Col7a1^tm1Uit
Targeted Allele Detail

Summary

• Symbol: Col7a1^tm1Uit
• Name: collagen, type VII, alpha 1; targeted mutation 1, Jouni Uitto
• MGI ID: MGI:2154650
• Synonyms: COL7^m-
• Gene: Col7a1 Location: Chr9:108782654-108813943 bp, + strand Genetic Position: Chr9, 59.63 cM
• Alliance: Col7a1^tm1Uit page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:58533
• Parent Cell Line: W9.5/W95 (ES Cell)
• Strain of Origin: 129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A neomycin resistance cassette replaced a 5kb genomic fragment containing exons 46 to 69. These exons encode the central collagenous domain 1. (J:58533)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
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: 107 strains or lines available

References

• Original: J:58533 Heinonen S, et al., Targeted inactivation of the type VII collagen gene (Col7a1) in mice results in severe blistering phenotype: a model for recessive dystrophic epidermolysis bullosa. J Cell Sci. 1999 Nov;112(Pt 21):3641-8
• All: 12 reference(s)