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- Description
- Phenotype
- Genes & alleles
- Genotyping
- Health & husbandry
- References
- Purchasing information
- Terms of Use
Description
Strain Information
Former Names B6C3Fe-a/a-Col1a2oim/+ (Changed: 15-DEC-04 ) Type Mutant Strain; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Mating System Outcross-Intercross (Female x Male) 01-MAR-06 TJL Breeding Summary: homozygote x B6C3Fe a/a F1 or B6C3Fe a/a F1 x homozygote then heterozygote x heterozygote Species laboratory mouse Generation N41F2 (19-NOV-09) Appearance
black, skeletal defects
Related Genotype: a/a Col1a2oim/Col1a2oim
black, normal outward appearance
Related Genotype: a/a +/? or a/a Col1a2oim/+Development
The mutation to osteogenesis imperfecta (oim) arose spontaneously in 1985 in the F2 generation of a C57BL/6J male bred with a C3H/HeJ-din ovarian transplant host which was itself a B6C3Fe-a/a F1 hybrid. In this F2 generation a pair of mice showing the abnormal leg development were mated and an affected offspring was outcrossed to a B6C3FeF1/J-a/a hybrid. The strain was subsequently maintained by cross-intercross, crossing a homozygote to a B6C3FeF1/J-a/a hybrid to maintain hybrid vigor then intercrossing the heterozygous offspring to produce affected homozygotes for the next cross to the F1 hybrid. In 1991 B6C3FeF1/J-a/a hybrid females were bred with N13 males homozygous for oim to generate embryos for cryopreservation.
Control Information
| Control | ||
|---|---|---|
| Untyped from the colony | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying a allele
View Strains carrying a (104 strains)
Phenotype
Phenotype Information
Osteogenesis Imperfecta, Type III - Models with phenotypic similarity to human disease where etiologies involve orthologs.1
1 Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
assigned by genotype
Col1a2oim/Col1a2+
B6C3Fe a/a-Col1a2oim/J
- skeleton phenotype
- abnormal cortical bone morphology (MGI Ref ID 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 (MGI Ref ID 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
Col1a2oim/Col1a2oim
involves: C3H/HeJ * C57BL/6JLe
- growth/size phenotype
- decreased body size (MGI Ref ID J:4348)
- skeleton phenotype
- abnormal bone mineralization (MGI Ref ID J:31692)
- mineral crystals within cortical bone are thinner and less well aligned, probably contributing to the brittleness of bones
- abnormal cancellous bone morphology (MGI Ref ID J:4348)
- femurs at 7 months of age show fewer medullary trabeculae
- abnormal cortical bone morphology (MGI Ref ID J:4348)
- lack of normal lamellar organization of the cortical bone
- decreased cortical bone thickness (MGI Ref ID J:31692)
- femurs at 7 months of age show cortical thinning and an increase in the number or density of cortical osteocytes
- abnormal joint morphology (MGI Ref ID J:4348)
- joint subluxation
- sclerosis around the knee joints
- abnormal osteocyte morphology (MGI Ref ID J:4348)
- increase in the number or density of cortical osteocytes
- abnormal skeleton extremities morphology (MGI Ref ID J:4348)
- drooping wrist appearance due to subluxation on one or both forepaws
- abnormal caudal vertebrae morphology (MGI Ref ID J:4348)
- periodically noticeable breaks in the tail vertebrae
- abnormal long bone morphology (MGI Ref ID J:31692)
- exhibit visible breaks in the long bones of the legs and bowing of the long bones
