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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)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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References Literature
Title
PMID
Journal
Year
IF
