Phenotypes Associated with This Genotype

Genotype
MGI:7708004

• Allelic Composition: Col17a1^em2Dcr/Col17a1^em2Dcr; Lamc2^jeb/Lamc2^jeb
• Genetic Background: C57BL/6J-Col17a1^em2Dcr/Dcr

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

integument

abnormal nail bed morphology ( J:352187 )

• separation in the nail bed is found in the double homozygote and requires both alleles

nail dystrophy ( J:352187 )

abnormal skin morphology ( J:352187 )

• The junctional epidermolysis bullosa phenotype of the jeb mutation has an earlier onset and more severe phenotype in addition to the novel phenotype of separation of the nail bed, which is not seen in either homozygote in the absence of the other mutation so is unique to the bigenic genotype

dermal-epidermal separation ( J:352187 )

blistering ( J:352187 )

skin detachment ( J:352187 )

decreased skin tensile strength ( J:352187 )

hearing/vestibular/ear

ear inflammation ( J:352187 )

mortality/aging

premature death ( J:352187 )

• death by 6 weeks of age

immune system

ear inflammation ( J:352187 )

limbs/digits/tail

ulcerated autopod ( J:352187 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
junctional epidermolysis bullosa		DOID:3209		J:352187