- decreased bone density (MGI Ref ID J:4348)
- generalized osteopenia
- decreased tendon stiffness (MGI Ref ID J:41509)
- tendon collagen is less resistant to tensile stress than wild-type collagen indicating that tendons are weaker
- fragile skeleton (MGI Ref ID J:31692)
- homozygotes are born with bone fractures or develop them at an early age and mutants often show evidence of healed fractures
- kyphosis (MGI Ref ID J:4348)
- older mice develop dorsal kyphosis
- scoliosis (MGI Ref ID J:4348)
- in older mice
- behavior/neurological phenotype
- abnormal gait (MGI Ref ID J:4348)
- older animals develop an abnormal gait
- cardiovascular system phenotype
- hemorrhage (MGI Ref ID J:4348)
- hemorrhage into the joint cavities, sides of the body, or around the scapulas
- limbs/digits/tail phenotype
- abnormal skeleton extremities morphology (MGI Ref ID J:4348)
- drooping wrist appearance due to subluxation on one or both forepaws
- abnormal caudal vertebrae morphology (MGI Ref ID J:4348)
- periodically noticeable breaks in the tail vertebrae
- abnormal long bone morphology (MGI Ref ID J:31692)
- exhibit visible breaks in the long bones of the legs and bowing of the long bones
- skin/coat/nails phenotype
- abnormal skin morphology (MGI Ref ID J:4348)
- fibroblasts in the skin contain greatly dilated cisternae of the rough endoplasmic reticulum
- abnormal dermal layer morphology (MGI Ref ID J:4348)
- dermal fibroblasts exhibit a rounded morphology instead of the typical elongated shape
- muscle phenotype
- decreased tendon stiffness (MGI Ref ID J:41509)
- tendon collagen is less resistant to tensile stress than wild-type collagen indicating that tendons are weaker
Col1a2oim/Col1a2oim
B6C3Fe a/a-Col1a2oim/J
- skeleton phenotype
- abnormal compact bone morphology (MGI Ref ID J:38013)
- exhibit very little lamellar bone
- abnormal cortical bone morphology (MGI Ref ID J:38013)
- cortical bone appears disorganized, very cellular, and highly vascularized
- abnormal tendon morphology (MGI Ref ID J:124000)
- higher than normal denaturation temperature of the tail tendon
- decreased bone strength (MGI Ref ID 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 phenotype
- abnormal tendon morphology (MGI Ref ID J:124000)
- higher than normal denaturation temperature of the tail tendon
- skin/coat/nails phenotype
- abnormal skin morphology (MGI Ref ID J:124000)
- thermogram assessment shows a 2.3 degree increase in skin denaturation temperature
- cellular phenotype
- *normal* cellular phenotype (MGI Ref ID J:124000)
- normal hydroxylation of lysine in skin and tendon
This mouse can be used to support research in many areas including:Col1a2oim related
Developmental Biology Research
Defects in Extracellular Matrix Molecules
Skeletal Defects
Mouse/Human Gene Homologs
osteogenesis imperfecta congenita, Ehlers-Danlos syndrome, type VII, autosomal dominant
Genes & Alleles
Gene & Allele Information
| Allele Symbol | Col1a2oim | ||
|---|---|---|---|
| Allele Name | osteogenesis imperfecta | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | oim; | ||
| Strain of Origin | (C3H/HeJ x C57BL/6JLe)F2 | ||
| Gene Symbol and Name | Col1a2, collagen, type I, alpha 2 | ||
| Chromosome | 6 | ||
| Gene Common Name(s) | AA960264; AI325291; Col1a-2; Cola-2; Cola2; OI4; expressed sequence AA960264; expressed sequence AI325291; oim; osteogenesis imperfecta; procollagen type I, alpha 2; | ||
