Phenotypes associated with this allele

• Allele Symbol: Col1a2^oim
• Allele Name: osteogenesis imperfecta
• Allele ID: MGI:1856327
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Col1a2^oim/Col1a2^oim	B6C3Fe a/a-Col1a2^oim/J	MGI:3720802
hm2	Col1a2^oim/Col1a2^oim	involves: C3H/HeJ * C57BL/6JLe	MGI:2664353
ht3	Col1a2^oim/Col1a2^+	B6C3Fe a/a-Col1a2^oim/J	MGI:3720800

Genotype
MGI:3720802

hm1

• 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

Genotype
MGI:2664353

hm2

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

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

Genotype
MGI:3720800

ht3

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

skeleton

abnormal compact bone morphology ( J:38013 )

• cortical bone consists of areas of normal lamellar bone intermixed with hypercellular, highly vascularized bone, however cortical thickness is normal

decreased bone strength ( J:38013 )

• although heterozygotes do not exhibit fractures, they show reduced bone mechanical strength

• male and female femurs have a 21% and 18% reduction in maximum load, respectively

• male and female femurs have a 32% and 39% reduction in energy to failure, respectively, compared to wild-type

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
osteogenesis imperfecta		DOID:12347	OMIM:PS166200	J:38013