mortality/aging
• homozygous mutants die shortly after birth
|
cellular
• massive cell death is seen in the core mesenchyme of the limb buds by E11.0
|
• massive cell death is seen in the metanephric mesenchyme by E11.0
|
homeostasis/metabolism
limbs/digits/tail
oligodactyly
(
J:90991
)
• the number of digits is reduced and posterior identity and soft tissue webbing are lost
|
• the ulna and radius fuse during the onset of ossification
• only one skeletal element forms in hind limbs
|
• metacarpal fusions are seen
|
• the zeugopods are abnormal and the autopods are truncated
|
• the apical ectodermal ridge morphology is disrupted
|
• massive cell death is seen in the core mesenchyme of the limb buds by E11.0
|
renal/urinary system
• failure to induce condensation of the metanephric mesenchyme
|
• massive cell death is seen in the metanephric mesenchyme by E11.0
|
absent kidney
(
J:90991
)
• bilateral renal agenesis is seen at birth; however, gonads and adrenal glands develop normally
• the kidney phenotype is fully penetrant on a 129S or CD1 background
|
absent ureter
(
J:90991
)
• bilateral agenesis of the ureters is seen at birth
|
• the neonatal bladder is not filled
|
• the ureteric bud does not branch at E11.5
|
• initiation of ureteric bud growth is completely blocked
|
• invasion of the metanephric mesenchyme by the ureteric bud fails to occur
|
respiratory system
• the airway epithelium remains multi-layered unlike in wild-type embryos
|
• the number of differentiated alveoli are reduced
|
• neonatal dyspnea
|
skeleton
• the ulna and radius fuse during the onset of ossification
• only one skeletal element forms in hind limbs
|
• metacarpal fusions are seen
|
embryo
• massive cell death is seen in the metanephric mesenchyme by E11.0
|
• the apical ectodermal ridge morphology is disrupted
|
• massive cell death is seen in the core mesenchyme of the limb buds by E11.0
|