Phenotypes associated with this allele

• Allele Symbol: Col17a1^em1Dcr
• Allele Name: endonuclease-mediated mutation 1, Derry Roopenian
• Allele ID: MGI:5504432
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Col17a1^em1Dcr/Col17a1^em1Dcr	C57BL/6J-Col17a1^em1Dcr/DcrJ	MGI:7707964
cx2	Col17a1^em1Dcr/Col17a1^em1Dcr Lamc2^jeb/Lamc2^jeb	B6.Cg-Lamc2^jeb Col17a1^em1Dcr/Dcr	MGI:7708015
cx3	Col17a1^em1Dcr/Col17a1^+ Lamc2^jeb/Lamc2^jeb	B6.Cg-Lamc2^jeb Col17a1^em1Dcr/Dcr	MGI:7709532

Genotype
MGI:7707964

hm1

• Allelic Composition: Col17a1^em1Dcr/Col17a1^em1Dcr
• Genetic Background: C57BL/6J-Col17a1^em1Dcr/DcrJ

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

integument

integument phenotype ( J:352187 )

N • homozygotes are viable, fertile, and have no alteration in skin fragility, as tested by a tension test, at 10 and 43-53 weeks of age, and no blisters or erosions in ear or tail

Genotype
MGI:7708015

cx2

• Allelic Composition: Col17a1^em1Dcr/Col17a1^em1Dcr; Lamc2^jeb/Lamc2^jeb
• Genetic Background: B6.Cg-Lamc2^jeb Col17a1^em1Dcr/Dcr

mortality/aging

premature death ( J:352187 )

• the majority of double homozygotes are dead by 10 weeks of age

integument

abnormal nail bed morphology ( J:352187 )

nail dystrophy ( J:352187 )

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

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 )

immune system

ear inflammation ( J:352187 )

limbs/digits/tail

ulcerated autopod ( J:352187 )

hearing/vestibular/ear

ear inflammation ( J:352187 )

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

Genotype
MGI:7709532

cx3

• Allelic Composition: Col17a1^em1Dcr/Col17a1⁺; Lamc2^jeb/Lamc2^jeb
• Genetic Background: B6.Cg-Lamc2^jeb Col17a1^em1Dcr/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