Phenotypes associated with this allele

• Allele Symbol: Col5a1^tm1Rjw
• Allele Name: targeted mutation 1, Richard J Wenstrup
• Allele ID: MGI:3664598
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Col5a1^tm1Rjw/Col5a1^tm1Rjw	either: (involves: 129S6/SvEvTac) or (involves: 129S6/SvEvTac * C57BL/6)	MGI:3687245
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:3687245

hm1

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

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

E10.5 Col5a1^tm1Rjw/Col5a1^tm1Rjw embryos exhibit blood pooling and absence of blood-filled vessels in yolk sacs

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:113133 )

• die at around E10-E11

embryo

abnormal visceral yolk sac morphology ( J:113133 )

• blood-filled vessels are not evident in yolk sacs

cardiovascular system

abnormal blood vessel morphology ( J:113133 )

• embryos exhibit less blood than controls

• frequently exhibit pooled blood even before the cessation of the rhythmic contractions of the heart

integument

abnormal cutaneous collagen fibril morphology ( J:113133 )

• lack virtually all collagen fibril formation in the predermal mesenchyme

• a small number of very large diameter fibrils that are misshapen and have irregular borders are seen the ectodermal basement membrane at the stromal interface

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