Col17a1^em2Dcr
Endonuclease-mediated Allele Detail

Summary

• Symbol: Col17a1^em2Dcr
• Name: collagen, type XVII, alpha 1; endonuclease-mediated mutation 2, Derry Roopenian
• MGI ID: MGI:5527447
• Synonyms: del650, delta650, TAL7-02
• Gene: Col17a1 Location: Chr19:47634783-47680460 bp, - strand Genetic Position: Chr19, 40.07 cM
• Alliance: Col17a1^em2Dcr page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Hypomorph)
• Mutation: Intragenic deletion
• Mutation details: This TALEN mediated 650 bp deletion extending from intron 4849 to mid-exon 50, deletes 169 amino acids including most of non-collagenous domain 6 through partway into non-collagenous domain 3, and all of the domains between: collagenous 5, non-collagenous 5, collagenous 4, non-collagenous 4, and collagenous 3. (J:352187)

Disease models

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains 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)