Phenotypes Associated with This Genotype

Genotype
MGI:4440827

• Allelic Composition: Lamc2^jeb/Lamc2^jeb
• Genetic Background: 129X1/SvJ-Lamc2^jeb

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

limbs/digits/tail

ulcerated autopod ( J:158873 )

• hyperemic footpads and ears

hearing/vestibular/ear

abnormal pinna cartilage morphology ( J:158873 )

• the auricular cartilage is severely distorted due to contracture from scarring

ear inflammation ( J:158873 )

• in the pinna

immune system

ear inflammation ( J:158873 )

• in the pinna

skeleton

abnormal incisor morphology ( J:158873 )

• substantial pitting by SEM

enamel pits ( J:158873 )

• substantial pitting in incisors by SEM

abnormal pinna cartilage morphology ( J:158873 )

• the auricular cartilage is severely distorted due to contracture from scarring

decreased bone mineral content ( J:158873 )

• at 12 months of age, as mice develop skin lesions

decreased bone mineral density ( J:158873 )

• at 12 months of age, as mice develop skin lesions

craniofacial

abnormal incisor morphology ( J:158873 )

• substantial pitting by SEM

enamel pits ( J:158873 )

• substantial pitting in incisors by SEM

abnormal pinna cartilage morphology ( J:158873 )

• the auricular cartilage is severely distorted due to contracture from scarring

respiratory system

decreased lung elastance ( J:158873 )

• decrease in resistance and/or elastance and overall lung restriction at 9 months of age

decreased airway resistance ( J:158873 )

• decrease in resistance and/or elastance and overall lung restriction at 9 months of age

respiratory distress ( J:158873 )

• dyspneic

integument

abnormal skin morphology ( J:158873 )

• rudimentary or absent hemidesmosomes in the skin by TEM

orthokeratosis ( J:158873 )

• on ears and foot pads

acanthosis ( J:158873 )

• on ears

epidermal hyperplasia ( J:158873 )

• on ears

dermal-epidermal separation ( J:158873 )

• 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

skin detachment ( J:158873 )

• 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

spontaneous skin ulceration ( J:158873 )

• ulcerated ears and tail

decreased skin tensile strength ( J:158873 )

• marked mechanical fragility of the skin

growth/size/body

abnormal incisor morphology ( J:158873 )

• substantial pitting by SEM

enamel pits ( J:158873 )

• substantial pitting in incisors by SEM

abnormal pinna cartilage morphology ( J:158873 )

• the auricular cartilage is severely distorted due to contracture from scarring

cellular

abnormal basal lamina morphology ( J:158873 )

• 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