Phenotypes Associated with This Genotype

Genotype
MGI:7314211

• Allelic Composition: Col5a1^em1Brle/Col5a1⁺
• Genetic Background: C57BL/6-Col5a1^em1Brle

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

integument

abnormal cutaneous collagen fibril morphology ( J:326524 )

• abnormal skin collagen fibers with large fibril size with irregular borders

• mice show alterations in type I collagen fiber composition in the dermis, but not the Achilles tendons, including a decrease in the beta1,2 dimers, cross-linked by an intramolecular aldol band and increase in gamma trimers, cross-linked by an intermolecular aldol bond

abnormal dermal layer morphology ( J:326524 )

• less organized dermis

thin dermal layer ( J:326524 )

decreased skin tensile strength ( J:326524 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Ehlers-Danlos syndrome classic type 1		DOID:14720	OMIM:130000	J:326524