Phenotype Image Detail

Image

Caption

A-D: High-resolution digital radiography in 2 planes of the extremities of wild-type (Col7a1^WT/WT) (A) and Col7a1^tm1Lbt/Col7a1^tm1Lbt (Col7a1^flNeo/flNeo) (B and C) as well as the right hand of a recessive dystrophic epidermolysis bullosa (RDEB) patient, demonstrating severe mitten deformity (D). Mutant mice are shown both mildly (B) and strongly (C) affected. Top panels, anterior-posterior; bottom panels, lateral. Note the reduced mineral content of the long bones in the extremities of the mice demonstrated by increased X-ray transparency. (E-G) Corresponding high-resolution MRI in sagittal (top panels), transversal (middle panels), and coronal (bottom panels) orientation in mildly (F) and strongly affected (G) mutant mice as well as wild-type mice (E) revealed the extent of deformities and thickening of the soft tissues. Scale bars: 1 mm (A-C and E-G); 20 mm (D).

Copyright

This image is from Fritsch A, J Clin Invest 2008 May;118(5):1669-79 and is displayed with the permission of the American Society for Clinical Investigation who owns the Copyright. J:136145

Associated Alleles

Symbol	Name
Col7a1^tm1Lbt	collagen, type VII, alpha 1; targeted mutation 1, Leena Bruckner-Tuderman

Associated Genotypes

Allelic Composition	Genetic Background
Col7a1^tm1Lbt/Col7a1^tm1Lbt	involves: 129S1/Sv * 129X1/SvJ * C57BL/6Crl