Phenotypes Associated with This Genotype

Genotype
MGI:5817903

• Allelic Composition: Col5a2^tm1.2Dgr/Col5a2⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * DBA/2

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

cardiovascular system

abnormal cardiovascular system physiology ( J:223298 )

• 51% reduction of tensile strength (breaking strength) and a 59% reduction of elastic modulus (stiffness) of the ascending aortas

integument

abnormal cutaneous collagen fibril morphology ( J:223298 )

• some collagen fibrils show irregular contours and a slight increase in fibril diameter in P50 skin with irregular fibril contour, but not increased fibril diameter, persisting at 15 weeks

abnormal skin physiology ( J:223298 )

• skin exhibits increased extensibility at high strain, but not low strain, at 15 weeks of age indicating reduced skin stiffness

decreased skin tensile strength ( J:223298 )

• tensile strength of skin is reduced about 48% compared to wild-type skin

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Ehlers-Danlos syndrome classic type 1		DOID:14720	OMIM:130000	J:223298