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| Nomenclature |
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Symbol:
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Col8a2tm1.1Asj
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Name:
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collagen, type VIII, alpha 2;
targeted mutation 1.1, Albert S Jun
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MGI ID: |
MGI:5305275 |
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Synonyms: |
Col8a2Q455K |
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Gene:
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Col8a2
Location:
Chr4:126286793-126314330 bp, + strand
Genetic Position: Chr4,
60.29 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:179022
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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Not Specified
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Single point mutation |
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Mutation details: A floxed pgk-neo cassette upstream of exon 4 and a C to A mutation in exon 4 resulting in a glutamine to lysine substitution at amino acid position 455 were introduced via homologous recombination. Cre mediated recombination removed the neo cassette. (J:179022)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Col8a2 Mutation:
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1 strain or line available |
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| References |
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Original: |
J:179022
Jun AS et al.,
"An alpha 2 collagen VIII transgenic knock-in mouse model of Fuchs endothelial corneal dystrophy shows early endothelial cell unfolded protein response and apoptosis."
Hum Mol Genet 2012 Jan 15;21(2):384-93
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All: |
1 reference(s)
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Analysis Tools
