Mouse Genome Informatics
hm1
    Col1a1Mov13/Col1a1Mov13
C57BL/6-Col1a1Mov13
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
skeleton
• bone formation is initiated in two embryos that survive to E16, however bone development is retarded and does not progress to later stages of endochondrial ossification
• bone development and extent of ossification is markedly reduced when prospective bone-forming regions (parts of the lower jaw or central portion of the limbs of E12.5-13.5 embryos) are transplanted under the kidney capsule of adult wild-type hosts or onto chorioallantoic membrane of 8 day chick embryos


Mouse Genome Informatics
hm2
    Col1a1Mov13/Col1a1Mov13
involves: C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• most homozygous embryos are degenerated and bloodless at E13 - E14 with none seen at E15

embryogenesis
• embryos stop developing at E11.5 - E12


Mouse Genome Informatics
ht3
    Col1a1Mov13/Col1a1+
C57BL/6-Col1a1Mov13
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• between 6-8 weeks of age, many single, interspersed hairs turn white, indicating premature hair color change

integument
• between 6-8 weeks of age, many single, interspersed hairs turn white, indicating premature hair color change


Mouse Genome Informatics
ht4
    Col1a1Mov13/Col1a1+
involves: C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 IDRef(s)
Osteogenesis Imperfecta, Type I 166200 J:107045