mortality/aging
• mice are born in Mendelian ratios but die shortly after birth
|
embryo
• disrupted somite development, patterning, and differentiation
• absence of ventral (ribs and vertebrae) and dorsal (skeletal muscle) somite derivatives
|
• patterning and specification of the posterior and anterior halves of somites are defective
|
• newly formed somites are irregular in shape and fail to epithelialize
|
• newly formed somites are irregularly sized
|
growth/size/body
• newborn pups present with drastically reduced trunk length
|
limbs/digits/tail
• tail vertebrae are completely absent
|
• rudimentary stump lacking skeletal elements
|
muscle
• myotomes of anterior somites are fused ventrally but separated dorsally, a defect in epithelialization
|
• epithelial dermomyotome is absent at E10.5
|
• most skeletal muscles are absent or reduced in size in the mutant, including prevertebral muscles of the neck, the epaxial muscles of the trunk, the hypaxial muscles of the trunk including those of the abdominal wall and intercostal muscles
|
• the epaxial muscles of the trunk are severely depleted
|
• the hypaxial muscles of the trunk including those of the abdominal wall and intercostal muscles are severely depleted
|
skeleton
• mutants lack an axial skeleton
|
• occipital skull bones are hypoplastic
|
• sternum develops abnormally
|
absent ribs
(
J:84754
)
• although centers of ossification are seen at the cervical and thoracic levels, normal ribs are not observed
|
• vertebral column is absent and largely replaced by two strips of fused cartilage, in a position corresponding to the neural arches
|
• ossified, deformed vertebrae are formed at the cervical and thoracic level but more posterior lumbar vertebrae are present only as cartilage condensations at the position expected of the neural arches
|
• tail vertebrae are completely absent
|
• segmented organization of the ventral sclerotome is lost and instead a uniform unsegmented mesenchyme is observed
• marker analysis indicates perturbed sclerotome differentiation but not specification
|
adipose tissue
• brown fat overlying the shoulders muscles is absent
|
craniofacial
• occipital skull bones are hypoplastic
|
homeostasis/metabolism
nervous system
• dorsal root ganglia are irregular in shape and size and fused together
|
• spinal nerves are irregular in spacing and direction
|
integument
loose skin
(
J:84754
)