mortality/aging
skeleton
• the alicochlear commissure is smaller than normal
|
• the lateral aspects of the basisphenoid bone are abnormal
• an osseous process extending laterocaudally from the basitrabecular process is seen in about 30% of double homozygotes, in those without this osseous process fibrous tissue is seen in the same location
|
• the proximal part of the ala temporalis is largely absent in all homozygotes at E16.5 and P0 and the lateral wing is malformed
|
• the pterygoids are rostrally displaced and smaller than normal
|
• the zygomatic and temporal bones are replaced with 4 bones that develop from independent ossification centers
|
• the palatal processes are absent and the palatine bone is flattened and displaced rostrally
|
• the zygomatic and temporal bones are replaced with 4 bones that develop from independent ossification centers
|
• the short process is absent and the incus does not articulate with the stapes
|
• in all homozygotes the stapes is smaller and lacks a central hole and the styloids lack a connection with the crista parotica of the otic capsule
|
• the stapes iacks a central hole
|
small stapes
(
J:40427
)
• in all homozygotes the stapes is smaller than normal
|
• an extensive new area of cartilage is seen lateral to the basisphenoid
• the position and shape of this cartilage suggest it is homologous to the palatopterygoquadrate, part of the maxillary arch seen in non-mammalian vertebrates
|
• the incus does not articulate with the stapes
|
nervous system
• the proximal parasympathetic branch to the maxillary region runs medially over the dorsum of the cochlear promontory leaving the cranial cavity via the carotid foramen rather than being entirely extracranial
|
cardiovascular system
• the stapedial artery is absent
|
muscle
• cranial origins of the proximal jaw adductor musculature are abnormal with some having intracranial insertions and many more muscle bellies than normal
• other intracranial muscle fascicles originate from one part and reinsert in another part of the ectopic palatopterygoquadrate cartilage and do not reach the mandible
|
craniofacial
• the alicochlear commissure is smaller than normal
|
• the lateral aspects of the basisphenoid bone are abnormal
• an osseous process extending laterocaudally from the basitrabecular process is seen in about 30% of double homozygotes, in those without this osseous process fibrous tissue is seen in the same location
|
• the proximal part of the ala temporalis is largely absent in all homozygotes at E16.5 and P0 and the lateral wing is malformed
|
• the pterygoids are rostrally displaced and smaller than normal
|
• the zygomatic and temporal bones are replaced with 4 bones that develop from independent ossification centers
|
• the palatal processes are absent and the palatine bone is flattened and displaced rostrally
|
• the zygomatic and temporal bones are replaced with 4 bones that develop from independent ossification centers
|
• the short process is absent and the incus does not articulate with the stapes
|
• in all homozygotes the stapes is smaller and lacks a central hole and the styloids lack a connection with the crista parotica of the otic capsule
|
• the stapes iacks a central hole
|
small stapes
(
J:40427
)
• in all homozygotes the stapes is smaller than normal
|
• cleft secondary palate is seen in about 80% of homozygotes
|
hearing/vestibular/ear
• the stapedial artery is absent
|
• the short process is absent and the incus does not articulate with the stapes
|
• in all homozygotes the stapes is smaller and lacks a central hole and the styloids lack a connection with the crista parotica of the otic capsule
|
• the stapes iacks a central hole
|
small stapes
(
J:40427
)
• in all homozygotes the stapes is smaller than normal
|
digestive/alimentary system
• cleft secondary palate is seen in about 80% of homozygotes
|
growth/size/body
• cleft secondary palate is seen in about 80% of homozygotes
|