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| Nomenclature |
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Symbol:
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Tg(CAG-ELN*)60Zu
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Name:
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transgene insertion 60, Zsolt Urban
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MGI ID: |
MGI:4867517 |
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Synonyms: |
CL mice |
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Transgene:
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Tg(CAG-ELN*)60Zu
Location:
unknown
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Transgene
origin |
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Strain of Origin:
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C57BL/6J
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Transgene
description |
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Transgene
Type: | |
Transgenic (random, expressed) |
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Mutation: | |
Insertion |
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Mutation details: A cytomegalovirus immediate-early enhancer and a chicken beta actin promoter drive the expression of a mutant human elastin cDNA, an internal ribosomal entry site (IRES) and an EGFP cDNA. The mutation in human elastin is based on the major mRNA isoform in a family with autosomal dominant cutix laxa caused by a 25 base pair deletion, 2114_2138del, located in exon 30 of the elastin gene. This frameshift mutation, which is frequently subject to removal by normally occurring alternative splicing, results in the replacement of the C-terminus of tropoelastin by a missense peptide sequence of 81 amino acids. (J:166809)
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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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| References |
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Original: |
J:166809
Hu Q et al.,
"Mechanisms of emphysema in autosomal dominant cutis laxa."
Matrix Biol 2010 Sep;29(7):621-8
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All: |
1 reference(s)
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Analysis Tools
