Col17a1^em1Dcr
Endonuclease-mediated Allele Detail

Summary

• Symbol: Col17a1^em1Dcr
• Name: collagen, type XVII, alpha 1; endonuclease-mediated mutation 1, Derry Roopenian
• MGI ID: MGI:5504432
• Synonyms: del567, delta567
• Gene: Col17a1 Location: Chr19:47634783-47680460 bp, - strand Genetic Position: Chr19, 40.07 cM
• Alliance: Col17a1^em1Dcr page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Hypomorph)
• Mutation: Intragenic deletion
• Mutation details: This 567 bp deletion deletes exon 50 and 120 amino acids from partway into the non-collagenous domain 5 through partway into non-collagenous domain 3, and all of the domains between: collagenous 4, non-collagenous 4, and collagenous 3. (J:352187)
• Inheritance: Semidominant

Disease models

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Col17a1 Mutation: 51 strains or lines available

References

• Original: J:352187 Sproule TJ, et al., Functional analysis of Collagen 17a1: A genetic modifier of junctional epidermolysis bullosa in mice. PLoS One. 2023;18(10):e0292456
• All: 1 reference(s)