mortality/aging
• homozygotes die within one hour after birth
|
embryo
• posterior truncation is first evident at E13
• newborn homozygotes show absence of skeletal or cartilaginous elements posterior to the pelvis
|
• newborn homozygotes exhibit severe truncation of the anterior-posterior axis
|
• cells from the mutant paraxial mesoderm fail to form epithelia, resulting in disrupted somite formation
|
• homozygotes exhibit deficient somite epithelialization
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skeleton
• mutant basioccipital and exoccipital bones are fused to each other and to an abnormal skeletal structure that is probably a remnant of the atlas
|
• mutant basioccipital and exoccipital bones are fused to each other and to an abnormal skeletal structure that is probably a remnant of the atlas
|
• mutant sterna lack intersternebral cartilage which attaches ribs to the sternum
|
• mutant ribs are detached from the vertebral column
|
• newborn homozygotes display underossified, malformed ribs, despite obvious segmental periodicity
|
• newborn homozygotes lack several posterior ribs
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rib fusion
(
J:37117
)
• newborn homozygotes exhibit a vertebral column of abnormal cervical flexure
|
• newborn homozygotes have cervical, thoracic and lumbar vertebrae but display an unsegmented cartilaginous mass that extends from the sacral region into the pelvis
• mutants exhibit 20-25 vertebral structures with dual ossification centers in the ventromedial region, random fusions in the lateral region, and malformations
|
• mutant basioccipital and exoccipital bones are fused to each other and to an abnormal skeletal structure that is probably a remnant of the atlas
|
• at E11.5, homozygotes lack a clearly identifiable sclerotome in transverse sections of the caudal tail region
|
• newborn homozygotes display overossified sterna that lack intersternebral cartilage
|
craniofacial
• mutant basioccipital and exoccipital bones are fused to each other and to an abnormal skeletal structure that is probably a remnant of the atlas
|
• mutant basioccipital and exoccipital bones are fused to each other and to an abnormal skeletal structure that is probably a remnant of the atlas
|
• mutant basioccipital and exoccipital bones are fused to each other and to an abnormal skeletal structure that is probably a remnant of the atlas
|
muscle
• at E11.5, homozygotes lack a clearly identifiable myotome in transverse sections of the caudal tail region
|
• newborn homozygotes show several defects in axial musculature and muscles of the limb and body wall
|
• mutant intercostal muscles are hypertrophic and abnormally patterned
|
• mutant limb muscles are hypertrophic and abnormally patterned
|
limbs/digits/tail
short tail
(
J:37117
)
curly tail
(
J:37117
)
behavior/neurological
• newborn homozygotes display abnormal limb posture
|
hearing/vestibular/ear
respiratory system
growth/size/body
• newborn homozygotes lack the transverse abdominal muscle of the abdominal wall
|
integument
loose skin
(
J:37117
)
• at E11.5, homozygotes lack a clearly identifiable dermatome in transverse sections of the caudal tail region
|