Mouse Genome Informatics
involves: 129/Sv
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
• molars show a subtle loss of surface contour, however do not exhibit any other abnormalities in the appendicular, axial, or craniofacial skeleton
• apparent 2 months after birth
• at 2 months of age, mutant facies begin to look more triangular

reproductive system
• few, if any, active sperm are detected in semen (J:69141)
• significant reduction of mature sperm in testicular sections (J:69141)
• no vaginal plugs or pregnancies are observed following breeding of male homozygotes with fertile wild-type females (J:69141)

respiratory system
• lungs show distal air space distension at both 2 weeks and 2 months of age, indicating an emphysema-like appearance without inflammation or fibrosis

• at 2 months of age, the xiphoid is significantly concave and mineralized

• at 2 months of age, hair follicles look thinner
• collagen fibrils in skin are abnormally curled and reduced in thickness by ~50% at 2 months of age
• however, no defects in the structure of cartilage or collagen fibrils of cartilage are observed, eventhough a portion of N-propeptides of type II procollagen was not cleaved
• at 1-2 months of age, mutant skin feels thinner and softer and tears after handling; becomes more severe with age

Mouse Models of Human Disease
Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive 225410 J:69141