Analysis Tools
mortality/aging
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• following 10 backcrosses onto the C57BL/6J strain, only 15% of homozygotes are obtained from intercrosses of heterozygous mice at P10; however, no neonatal lethality is observed, suggesting partial embryonic lethality (stage not specified)
• Background Sensitivity: on a hybrid 129 x C57BL/6J genetic background, intercrosses of heterozygotes yield homozygotes in normal Mendelian ratios at P10
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growth/size/body
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• surviving mice are externally normal but weigh significantly less than wild-type littermates at 3-, 6-, and 8 weeks of age
• however, body weight is normal in both sexes at 1 week of age
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integument
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• surviving mice exhibit stiff skin, as determined by reduced stretchiness when mice are scruffed
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vision/eye
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• ocular zonule fibers are thicker, showing consistently stronger oxytalan staining at 8 days, 6 weeks and 6 months of age
• fibrillin-2 immunostaining is increased in the zonule at 8 days, 6 weeks, and 1 year of age, whereas fibrillin-1 staining is reduced in the zonule at 6 weeks but not at 1 year of age
• however, the ocular zonule appears intact and no ectopia lentis is observed, most likely because the mouse zonule contains fibrillin-2 in addition to fibrillin-1
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• OCT indicates a significant reduction in anterior chamber depth at 3- and 6 weeks of age
• however, eyes appear externally normal during the first 2 years of life; slit lamp examination reveals no anomalies in the cornea, iris or lens while H&E staining indicates normal cornea, ciliary body, and retina histology
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• eyes show persistent fibrillin-2 staining in the vitreous in the presumed remnants of the hyaloid vessel matrix both at 8 days and at 24 days after birth, but no detectable change in fibrillin-1 staining
• DAPI staining shows no intravitreal nuclei at 24 days of age, indicating persistence of microfibrils rather than persistence of the hyaloid vasculature
• further biochemical analysis identified fibrillin-2 as a novel ADAMTS10 substrate, providing an explanation for the persistence of ocular fibrillin-2 microfibrils
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respiratory system
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• adult lungs show a distinct but subtle anomaly characterized by increased alveolarization of the alveolar ducts
• however, no significant change in mean linear intercept analysis of lung parenchyma is observed
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cellular
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• in a collagen gel contraction assay, isolated dermal fibroblasts contract the gel to a greater extent than wild-type cells
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limbs/digits/tail
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• males show a significant increase in ulna length relative to wild-type controls
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long femur
(
J:275665
)
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• females show a significant increase in femur length relative to wild-type controls
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skeleton
| N |
• adult mice exhibit largely normal skeletal morphology and growth in the appendicular skeleton; distal forelimbs and hindlimbs show no brachydactyly
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• males show a significant increase in ulna length relative to wild-type controls
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long femur
(
J:275665
)
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• females show a significant increase in femur length relative to wild-type controls
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cardiovascular system
| N |
• mice show normal aortic and mitral valves and cardiac function up to 1 year of age, as determined by echocardiography and histology
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