Col17a1^tm1Tiin
Targeted Allele Detail

Summary

• Symbol: Col17a1^tm1Tiin
• Name: collagen, type XVII, alpha 1; targeted mutation 1, Tiina Hurskainen
• MGI ID: MGI:5621004
• Synonyms: deltaNC14A
• Gene: Col17a1 Location: Chr19:47634783-47680460 bp, - strand Genetic Position: Chr19, 40.07 cM
• Alliance: Col17a1^tm1Tiin page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:219481
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exon 18 and surrounding intronic sequences were replaced with a neomycin resistance cassette. In addition to the deletion, a 498 bp insert was detected in the transcript. The insertion results in a stop codon after the open reading frame of 89 bp. Western blot analysis confirmed the absence of protein expression in keratinocytes. (J:219481)

Expression

In Structures Affected by this Mutation:

8 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 Col17a1 Mutation: 49 strains or lines available

Notes

Phenotypic Similarity to Human Syndrome: Bullous Pemphigoid J:220622.

References

• Original: J:219481 Hurskainen T, et al., Transmembrane collagen XVII is a novel component of the glomerular filtration barrier. Cell Tissue Res. 2012 Jun;348(3):579-88
• All: 3 reference(s)