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The human promoter was used to drive epidermis-specific expression of the human cDNA with the c.7528delG mutation. This mutation creates a premature stop codon 18 bp downstream of the end of the collagenous domain. Several lines were created with most robust expressing line was selected as the representative line. No line numbers given. (J:155326)
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
