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Phenotypes Associated with This Genotype
Genotype
MGI:5431996
Allelic
Composition
Col1a1Aga2/Col1a1+
Genetic
Background
C3HeB/FeJ-Col1a1Aga2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col1a1Aga2 mutation (1 available); any Col1a1 mutation (160 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice with a severe phenotype display postnatal lethality
• lethality is not rescued by bisphosphonate alendronate treatment
• mice with a mild phenotype survive to adulthood

cardiovascular system
• in mice with a severe phenotype cardiac vessels have disordered cell arrangements and thinner walls
• mice with a severe phenotype display reduction in the amount of collagen and a disordered collagen matrix with fewer and thinner collagen fibrils
• in mice with a severe phenotype
• enlarged septa in mice with a severe phenotype
• mice with a severe phenotype display a septal deformation with a convex bulge into the left ventricle during contraction
• in mice with a severe phenotype
• left ventricular end-systolic internal diameter is increased resulting in a reduced ejection fraction in mice with a severe phenotype
• extended J-T interval in mice with a mild phenotype
• in mice with a mild phenotype

respiratory system
• in mice with a severe phenotype
• infiltrates of polymorphonuclear neutrophils and alveolar macrophages in mice with a severe phenotype

cellular
• cardiac fibroblasts from mice with a severe phenotype show disordered cytoplasm and Golgi abnormalities
• cardiac fibroblasts from mice with a severe or mild phenotype show a strong or slight decrease in collagen staining, respectively
• marginal decrease in collagen in lung fibroblasts from mice with a severe phenotype
• in cardiac fibroblasts
• in cardiac fibroblasts from mice with a severe phenotype

growth/size/body
• in mice with a severe phenotype
• at 6-11 days of age in mice with a mild phenotype weight is 75% that of wild-type mice
• at 6-11 days of age in mice with a severe phenotype weight is 53% that of wild-type mice

skeleton
• rib fractures with callus formation are equally frequent in mice with severe or mild phenotypes

homeostasis/metabolism
• reduction of 44% in arterial pO2 and an increase of 40% in pCO2 accompanied by a 61% decrease in oxygen saturation in mice with a severe phenotype

immune system
• infiltrates of polymorphonuclear neutrophils and alveolar macrophages in mice with a severe phenotype

muscle
• mice with a severe phenotype display reduction in the amount of collagen and a disordered collagen matrix with fewer and thinner collagen fibrils
• in mice with a severe phenotype
• left ventricular end-systolic internal diameter is increased resulting in a reduced ejection fraction in mice with a severe phenotype

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
osteogenesis imperfecta type 3 DOID:0110339 OMIM:259420
J:185988


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
03/12/2024
MGI 6.23
The Jackson Laboratory