Analysis Tools
mortality/aging
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• die within 24 hours after birth
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respiratory system
skeleton
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• structures derived from the second arch, including the stapes, styloid process, and lesser horns of the hyoid bone, are absent and replaced by first arch-like derived structures, including duplicated incus, malleus, and tympanic bone, transformed gonial bone, and partially duplicated Meckel's cartilage, with reverse polarity
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• basioccipital bone lacks distinct lateral and rostral ossified borders
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• ectopic Meckel's cartilage
(J:16388)
• partially duplicated
(J:102845)
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• lack the cartilaginous anlage of the styloid bone
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• exhibit an ectopic squamosal bone
• the retrotympanic process of the orthotopic squamosal bone is always bifurcated
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• the retrotympanic process of the orthotopic squamosal bone is always bifurcated
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• mutants have two symmetrically arranged tympanic bones that are always shorter and broader than their wild-type counterpart
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• lack the lesser horn of the hyoid bone
(J:16388)
• the lesser horns of the hyoid bone are absent
(J:102845)
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• exhibit two head-to-head incudes fused together at the tips of their ventromedial processes
(J:16388)
• the orthotopic incus is identical to wild-type, however the heterotopic incus is often smaller
(J:16388)
• duplicated
(J:102845)
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• middle ear contains two symmetrical mallei fused at the level of their neck and manubrium
(J:16388)
• the ectopic mallus is continuous with a truncated ectopic Meckel's cartilage and is often smaller than its orthotopic counterpart
(J:16388)
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• the gonial bone appears transformed such that it is enlarged and stretches across, bridging over the two halves of the mirror duplication
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• the gonial bone is larger than in wild-type
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• the processus brevis is not seen in the cartilaginous complex formed by the two mallei
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• lack the cartilaginous anlage of the stapes
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• second arch mesenchymal neural crest cell identity is changed to first arch identity, resulting in homeotic transformation of the second to first arch skeletal elements characterized by mirror-image duplications of a subset of first arch derived skeletal elements
• mesenchymal neural crest cell derivatives of the second arch are lacking
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• do not exhibit any of the second pharyngeal (hyoid) arch neural crest cell-derived cartilaginous elements
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hearing/vestibular/ear
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• exhibit two head-to-head incudes fused together at the tips of their ventromedial processes
(J:16388)
• the orthotopic incus is identical to wild-type, however the heterotopic incus is often smaller
(J:16388)
• duplicated
(J:102845)
|
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• middle ear contains two symmetrical mallei fused at the level of their neck and manubrium
(J:16388)
• the ectopic mallus is continuous with a truncated ectopic Meckel's cartilage and is often smaller than its orthotopic counterpart
(J:16388)
|
|
• the gonial bone appears transformed such that it is enlarged and stretches across, bridging over the two halves of the mirror duplication
|
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• the gonial bone is larger than in wild-type
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• the processus brevis is not seen in the cartilaginous complex formed by the two mallei
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• lack the cartilaginous anlage of the stapes
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• all lack the pinna of the external ear
(J:16388)
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• scala vestibuli is either lacking or collapsed
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• cartilaginous otic capsule lacks the suprafacial commissure, the oval window that normally encompasses the stapedial footplate, and the round window
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• the middle ear cavity is reduced
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• the muscle of the malleus, the tensor typani, is enlarged
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• tympanic membrane is reduced
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• duplicated tympanic bone
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craniofacial
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• structures derived from the second arch, including the stapes, styloid process, and lesser horns of the hyoid bone, are absent and replaced by first arch-like derived structures, including duplicated incus, malleus, and tympanic bone, transformed gonial bone, and partially duplicated Meckel's cartilage, with reverse polarity
|
|
• basioccipital bone lacks distinct lateral and rostral ossified borders
|
|
• ectopic Meckel's cartilage
(J:16388)
• partially duplicated
(J:102845)
|
|
• lack the cartilaginous anlage of the styloid bone
|
|
• exhibit an ectopic squamosal bone
• the retrotympanic process of the orthotopic squamosal bone is always bifurcated
|
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• the retrotympanic process of the orthotopic squamosal bone is always bifurcated
|
|
• mutants have two symmetrically arranged tympanic bones that are always shorter and broader than their wild-type counterpart
|
|
• lack the lesser horn of the hyoid bone
(J:16388)
• the lesser horns of the hyoid bone are absent
(J:102845)
|
|
• exhibit two head-to-head incudes fused together at the tips of their ventromedial processes
(J:16388)
• the orthotopic incus is identical to wild-type, however the heterotopic incus is often smaller
(J:16388)
• duplicated
(J:102845)
|
|
• middle ear contains two symmetrical mallei fused at the level of their neck and manubrium
(J:16388)
• the ectopic mallus is continuous with a truncated ectopic Meckel's cartilage and is often smaller than its orthotopic counterpart
(J:16388)
|
|
• the gonial bone appears transformed such that it is enlarged and stretches across, bridging over the two halves of the mirror duplication
|
|
• the gonial bone is larger than in wild-type
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• the processus brevis is not seen in the cartilaginous complex formed by the two mallei
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• lack the cartilaginous anlage of the stapes
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• 82% exhibit a wide cleft of the secondary palate
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bifid tongue
(
J:16388
)
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• cleft of the root of the tongue
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• all lack the pinna of the external ear
(J:16388)
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behavior/neurological
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• milk is not found in stomachs of mutants and the tongue and cleft abnormalities suggest inability to suck
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digestive/alimentary system
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• 82% exhibit a wide cleft of the secondary palate
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bifid tongue
(
J:16388
)
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• cleft of the root of the tongue
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nervous system
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• organization of Ascl1+ cells in r2 and r3 resembles that of r1
• neuronal differentiation is altered dorsal-ventrally in r2 and r3
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• r1 is expanded caudally
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• neuronal differentiation is altered dorsal-ventrally in r2 and r3
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• neuronal differentiation is altered dorsal-ventrally in r2 and r3
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• size of the facial nucleus is reduced in 4 of 6 mutants
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• caliber of the facial nerve is reduced in 4 of 6 mutants
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muscle
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• the muscle of the malleus, the tensor typani, is enlarged
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embryo
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• r1 is expanded caudally
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• neuronal differentiation is altered dorsal-ventrally in r2 and r3
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• neuronal differentiation is altered dorsal-ventrally in r2 and r3
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cellular
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• organization of Ascl1+ cells in r2 and r3 resembles that of r1
• neuronal differentiation is altered dorsal-ventrally in r2 and r3
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growth/size/body
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• 82% exhibit a wide cleft of the secondary palate
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bifid tongue
(
J:16388
)
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• cleft of the root of the tongue
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• all lack the pinna of the external ear
(J:16388)
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