Phenotypes Associated with This Genotype

Genotype
MGI:3687246

• Allelic Composition: Col5a1^tm1Rjw/Col5a1⁺
• Genetic Background: either: (involves: 129S6/SvEvTac) or (involves: 129S6/SvEvTac * C57BL/6)

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

Abnormal collagen fibrils in the deep dermis of 12 week old Col5a1^tm1Rjw/Col5a1⁺ mice

integument

abnormal cutaneous collagen fibril morphology ( J:113133 )

• exhibit a 50% reduction in collagen fibril number and dermal collagen content

• dermis is characterized by large numbers of structurally aberrant collagen fibrils that are larger and have irregular contour

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Ehlers-Danlos syndrome classic type 1		DOID:14720	OMIM:130000	J:113133