mortality/aging
• although present at normal Mendelian ratios at birth, no homozygotes are recovered at P5-P10
|
craniofacial
• styloid process hypoplasia at P0
|
• 7 of 14 newborn homozygotes exhibit hypoplastic middle ear bones with variable expressivity
|
• incus hypoplasia at P0
|
• at P0
|
• stapes hypoplasia at P0
|
• second pharyngeal arches are hypoplastic at E9.5
|
cleft palate
(
J:226497
)
• 11 of 16 newborn homozygotes exhibit cleft palate
|
limbs/digits/tail
• all (16 of 16) newborn homozygotes exhibit postaxial polydactyly with variable expressivity
• extra digit in least severely affected mice consists of only soft tissue without cartilage or bone elements
|
skeleton
• styloid process hypoplasia at P0
|
• 7 of 14 newborn homozygotes exhibit hypoplastic middle ear bones with variable expressivity
|
• incus hypoplasia at P0
|
• at P0
|
• stapes hypoplasia at P0
|
• newborn homozygotes exhibit an additional thoracic (T14) vertebra
|
• newborn homozygotes exhibit an L1 to T14 transformation with small ribs growing from T14
|
embryo
• second pharyngeal arches are hypoplastic at E9.5
|
hearing/vestibular/ear
• 7 of 14 newborn homozygotes exhibit hypoplastic middle ear bones with variable expressivity
|
• incus hypoplasia at P0
|
• at P0
|
• stapes hypoplasia at P0
|
• tympanic ring hypoplasia at P0
|
growth/size/body
cleft palate
(
J:226497
)
• 11 of 16 newborn homozygotes exhibit cleft palate
|
digestive/alimentary system
cleft palate
(
J:226497
)
• 11 of 16 newborn homozygotes exhibit cleft palate
|