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Phenotypes Associated with This Genotype
Genotype
MGI:3620112
Allelic
Composition
Col1a1Mov13/Col1a1+
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col1a1Mov13 mutation (1 available); any Col1a1 mutation (88 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• profound and progressive hearing loss with age
• profound and progressive hearing loss with age

skeleton
• modulus of elasticity of cortical bone is lower
• disorganized cortical bone, with bone cells not organized in a normal osteonal pattern and diorganization of collagen within the cortex
• 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
• dermis contains unusually thin collagen fibers and collagen content in the dermis is reduced by about 50%

Mouse Models of Human Disease
OMIM ID Ref(s)
Osteogenesis Imperfecta, Type I; OI1 166200 J:107045


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory