Phenotypes Associated with This Genotype

Genotype
MGI:2664353

• Allelic Composition: Col1a2^oim/Col1a2^oim
• Genetic Background: involves: C3H/HeJ * C57BL/6JLe

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

Radiograph comparison of wild type and Col1a2^oim/Col1a2^oim mice

growth/size/body

decreased body size ( J:4348 )

skeleton

abnormal caudal vertebrae morphology ( J:4348 )

• periodically noticeable breaks in the tail vertebrae

decreased tendon stiffness ( J:41509 )

• tendon collagen is less resistant to tensile stress than wild-type collagen indicating that tendons are weaker

abnormal long bone morphology ( J:4348 , J:31692 )

• exhibit visible breaks in the long bones of the legs (J:4348)

camptomelia ( J:4348 )

• bowing of the long bones

kyphosis ( J:4348 )

• older mice develop dorsal kyphosis

scoliosis ( J:4348 )

• in older mice

decreased bone mineral density ( J:4348 )

• generalized osteopenia

abnormal compact bone lamellar structure ( J:4348 )

• lack of normal lamellar organization of the cortical bone

decreased compact bone thickness ( J:4348 , J:31692 )

• femurs at 7 months of age show cortical thinning and an increase in the number or density of cortical osteocytes (J:4348)

increased osteocyte number ( J:4348 )

• increase in the number or density of cortical osteocytes

decreased bone trabecula number ( J:4348 )

• femurs at 7 months of age show fewer medullary trabeculae

abnormal joint morphology ( J:4348 )

• joint subluxation

abnormal knee joint morphology ( J:4348 )

• sclerosis around the knee joints

abnormal bone mineralization ( J:31692 )

• mineral crystals within cortical bone are thinner and less well aligned, probably contributing to the brittleness of bones

fragile skeleton ( J:4348 , J:31692 )

• homozygotes are born with bone fractures or develop them at an early age and mutants often show evidence of healed fractures (J:4348)

behavior/neurological

abnormal gait ( J:4348 )

• older animals develop an abnormal gait

cardiovascular system

hemorrhage ( J:4348 )

• hemorrhage into the joint cavities, sides of the body, or around the scapulas

limbs/digits/tail

abnormal forelimb morphology ( J:4348 )

• drooping wrist appearance due to subluxation on one or both forepaws

abnormal knee joint morphology ( J:4348 )

• sclerosis around the knee joints

camptomelia ( J:4348 )

• bowing of the long bones

abnormal caudal vertebrae morphology ( J:4348 )

• periodically noticeable breaks in the tail vertebrae

muscle

decreased tendon stiffness ( J:41509 )

• tendon collagen is less resistant to tensile stress than wild-type collagen indicating that tendons are weaker

integument

abnormal skin morphology ( J:4348 )

• fibroblasts in the skin contain greatly dilated cisternae of the rough endoplasmic reticulum

abnormal dermal layer morphology ( J:4348 )

• dermal fibroblasts exhibit a rounded morphology instead of the typical elongated shape

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
osteogenesis imperfecta type 3		DOID:0110339	OMIM:259420	J:4348