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Tg(CAG-ELN*)2Zu
Transgene Detail
Summary
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  
Alliance: Tg(CAG-ELN*)2Zu page
Transgene
origin
Strain of Origin:  C57BL/6J
Transgene
description
Transgene Type:    Transgenic (Humanized sequence, Inserted expressed sequence)
Mutation:    Insertion
 
Tg(CAG-ELN*)2Zu expresses 1 gene
 
Mutation detailsA 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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
References
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)

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
12/10/2024
MGI 6.24
The Jackson Laboratory