Phenotypes Associated with This Genotype

Genotype
MGI:5882592

• Allelic Composition: Tg(Col1a1-Ifitm5*)1Brle/0
• Genetic Background: involves: FVB/N

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

mortality/aging

perinatal lethality, complete penetrance ( J:233366 )

• lethality at birth

limbs/digits/tail

abnormal limb morphology ( J:233366 )

• downward facing limbs at birth but do not show growth defects

• severe defects of the limbs, including in utero fractures, are seen at E18.5

abnormal tibia morphology ( J:233366 )

• tibia dysplasia is already seen at E15.5, although fractures are not seen

skeleton

abnormal skeleton morphology ( J:233366 )

• cellular morphology within the bones is more chondrocyte-like than in controls

abnormal tibia morphology ( J:233366 )

• tibia dysplasia is already seen at E15.5, although fractures are not seen

abnormal thoracic cage morphology ( J:233366 )

• severe ribcage deformity is seen at E18.5

abnormal skeleton development ( J:233366 )

• severe skeletal defects

increased long bone epiphyseal plate size ( J:233366 )

• growth plates appear to be extended by E15.5 with altered cellular morphology

decreased bone mineralization ( J:233366 )

• reduction in mineralization at E18.5

delayed bone mineralization ( J:233366 )

• delay in skeletal mineralization is apparent at E15.5

fragile skeleton ( J:233366 )

• in utero fractures of the forelimbs and hindlimbs at E18.5

• fractures of both the femur and tibia at E18.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
osteogenesis imperfecta type 5		DOID:0110344	OMIM:610967	J:233366