This transgene consists of the ubiquitous CAG promoter followed by a floxed chloramphenicol acetyltransferase (cat) gene and a mutant murine Dcn cDNA with a single base pair deletion at position 952 (delT) resulting in a frameshift mutation and truncation of the C terminal 33 amino acids. The mutation at position 952 in the mouse gene is comparable to the mutation in position 967 in the human gene seen in patients with congenital stromal corneal dystrophy. Cre mediated recombination results in expression of the mutant mouse cDNA. (J:177392)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
Not Specified
--
Insertion
--
1
--
2

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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Phenotypes

References Literature

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PMID
Journal
Year
IF
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