Col7a1^em2Kepa
Endonuclease-mediated Allele Detail

Summary

• Symbol: Col7a1^em2Kepa
• Name: collagen, type VII, alpha 1; endonuclease-mediated mutation 2, Ken Pang
• MGI ID: MGI:6367982
• Synonyms: Col7a1^G2028R
• Gene: Col7a1 Location: Chr9:108782654-108813943 bp, + strand Genetic Position: Chr9, 59.63 cM
• Alliance: Col7a1^em2Kepa page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR-targeting substituted GGG to CGT resulting in the amino acid substitution of arginine for glycine at position 2028 in exon 73. (J:342863)

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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 Col7a1 Mutation: 106 strains or lines available

References

• Original: J:342863 Smith BRC, et al., Mouse models for dominant dystrophic epidermolysis bullosa carrying common human point mutations recapitulate the human disease. Dis Model Mech. 2021 Jun 1;14(6):dmm048082
• All: 1 reference(s)