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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Col5a2tm1.2Dgr
targeted mutation 1.2, David S Greenspan
MGI:5817900
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Col5a2tm1.2Dgr/Col5a2tm1.2Dgr involves: 129S7/SvEvBrd * C57BL/6 * DBA/2 MGI:5817902
ht2
Col5a2tm1.2Dgr/Col5a2+ involves: 129S7/SvEvBrd * C57BL/6 * DBA/2 MGI:5817903


Genotype
MGI:5817902
hm1
Allelic
Composition
Col5a2tm1.2Dgr/Col5a2tm1.2Dgr
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6 * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col5a2tm1.2Dgr mutation (0 available); any Col5a2 mutation (65 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• lack of heart beat in some embryos at E11.5 and death at E12 to E12.5

integument
• 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
• embryos develop pallor at E11.5

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




Genotype
MGI:5817903
ht2
Allelic
Composition
Col5a2tm1.2Dgr/Col5a2+
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6 * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col5a2tm1.2Dgr mutation (0 available); any Col5a2 mutation (65 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• 51% reduction of tensile strength (breaking strength) and a 59% reduction of elastic modulus (stiffness) of the ascending aortas

integument
• 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
• skin exhibits increased extensibility at high strain, but not low strain, at 15 weeks of age indicating reduced skin stiffness
• 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





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory