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Col17a1em8Dcr
Endonuclease-mediated Allele Detail
Summary
Symbol: Col17a1em8Dcr
Name: collagen, type XVII, alpha 1; endonuclease-mediated mutation 8, Derry Roopenian
MGI ID: MGI:5527462
Synonyms: TAL7-99
Gene: Col17a1  Location: Chr19:47634783-47680460 bp, - strand  Genetic Position: Chr19, 40.07 cM
Alliance: Col17a1em8Dcr page
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Endonuclease-mediated (Null/knockout)
Mutation:    Intragenic deletion
 
Mutation detailsThis TALEN-mediated allele has a 10 bp deletion GGGGGAACCA in the non-collagenous domain 4 encoded by exon 50. (J:352187)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 2 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain 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)

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
11/12/2024
MGI 6.24
The Jackson Laboratory