mortality/aging
• mice are born in Mendelian ratios but none survive past P0
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skeleton
• in 4 of 12 mice the basioccipital bone is fused to the anterior arch of atlas
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• the malleus was mishappen in that the main body is narrow and the distal part is completely disrupted and ends prematurely in a claw-like tip
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• the gonial bone presents with variable hypoplasia and abnormal shape
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• the epiglottis is flattened and stunted in shape
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• in 2 of the 5 mice with 8 vertebro-strenal ribs, an additional sternebra is formed between ribs 7 and 8
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• 5 of 12 mice have 8 vertebro-sternal ribs
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• in 2 of the 5 mice with 8 vertebro-sternal ribs, T8 acquired a T7 identity
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• the arch of atlas is misshapen, broader and often split in the dorsal edge
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• in 3 of 12 mice C1 and C2 are fused
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• 11 of 12 mice have abnormal neural arches
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• bilaterally in 9 of 12 mice and unilaterally in 2 of 12 mice, the neural arches are fused at C2 and C3
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craniofacial
• in 4 of 12 mice the basioccipital bone is fused to the anterior arch of atlas
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• the malleus was mishappen in that the main body is narrow and the distal part is completely disrupted and ends prematurely in a claw-like tip
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• the gonial bone presents with variable hypoplasia and abnormal shape
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• the posterior palate is thickened and ends abnormally distant from the epiglottis with a bulbous shape
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• at E14.5, the palatal shelves fail to fuse in their caudal most part
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• histological staining of sections revealed shortening of the soft palate in newborns
• the posterior palate (velum) is missing
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• the external acoustic meatus is shorter as a consequence of the displaced tympanic ring
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hearing/vestibular/ear
• the external acoustic meatus is shorter as a consequence of the displaced tympanic ring
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• 12 of 12 mice have middle ear defects
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• the malleus was mishappen in that the main body is narrow and the distal part is completely disrupted and ends prematurely in a claw-like tip
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• the gonial bone presents with variable hypoplasia and abnormal shape
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• the tympanic ring is strongly shortened, thicker, ends in a blistered shape and is displaced laterally
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respiratory system
• the epiglottis is flattened and stunted in shape
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• at birth
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behavior/neurological
digestive/alimentary system
• the posterior palate is thickened and ends abnormally distant from the epiglottis with a bulbous shape
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• at E14.5, the palatal shelves fail to fuse in their caudal most part
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• histological staining of sections revealed shortening of the soft palate in newborns
• the posterior palate (velum) is missing
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• the epiglottis is flattened and stunted in shape
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growth/size/body
• the posterior palate is thickened and ends abnormally distant from the epiglottis with a bulbous shape
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• at E14.5, the palatal shelves fail to fuse in their caudal most part
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• histological staining of sections revealed shortening of the soft palate in newborns
• the posterior palate (velum) is missing
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• the external acoustic meatus is shorter as a consequence of the displaced tympanic ring
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