Phenotypes associated with this allele

• Allele Symbol: Col17a1^em2Dcr
• Allele Name: endonuclease-mediated mutation 2, Derry Roopenian
• Allele ID: MGI:5527447
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Col17a1^em2Dcr/Col17a1^em2Dcr	C57BL/6J-Col17a1^em2Dcr/Dcr	MGI:7708001
cx2	Col17a1^em2Dcr/Col17a1^em2Dcr Lamc2^jeb/Lamc2^jeb	C57BL/6J-Col17a1^em2Dcr/Dcr	MGI:7708004
cx3	Col17a1^em2Dcr/Col17a1^+ Lamc2^jeb/Lamc2^jeb	C57BL/6J-Col17a1^em2Dcr/Dcr	MGI:7709535

Genotype
MGI:7708001

hm1

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

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

integument

spontaneous skin ulceration ( J:352187 )

• approximately half of hom at 42-44 weeks occasional mild ulcers and lesions unlike epidermolysis bullosa but similar to the alopecia and dermatitis of C57BL/6J.

Genotype
MGI:7708004

cx2

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

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

Genotype
MGI:7709535

cx3

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

integument

dermal-epidermal separation ( J:352187 )

• A single copy of this intragenic deletion in Col17a1 gives an intermediate phenotype between double homozygotes and mice homozygous for only the junctional epidermolysis bullosa mutation