A hypomorphic mouse model of dystrophic epidermolysis bullosa reveals mechanisms of disease and response to fibroblast therapy
J. Clin. Invest. Anja Fritsch, et al. 118:1669 doi:10.1172/JCI34292 [
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Figure 1Homozygous
Col7a1flNeo mice develop blisters early after birth.
(
A) An 11-kb genomic fragment of
Col7a1 was replaced by the targeting construct, flanking exon 2 (E2) with 2 loxP sites (black triangles). Additionally, the Neo cassette (gray box) was introduced downstream of exon 2, with 2 Frt sites (gray ovals) allowing Flp-mediated removal of the cassette. Right-facing thick black arrows indicate the promoter of
Col7a1 and PGK-Neo. (
B) Genotyping of the
Col7a1flNeo/flNeo mice was performed by PCR detecting the presence of the 5′ loxP site, with amplicons of 269 nt for the WT allele and 435 nt for the transgenic allele. The percentages of the genotypes generated are in accordance with normal Mendelian inheritance (χ
2 = 2.12;
P = 0.34). (
C) Hemorrhagic blisters were visible within 24 h of birth in the paws of
Col7a1flNeo/flNeo mice.
