The transgene comprises the following elements: the human keratin 14 promoter up to the translation start site, human collagen type V alpha 1 cDNA, and KRT14 3' UTR sequence including poly(A) signal. The construct was microinjected into male pronuclei of fertilized oocytes. Immunoblots and RT-PCR confirmed this transgene drives the expression of COL5A1 in the epidermis. (J:189446)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count