Tg(CAG-ELN*)2Zu
Transgene Detail
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Symbol: |
Tg(CAG-ELN*)2Zu |
Name: |
transgene insertion 2, Zsolt Urban |
MGI ID: |
MGI:4867516 |
Synonyms: |
CL mice |
Transgene: |
Tg(CAG-ELN*)2Zu Location: unknown
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Alliance: |
Tg(CAG-ELN*)2Zu page
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Transgene Type: |
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Transgenic (Humanized sequence, Inserted expressed sequence) |
Mutation: |
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Insertion
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Tg(CAG-ELN*)2Zu expresses
1 gene
Transgene expresses:
Organism |
Expressed Gene |
Homolog in Mouse |
Note |
human |
ELN (2006) |
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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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View phenotypes and curated references for all genotypes (concatenated display).
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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
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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 |
All: |
1 reference(s) |
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