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Col17a1tm1Tiin
Targeted Allele Detail
Summary
Symbol: Col17a1tm1Tiin
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: Col17a1tm1Tiin 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 detailsExon 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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:  51 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:  4 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory