mortality/aging
• mice die within hours of birth due to respiratory failure, gastrointestional problems, and gross skin denuding
|
digestive/alimentary system
• mice exhibit separation of the epithelial-mesenchymal junctions in the tongue and esophagus unlike in wild-type mice
• mice exhibit epithelial degeneration unlike in wild-type mice
• outer layers detach and fuse through extracellular material to the opposing attached areas unlike in wild-type mice
|
• mice exhibit separation of the epithelial-mesenchymal junctions in the tongue and esophagus unlike in wild-type mice
• mice exhibit epithelial degeneration unlike in wild-type mice
• outer layers detach and fuse through extracellular material to the opposing attached areas unlike in wild-type mice
|
respiratory system
craniofacial
• mice exhibit separation of the epithelial-mesenchymal junctions in the tongue and esophagus unlike in wild-type mice
• mice exhibit epithelial degeneration unlike in wild-type mice
• outer layers detach and fuse through extracellular material to the opposing attached areas unlike in wild-type mice
|
integument
• cells within the layer are disorganized, detached from the basal lamina, and form pearls of cells with different-sized-nuclei and very little cytoplasm unlike in wild-type mice
• the innermost layer of the basal layer exhibit degeneration and hemidesmosomes are lost unlike in wild-type mice
|
• cells within the layer are disorganized, and pearls of cells with different-sized-nuclei and very little cytoplasm are present unlike in wild-type mice
|
• pearls of cells with different-sized-nuclei and very little cytoplasm are present unlike in wild-type mice
|
• mice exhibit separation of the dermo-epidermal junctions in the skin unlike in wild-type mice
|
blistering
(
J:77644
)
• blistering at birth is severe unlike in wild-type mice
• however, delivery by Cesarean section reduced blistering
|
• at E15.5 skin is fragile unlike in wild-type mice
• at birth large sections of skin peel from the body surface unlike in wild-type mice
|
• mitotic cells are observed in the suprabasal layer unlike in wild-type mice
• basal epidermal cells exhibit apoptosis unlike in wild-type mice
|
growth/size/body
• mice exhibit separation of the epithelial-mesenchymal junctions in the tongue and esophagus unlike in wild-type mice
• mice exhibit epithelial degeneration unlike in wild-type mice
• outer layers detach and fuse through extracellular material to the opposing attached areas unlike in wild-type mice
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
junctional epidermolysis bullosa non-Herlitz type | DOID:0060738 |
OMIM:226650 |
J:77644 |