Phenotypes Associated with This Genotype

Genotype
MGI:3720802

• Allelic Composition: Col1a2^oim/Col1a2^oim
• Genetic Background: B6C3Fe a/a-Col1a2^oim/J

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

skeleton

abnormal tendon morphology ( J:124000 )

• higher than normal denaturation temperature of the tail tendon

abnormal compact bone morphology ( J:38013 )

• cortical bone appears disorganized, very cellular, and highly vascularized

abnormal compact bone lamellar structure ( J:38013 )

• exhibit very little lamellar structure

decreased bone strength ( J:38013 )

• femurs have reduced biomechanical properties in bending

• male and female femurs have a 67% and 60% reduction in maximum load, respectively

• both male and female femurs have a 79% reduction in energy to failure compared to wild-type

• male and female femurs have a 64% and 40% reduction in stiffness, respectively

muscle

abnormal tendon morphology ( J:124000 )

• higher than normal denaturation temperature of the tail tendon

cellular

cellular phenotype ( J:124000 )

N • normal hydroxylation of lysine in skin and tendon

integument

abnormal skin morphology ( J:124000 )

• thermogram assessment shows a 2.3 degree increase in skin denaturation temperature

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
osteogenesis imperfecta type 3		DOID:0110339	OMIM:259420	J:38013