Phenotypes associated with this allele

• Allele Symbol: Col5a1⁺
• Allele Name: wild type
• Allele ID: MGI:2430166
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Col5a1^em1Brle/Col5a1^+	C57BL/6-Col5a1^em1Brle	MGI:7314211
ht2	Col5a1^tm1Rjw/Col5a1^+	either: (involves: 129S6/SvEvTac) or (involves: 129S6/SvEvTac * C57BL/6)	MGI:3687246
ht3	Col5a1^tm1Rjw/Col5a1^+	involves: 129S6/SvEvTac * C57BL/6	MGI:3687258

Genotype
MGI:7314211

ht1

• 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

Genotype
MGI:3687246

ht2

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

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

Genotype
MGI:3687258

ht3

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

The dermis of Col5a1^tm1Rjw/Col5a1⁺ mice contains poorly organized and less densely packed fibers

cardiovascular system

abnormal aorta morphology ( J:112728 )

• ascending and descending aortas from 12-week old mutants exhibit decreased aortic stiffness and breaking strength

integument

abnormal skin morphology ( J:112728 )

• exhibit a 50% decrease in type V collagen content in skin

abnormal cutaneous collagen fibril morphology ( J:112728 )

• 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:112728 )

• dermis contains poorly organized and less densely fibers and contains a mixture of relatively normal symmetrical fibrils that are somewhat broader and larger in diameter and very large diameter and aberrant fibrils; the large aberrant fibrils contain no type V collagen

• exhibit a significant delay in dermal collagen accumulation between 4 and 8 weeks of age, however by 12 weeks the total quantity of dermal collagen is similar to wild-type

• dermis shows reduced density of dermal connective tissue

abnormal skin condition ( J:112728 )

• skin is hyperextensible compared to wild-type, but there is no skin redundancy

decreased skin tensile strength ( J:112728 )

• tensile strength of unwounded and wounded skin is reduced

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Ehlers-Danlos syndrome classic type 1		DOID:14720	OMIM:130000	J:112728 , J:326524