Phenotypes Associated with This Genotype

Genotype
MGI:3620112

• Allelic Composition: Col1a1^Mov13/Col1a1⁺
• Genetic Background: involves: C57BL/6

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

hearing/vestibular/ear

increased susceptibility to age-related hearing loss ( J:107045 )

• profound and progressive hearing loss with age

impaired hearing ( J:107045 )

• profound and progressive hearing loss with age

skeleton

abnormal compact bone morphology ( J:107045 )

• modulus of elasticity of cortical bone is lower

abnormal compact bone lamellar structure ( J:107045 )

• disorganized cortical bone, with bone cells not organized in a normal osteonal pattern and diorganization of collagen within the cortex

fragile skeleton ( J:107045 )

• exhibit a significant difference in the load deformation response of bones at failure, indicating brittle and fragile bones, however stiffness is normal

• modulus of elasticity of cortical bone is lower

integument

abnormal dermal layer morphology ( J:107045 )

• dermis contains unusually thin collagen fibers and collagen content in the dermis is reduced by about 50%

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
osteogenesis imperfecta type 1		DOID:0110334	OMIM:166200	J:107045