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| Nomenclature |
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Symbol:
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Col3a1m1Lsmi
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Name:
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collagen, type III, alpha 1;
mutation 1, Lee Smith
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MGI ID: |
MGI:5306912 |
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Synonyms: |
Col3a1delta |
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Gene:
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Col3a1
Location:
Chr1:45311538-45349706 bp, + strand
Genetic Position: Chr1,
23.67 cM
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Mutation
origin |
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Strain of Origin:
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129P2/OlaHsd and C57BL/6J
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Intergenic deletion |
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The 185 kb deletion encompasses the first 38 exons. (J:180733)
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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 Col3a1 Mutation:
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4 strains or lines available |
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Notes |
Isolated from ES cells targeted to produce Mrotm1H.
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| References |
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Original: |
J:180733
Smith LB et al.,
"Haploinsufficiency of the murine Col3a1 locus causes aortic dissection: a novel model of the vascular type of Ehlers-Danlos syndrome."
Cardiovasc Res 2011 Apr 1;90(1):182-90
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All: |
2 reference(s)
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Analysis Tools
