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
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• the proximal part of the ala temporalis is largely absent in all homozygotes at E16.5 and P0 and the lateral wing is malformed
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• the pterygoids are rostrally displaced and smaller than normal
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• the zygomatic and temporal bones are replaced with 4 bones that develop from independent ossification centers
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• the maxillary molars are absent and ectopic cartilage nodules with some bone and connective tissue are seen in their place
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• the caudal part of the maxilla is larger than normal
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• the palatal processes are absent and the palatine bone is flattened and displaced rostrally
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• the zygomatic and temporal bones are replaced with 4 bones that develop from independent ossification centers
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• the short process is absent and the incus does not articulate with the stapes
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• in all double homozygotes the stapes is smaller and lacks a central hole and the styloids lack a connection with the crista parotica of the otic capsule
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• the stapes lacks a central hole
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small stapes
(
J:40427
)
• in all double 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
• ectopic cartilage nodules with some bone and connective tissue are seen in place of the maxillary molars
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• the incus does not articulate with the stapes
|
nervous system
• neurons born in the lateral ganglionic eminence before about E12.5 migrate normally but those born after about E12.5 mostly fail to migrate out of the lateral ganglionic eminence
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• the periventricular region of the striatum has an accumulation of densely packed, darkly stained cells resembling undifferentiated cells in the lateral ganglionic eminence
• the mutant lateral ganglionic eminence has a lower density of proliferating cells and increased population of partially differentiated neurons
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• at E13.5 the total number of Gnrh1 expressing cells in the olfactory epithelium is reduced to 612+/-177 compared to 945+/-62 in wild-type; however, the numbers of these cells that have not yet crossed into the central nervous system is similar to wild type
• at E16.5 double homozygotes have a similar number of septohypothalamic Gnrh1 expressing neurons but most of these are located in the central nervous system unlike in wild-type mice
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• at P0 immunoreactivity for markers of GABA neurons is decreased in the olfactory bulb and periglomerular interneurons
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• 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
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growth/size/body
• the maxillary molars are absent and ectopic cartilage nodules with some bone and connective tissue are seen in their place
|
• cleft secondary palate is seen in 100% of double homozygotes
|
cardiovascular system
• the stapedial artery is absent
|
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 maxillary molars are absent and ectopic cartilage nodules with some bone and connective tissue are seen in their place
|
• the caudal part of the maxilla is larger than normal
|
• 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 double 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 lacks a central hole
|
small stapes
(
J:40427
)
• in all double homozygotes the stapes is smaller than normal
|
• cleft secondary palate is seen in 100% of double 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 double 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 lacks a central hole
|
small stapes
(
J:40427
)
• in all double homozygotes the stapes is smaller than normal
|
digestive/alimentary system
• cleft secondary palate is seen in 100% of double homozygotes
|
cellular
• neurons born in the lateral ganglionic eminence before about E12.5 migrate normally but those born after about E12.5 mostly fail to migrate out of the lateral ganglionic eminence
|