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Col5a1tm2.1Rjw
Targeted Allele Detail
Summary
Symbol: Col5a1tm2.1Rjw
Name: collagen, type V, alpha 1; targeted mutation 2.1, Richard J Wenstrup
MGI ID: MGI:5644153
Synonyms: Col5a1flox
Gene: Col5a1  Location: Chr2:27776437-27929526 bp, + strand  Genetic Position: Chr2, 19.38 cM, cytoband A2-B
Alliance: Col5a1tm2.1Rjw page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:221469
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129
Mutation
description
Allele Type:    Targeted (Not Applicable)
Mutation:    Insertion
 
Mutation detailsA loxP site was inserted upstream of exon 3. An FRT-flanked neomycin resistance cassette with a 3' loxP site was inserted downstream of exon 4. Flp-mediated recombination removed the selection cassette and left exons 3 and 4 floxed. (J:221469)
Phenotypes
Key:
hm homozygous ht heterozygous tg involves transgenes phenotype observed
cn conditional genotype  cx complex: > 1 genome feature ot other: hemizygous, indeterminate,... N normal phenotype
Genotype/
Background:
Allelic Composition
Genetic Background
Cell Line(s)
involves: 129 * C57BL/6 * SJL
 
involves: 129 * C57BL/6 * FVB/N * SJL
 
Phenotypes:
Affected Systems
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growth/size/body
N
growth/size/body region phenotype
N
vision/eye
abnormal cornea stroma morphology
decreased cornea stroma thickness
abnormal cornea anterior stroma morphology
abnormal cornea posterior stroma morphology
abnormal cornea stroma collagen fibril morphology
cornea opacity
increased corneal light-scattering
normal phenotype
no abnormal phenotype detected
View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 4 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 Col5a1 Mutation:  66 strains or lines available
References
Original:  J:221469 Sun M, et al., Collagen V is a dominant regulator of collagen fibrillogenesis: dysfunctional regulation of structure and function in a corneal-stroma-specific Col5a1-null mouse model. J Cell Sci. 2011 Dec 1;124(Pt 23):4096-105
All:  5 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
12/17/2024
MGI 6.24
The Jackson Laboratory