| General Note | Heterozygotes exhibit phenotypic similarity to human syndrome: mild form of osteogenesis imperfecta (J:38013). | ||
| Molecular Note | A deletion of a single G residue at position 3983 is predicted to result in a frameshift mutation and an alteration of the last 48 amino acids in the encoded protein. [MGI Ref ID J:17202] [MGI Ref ID J:41994] [MGI Ref ID J:4348] | ||
| Allele Symbol | a | ||
| Allele Name | nonagouti | ||
| Allele Type | Spontaneous | ||
Genotyping
Genotyping Information
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Genotyping resources and troubleshooting
References
References
Additional References
Weis SM; Emery JL; Becker KD; McBride DJ Jr; Omens JH; McCulloch AD. 2000. Myocardial mechanics and collagen structure in the osteogenesis imperfecta murine (oim). Circ Res 87(8):663-9. [PubMed: 11029401] [MGI Ref ID J:82592]
Col1a2oim relatedBrodeur AC; Wirth DA; Franklin CL; Reneker LW; Miner JH; Phillips CL. 2007. Type I collagen glomerulopathy: postnatal collagen deposition follows glomerular maturation. Kidney Int 71(10):985-93. [PubMed: 17361118] [MGI Ref ID J:136784]
Camacho NP; Hou L; Toledano TR; Ilg WA; Brayton CF; Raggio CL; Root L; Boskey AL. 1999. The material basis for reduced mechanical properties in oim mice bones. J Bone Miner Res 14(2):264-72. [PubMed: 9933481] [MGI Ref ID J:54730]
Camacho NP; Landis WJ; Boskey AL. 1996. Mineral changes in a mouse model of osteogenesis imperfecta detected by Fourier transform infrared microscopy. Connect Tissue Res 35(1-4):259-65. [PubMed: 9084664] [MGI Ref ID J:39178]
Carleton SM; McBride DJ; Carson WL; Huntington CE; Twenter KL; Rolwes KM; Winkelmann CT; Morris JS; Taylor JF; Phillips CL. 2008. Role of genetic background in determining phenotypic severity throughout postnatal development and at peak bone mass in Col1a2 deficient mice (oim). Bone 42(4):681-94. [PubMed: 18313376] [MGI Ref ID J:136569]
Chipman SD; Sweet HO; McBride DJ Jr; Davisson MT; Marks SC Jr; Shuldiner AR; Wenstrup RJ; Rowe DW; Shapiro JR. 1993. Defective pro alpha 2(I) collagen synthesis in a recessive mutation in mice: a model of human osteogenesis imperfecta. Proc Natl Acad Sci U S A 90(5):1701-5. [PubMed: 8446583] [MGI Ref ID J:4348]
Fratzl P; Paris O; Klaushofer K; Landis WJ. 1996. Bone mineralization in an osteogenesis imperfecta mouse model studied by small-angle x-ray scattering. J Clin Invest 97(2):396-402. [PubMed: 8567960] [MGI Ref ID J:31692]
Grabner B; Landis WJ; Roschger P; Rinnerthaler S; Peterlik H; Klaushofer K; Fratzl P. 2001. Age- and genotype-dependence of bone material properties in the osteogenesis imperfecta murine model (oim). Bone 29(5):453-7. [PubMed: 11704498] [MGI Ref ID J:109416]
Guillot PV; Cook HT; Pusey CD; Fisk NM; Harten S; Moss J; Shore I; Bou-Gharios G. 2008. Transplantation of human fetal mesenchymal stem cells improves glomerulopathy in a collagen type I alpha 2-deficient mouse. J Pathol 214(5):627-36. [PubMed: 18266309] [MGI Ref ID J:133328]
Kalajzic I; Terzic J; Rumboldt Z; Mack K; Naprta A; Ledgard F; Gronowicz G; Clark SH; Rowe DW. 2002. Osteoblastic response to the defective matrix in the osteogenesis imperfecta murine (oim) mouse. Endocrinology 143(5):1594-601. [PubMed: 11956140] [MGI Ref ID J:76321]
Lopez Franco GE; Huang A; Pleshko Camacho N; Blank RD. 2005. Dental phenotype of the col1a2(oim) mutation: DI is present in both homozygotes and heterozygotes. Bone 36(6):1039-46. [PubMed: 15878701] [MGI Ref ID J:105006]
McBride DJ Jr; