Analysis Tools
limbs/digits/tail
|
• hyperemic footpads and ears
|
hearing/vestibular/ear
|
• the auricular cartilage is severely distorted due to contracture from scarring
|
|
• in the pinna
|
immune system
|
• in the pinna
|
skeleton
|
• substantial pitting by SEM
|
enamel pits
(
J:158873
)
|
• substantial pitting in incisors by SEM
|
|
• the auricular cartilage is severely distorted due to contracture from scarring
|
|
• at 12 months of age, as mice develop skin lesions
|
|
• at 12 months of age, as mice develop skin lesions
|
craniofacial
|
• substantial pitting by SEM
|
enamel pits
(
J:158873
)
|
• substantial pitting in incisors by SEM
|
|
• the auricular cartilage is severely distorted due to contracture from scarring
|
respiratory system
|
• decrease in resistance and/or elastance and overall lung restriction at 9 months of age
|
|
• decrease in resistance and/or elastance and overall lung restriction at 9 months of age
|
|
• dyspneic
|
integument
|
• rudimentary or absent hemidesmosomes in the skin by TEM
|
|
• on ears and foot pads
|
acanthosis
(
J:158873
)
|
• on ears
|
|
• on ears
|
|
• dermal-epidermal separation in skin on the ears and tail
|
blistering
(
J:158873
)
|
• subepidermal separation on tail and foot pads, with little to no dermal inflammation present
|
reddish skin
(
J:158873
)
|
• hyperemic footpads, tail and ears
|
|
• dermal epidermal separation is adjacent to ulcerations in the dorsal thoracic skin
• subepidermal separation on tail and foot pads, with little to no dermal inflammation present
|
|
• ulcerated ears and tail
|
|
• marked mechanical fragility of the skin
|
growth/size/body
|
• substantial pitting by SEM
|
enamel pits
(
J:158873
)
|
• substantial pitting in incisors by SEM
|
|
• the auricular cartilage is severely distorted due to contracture from scarring
|
cellular
|
• separation within the lamina lucida
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| junctional epidermolysis bullosa non-Herlitz type | DOID:0060738 |
OMIM:226650 |
J:158873 | |
