Allele/Variant

Tg(CAG-ELN*)2Zu

Species
Mus musculus
Symbol
Tg(CAG-ELN*)2Zu
Category
allele
Allele of gene
None
Transgenic Constructs
Synonyms
  • CL mice
Description
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.
Additional Information
Literature

Transgenic Constructs

This allele contains 1 transgenic construct
Symbol
Expressed Components
Knock-down Targets
None
Regulatory Regions
None
All alleles with this construct

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
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    Disease Associations

    Association
    Disease Qualifier
    Disease
    Annotation details
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