Phenotypes Associated with This Genotype

Genotype
MGI:5308726

• Allelic Composition: Bgn^tm1Mfy/Y
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ

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

integument

integument phenotype ( J:91512 )

♂N • despite collagen fibril abnormalities no defect in skin tensile strength is detected

abnormal cutaneous collagen fibril morphology ( J:91512 )

♂ • marked variability of fibril diameter both between fibrils and along the length of a fibril

♂ • frequent occurrence of fibrils with irregular cross-sectional profiles

♂ • increase in average fibril diameter and range of diameters

thin dermal layer ( J:91512 )

♂

skeleton

abnormal tendon collagen fibril morphology ( J:91512 )

♂ • in the tail tendon collagen fibrils show a unimodal rather than bimodal frequency distribution resulting from a relative decrease in number of larger fibrils and a relative increase in number of smaller fibrils

♂ • in the tail tendon the fibril size range is increased and the average diameter of tendon collagen fibrils is reduced

abnormal bone collagen fibril morphology ( J:91512 )

♂ • both average collagen fibril diameter and fibril size range are increased

♂ • collagen fibrils have irregular cross-sectional profiles

muscle

abnormal tendon collagen fibril morphology ( J:91512 )

♂ • in the tail tendon collagen fibrils show a unimodal rather than bimodal frequency distribution resulting from a relative decrease in number of larger fibrils and a relative increase in number of smaller fibrils

♂ • in the tail tendon the fibril size range is increased and the average diameter of tendon collagen fibrils is reduced