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Phenotypes Associated with This Genotype
Genotype
MGI:3687246
Allelic
Composition
Col5a1tm1Rjw/Col5a1+
Genetic
Background
either: (involves: 129S6/SvEvTac) or (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

Abnormal collagen fibrils in the deep dermis of 12 week old Col5a1tm1Rjw/Col5a1+ mice

integument
• 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)
type I Ehlers-Danlos syndrome DOID:14720 OMIM:130000
J:113133


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
08/13/2019
MGI 6.14
The Jackson Laboratory