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Phenotypes Associated with This Genotype
Genotype
MGI:3687258
Allelic
Composition
Col5a1tm1Rjw/Col5a1+
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col5a1tm1Rjw mutation (0 available); any Col5a1 mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

The dermis of Col5a1tm1Rjw/Col5a1+ mice contains poorly organized and less densely packed fibers

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

integument
• exhibit a 50% decrease in type V collagen content in skin
• 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
• skin is hyperextensible compared to wild-type, but there is no skin redundancy
• tensile strength of unwounded and wounded skin is reduced

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


Contributing Projects:
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
07/16/2019
MGI 6.14
The Jackson Laboratory