All Phenotypes Col17a1<em8Dcr> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Col17a1^em8Dcr
endonuclease-mediated mutation 8, Derry Roopenian
MGI:5527462

Summary

2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Col17a1^em8Dcr/Col17a1^em8Dcr	C57BL/6J-Col17a1^em8Dcr/DcrJ	MGI:7709410
cx2	Col17a1^em8Dcr/Col17a1⁺ Lamc2^jeb/Lamc2^jeb	B6.Cg-Lamc2^jeb Col17a1^em8Dcr/Dcr	MGI:7709432

Allelic Composition	Col17a1^em8Dcr/Col17a1^em8Dcr
Genetic Background	C57BL/6J-Col17a1^em8Dcr/DcrJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col17a1^em8Dcr mutation (1 available); any Col17a1 mutation (51 available)

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

mortality/aging

premature death ( J:352187 )

• smaller and less healthy by 5 days of age and nearly all die by 17 days of age with just a few living longer

vision/eye

abnormal cornea morphology ( J:352187 )

integument

abnormal nail bed morphology ( J:352187 )

• nail bed separation

dermal-epidermal separation ( J:352187 )

• extensive. observed in tongue, tail, ear, cornea, feet, and disruptions in the nail bed

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

Allelic Composition	Col17a1^em8Dcr/Col17a1⁺ Lamc2^jeb/Lamc2^jeb
Genetic Background	B6.Cg-Lamc2^jeb Col17a1^em8Dcr/Dcr

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col17a1^em8Dcr mutation (1 available); any Col17a1 mutation (51 available)
Lamc2^jeb mutation (4 available); any Lamc2 mutation (70 available)

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

integument

dermal-epidermal separation ( J:352187 )

decreased skin tensile strength ( J:352187 )

• disease onset is faster and more severe in the presence of one null allele of Col17a1

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

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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