mortality/aging
• homozygous null mice failed to thrive and died 2-3 days after birth
|
craniofacial
• in mutant incisors, enamel deposition was abnormal, and the enamel edge appeared frayed relative to wild-type
• the mutant enamel epithelium appeared disorganized and hypoplastic
|
• mutant mice showed normal incisor development until the onset of enamel secretion
• at the onset of enamel secretion in region II, the ameloblasts of mutant incisors appeared shorter and undulated
• relative to wild-type, mutant ameloblasts continued to remain smaller throughout subsequent differentiation
|
digestive/alimentary system
small stomach
(
J:55865
)
• mutant mice displayed a reduced stomach size and milk content; however, no gastric obstruction was observed
|
growth/size/body
• in mutant incisors, enamel deposition was abnormal, and the enamel edge appeared frayed relative to wild-type
• the mutant enamel epithelium appeared disorganized and hypoplastic
|
• mutant mice showed normal incisor development until the onset of enamel secretion
• at the onset of enamel secretion in region II, the ameloblasts of mutant incisors appeared shorter and undulated
• relative to wild-type, mutant ameloblasts continued to remain smaller throughout subsequent differentiation
|
• mutant mice weighed 40-50% less than wild-type littermates
|
integument
• in mutant skin, junctional blisters were caused by a separation at the dermal-epidermal junction
|
• basal cells appeared flattened and sparse
• electron microscopy revealed a complete absence of hemidesmosomes in some regions of the basal cells; hemidesmosomes appeared more diffuse and less well-defined
|
• in lesional areas, cell clusters in the superbasal cell layer appeared to remain undifferentiated
|
blistering
(
J:55865
)
• after birth (~6-8 h), mutant mice developed progressive blistering of the forepaws, limbs, and oral mucosa
• mutant limbs and paws appeared red and bleeding, even in the absence of blistering lesions
|
skeleton
• in mutant incisors, enamel deposition was abnormal, and the enamel edge appeared frayed relative to wild-type
• the mutant enamel epithelium appeared disorganized and hypoplastic
|
• mutant mice showed normal incisor development until the onset of enamel secretion
• at the onset of enamel secretion in region II, the ameloblasts of mutant incisors appeared shorter and undulated
• relative to wild-type, mutant ameloblasts continued to remain smaller throughout subsequent differentiation
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
junctional epidermolysis bullosa non-Herlitz type | DOID:0060738 |
OMIM:226650 |
J:55865 |