cellular
• exhibit defects in osteoblast differentiation
• osteoblasts grown in culture show reduced formation of bone modules, indicating reduced differentiation
|
mortality/aging
• die immediately after birth
|
skeleton
• malformed
|
• alternations in the temporal processes of the squamous bone
|
• malformation of the lesser horns and the body of the hyoid bone
|
• the lesser horns are fused and show no articulation
|
• incisor teeth are missing at E17.5, although tooth germs are detected at E13.5
|
• at E18.5, the anterior part of the mandible is missing, however the posterior half appears normal
|
• shorter lower jaw at E14.5 and E17.5
|
• malformed
|
• malformed
|
micrognathia
(
J:115876
)
• severe
|
• malformed
|
• thyroid cartilage is missing from the laryngeal cartilages
• however, the aryenoid, cricoid cartilages and the tracheal rings are normal
|
• decrease in bone volume/total bone volume
|
• exhibit defects in osteoblast differentiation
• osteoblasts grown in culture show reduced formation of bone modules, indicating reduced differentiation
|
• virtual absence of osteoid seams in the trabeculae of developing bones, suggesting defect in extracellular matrix deposition
• trabeculae of bones are shorter and thinner than in wild-type
• decrease in trabeculae number per mm
• however, the growth plate is normal
|
• E15.5 mutants show delayed bone formation
|
• E15.5 mutants show delayed bone mineralization
• less mineralization of the maxilla and skull bones
|
craniofacial
• malformed
|
• alternations in the temporal processes of the squamous bone
|
• malformation of the lesser horns and the body of the hyoid bone
|
• the lesser horns are fused and show no articulation
|
• incisor teeth are missing at E17.5, although tooth germs are detected at E13.5
|
• at E18.5, the anterior part of the mandible is missing, however the posterior half appears normal
|
• shorter lower jaw at E14.5 and E17.5
|
• malformed
|
• malformed
|
micrognathia
(
J:115876
)
• severe
|
• malformed
|
• increased apoptosis in the first branchial arch at E10.5
|
• the maxillary processes do not converge at the tip of the snout
|
• palatal shelf mesenchyme generates bulges not seen in wild-type
|
• at E17.5, the palatal shelves of mutant embryos fail to grow toward the fusion line
|
• at E17.5
|
• E17.5 mutants have a smaller and shorter tongue
|
short tongue
(
J:115876
)
• E17.5 mutants have a shorter tongue
|
embryo
• increased apoptosis in the first branchial arch at E10.5
|
limbs/digits/tail
• shorter hindlimbs at E17.5
|
digestive/alimentary system
• palatal shelf mesenchyme generates bulges not seen in wild-type
|
• at E17.5, the palatal shelves of mutant embryos fail to grow toward the fusion line
|
• at E17.5
|
• E17.5 mutants have a smaller and shorter tongue
|
short tongue
(
J:115876
)
• E17.5 mutants have a shorter tongue
|
respiratory system
• malformed
|
• thyroid cartilage is missing from the laryngeal cartilages
• however, the aryenoid, cricoid cartilages and the tracheal rings are normal
|
growth/size/body
• incisor teeth are missing at E17.5, although tooth germs are detected at E13.5
|
• malformed
|
• the maxillary processes do not converge at the tip of the snout
|
• palatal shelf mesenchyme generates bulges not seen in wild-type
|
• at E17.5, the palatal shelves of mutant embryos fail to grow toward the fusion line
|
• at E17.5
|
• E17.5 mutants have a smaller and shorter tongue
|
short tongue
(
J:115876
)
• E17.5 mutants have a shorter tongue
|