Phenotypes Associated with This Genotype

Genotype
MGI:6693506

• Allelic Composition: Adamts2^tm1Prc/Adamts2^tm1Prc
• Genetic Background: involves: 129 * 129S1/Sv * 129X1/SvJ * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:271185 )

N • at 6 weeks of age, trans-epidermal water loss is normal, suggesting that the epithelial barrier is functional

abnormal homeostasis ( J:271185 )

• analysis of the electrophoretic pattern of type I collagen extracted from skin revealed that 50 to 80% of type I collagen still retains the aminopropeptide (pNalpha1I, pNalpha2I), indicating residual amino-procollagen peptidase activity

• in tendon, alpha chains represent ~75% of total type I collagen content

• in cornea, alpha chains represent ~60% of total type I collagen content

• in bone, only fully processed alpha 1 and alpha 2 chains are identified, indicating normal type I procollagen processing

integument

integument phenotype ( J:271185 )

N • at 6 weeks of age, trans-epidermal water loss is normal, suggesting that the epithelial barrier is functional

ruffled hair ( J:271185 )

• at 3 weeks of age, mice are readily identified by a more ruffled fur appearance relative to wild-type controls and single Adamts14^{Gt(511E11)Cmhd} homozygotes

• however, newborn pups are overtly normal

abnormal cutaneous collagen fibril morphology ( J:271185 )

• in skin, the shape of collagen fibrils is highly heterogeneous and disrupted, ranging from fibrils with irregular contour to a ribbon-like structure, sometimes branched

decreased skin tensile strength ( J:271185 )

• when freshly excised skin strips are clamped into an Instron apparatus and stretched until rupture, tensile strength and % of elongation at rupture are significantly lower than those in wild-type controls

immune system

increased interferon-gamma secretion ( J:271185 )

reproductive system

male infertility ( J:271185 )

skeleton

abnormal tendon collagen fibril morphology ( J:271185 )

• some tendon collagen fibrils appear less rounded, esp. fibrils with small diameter or fibril tip

muscle

abnormal tendon collagen fibril morphology ( J:271185 )

• some tendon collagen fibrils appear less rounded, esp. fibrils with small diameter or fibril tip

vision/eye

vision/eye phenotype ( J:271185 )

N • despite an increased accumulation of pNalpha1I and pNalpha2I chains in the cornea, collagen fibers exhibit normal ultrastructure and organization