Phenotypes Associated with This Genotype

Genotype
MGI:5431996

• Allelic Composition: Col1a1^Aga2/Col1a1⁺
• Genetic Background: C3HeB/FeJ-Col1a1^Aga2

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:185988 )

• 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

abnormal blood vessel morphology ( J:185988 )

• in mice with a severe phenotype cardiac vessels have disordered cell arrangements and thinner walls

abnormal myocardium layer morphology ( J:185988 )

• mice with a severe phenotype display reduction in the amount of collagen and a disordered collagen matrix with fewer and thinner collagen fibrils

heart right ventricle hypertrophy ( J:185988 )

• in mice with a severe phenotype

abnormal heart septum morphology ( J:185988 )

• enlarged septa in mice with a severe phenotype

abnormal cardiovascular system physiology ( J:185988 )

• mice with a severe phenotype display a septal deformation with a convex bulge into the left ventricle during contraction

pulmonary alveolar hemorrhage ( J:185988 )

• in mice with a severe phenotype

decreased heart left ventricle muscle contractility ( J:185988 )

• left ventricular end-systolic internal diameter is increased resulting in a reduced ejection fraction in mice with a severe phenotype

abnormal heart electrocardiography waveform feature ( J:185988 )

• extended J-T interval in mice with a mild phenotype

increased QRS amplitude ( J:185988 )

• in mice with a mild phenotype

respiratory system

pulmonary alveolar hemorrhage ( J:185988 )

• in mice with a severe phenotype

lung inflammation ( J:185988 )

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

cellular

abnormal cell morphology ( J:185988 )

• 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

abnormal Golgi apparatus morphology ( J:185988 )

• in cardiac fibroblasts

abnormal endoplasmic reticulum morphology ( J:185988 )

• in cardiac fibroblasts from mice with a severe phenotype

growth/size/body

heart right ventricle hypertrophy ( J:185988 )

• in mice with a severe phenotype

decreased body weight ( J:185988 )

• 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 ( J:185988 )

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

homeostasis/metabolism

abnormal blood gas level ( J:185988 )

• 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

lung inflammation ( J:185988 )

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

muscle

abnormal myocardium layer morphology ( J:185988 )

• mice with a severe phenotype display reduction in the amount of collagen and a disordered collagen matrix with fewer and thinner collagen fibrils

heart right ventricle hypertrophy ( J:185988 )

• in mice with a severe phenotype

decreased heart left ventricle muscle contractility ( J:185988 )

• 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