusion to the maxilla
|
• mice exhibit hypoplasia of the vomer
|
• mice exhibit a domed skull that is more severe than in Mmp14tm1Hbh homozygotes
|
• severity is proportional to the number of wild-type alleles lost
• at E18.5, humerus cortical length is 51+/-4.75% of wild-type
|
short femur
(
J:130212
)
• severity is proportional to the number of wild-type alleles lost
• at E18.5, femur length is 65+/-2.5% of wild-type
• however, length at day 30 is normal
|
• cortical bone formation is abnormal and the humeri and femora exhibit shortening of the bone cortices proportional to the number of wild-type alleles lost
|
• mice exhibit a lack of trabeculae in the marrow cavity
|
• Meckel's cartilage is conspicuous in size
|
• the proliferating zone contains fewer cells than in wild-type mice
|
• the hypertrophic chondrocyte zone is elongated compared to in wild-type mice
|
• the number of proliferating chondrocytes in the distal femoral epiphysis decreases proportionally to the number of wild-type alleles lost to 25.7+/-4.8% of wild-type
|
• unlike in wild-type mice primary ossification centers are occupied by un-degraded hypertrophic cartilage
• mice exhibit diminished bone formation
|
growth/size/body
• mice exhibit poor development of the nasal bones
|
• fusion is absent
|
• palatial shelf growth is reduced
|
• mice exhibit a shorter mid-face than in Mmp14tm1Hbh homozygotes
|
• 80% of mice exhibit cleft palates
|
short snout
(
J:130212
)
• mice are born small, moribund and fail to eat
|
limbs/digits/tail
• severity is proportional to the number of wild-type alleles lost
• at E18.5, humerus cortical length is 51+/-4.75% of wild-type
|
short femur
(
J:130212
)
• severity is proportional to the number of wild-type alleles lost
• at E18.5, femur length is 65+/-2.5% of wild-type
• however, length at day 30 is normal
|
short limbs
(
J:130212
)
craniofacial
• Meckel's cartilage is conspicuous in size
|
• mice exhibit poor development of the frontal bones
|
• the parietal bone near the sagittal suture is abnormal and contains azurophilic patches
|
• mice exhibit poor development of the parietal bones
|
• the pterygoid bone is underdeveloped
|
• mice exhibit a thinning of the cranial vault proportional to the loss of wild-type alleles
|
• trabeculae of the mandible are aberrant and thin compared to in wild-type mice
|
• mice exhibit poor development of the nasal bones
|
• mice exhibit pitting and lack of fusion to the maxilla
|
• mice exhibit hypoplasia of the vomer
|
• mice exhibit a domed skull that is more severe than in Mmp14tm1Hbh homozygotes
|
• fusion is absent
|
• palatial shelf growth is reduced
|
• mice exhibit a shorter mid-face than in Mmp14tm1Hbh homozygotes
|
• 80% of mice exhibit cleft palates
|
short snout
(
J:130212
)
digestive/alimentary system
• fusion is absent
|
• palatial shelf growth is reduced
|
• 80% of mice exhibit cleft palates
|
respiratory system
• mice exhibit poor development of the nasal bones
|