Phenotypes associated with this allele

• Allele Symbol: Col5a2^tm1.2Dgr
• Allele Name: targeted mutation 1.2, David S Greenspan
• Allele ID: MGI:5817900
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Col5a2^tm1.2Dgr/Col5a2^tm1.2Dgr	involves: 129S7/SvEvBrd * C57BL/6 * DBA/2	MGI:5817902
ht2	Col5a2^tm1.2Dgr/Col5a2^+	involves: 129S7/SvEvBrd * C57BL/6 * DBA/2	MGI:5817903

Genotype
MGI:5817902

hm1

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

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:223298 )

• lack of heart beat in some embryos at E11.5 and death at E12 to E12.5

integument

abnormal cutaneous collagen fibril morphology ( J:223298 )

• collagen fibrils have diameters about 50% larger than wild-type fibrils

• however, E10.5 embryos have similar numbers of collagen fibrils as wild-type embryos

pallor ( J:223298 )

• embryos develop pallor at E11.5

cardiovascular system

blood vessel congestion ( J:223298 )

• embryos show congestion of blood and an absence of clearly visible vasculature at E11.5

Genotype
MGI:5817903

ht2

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

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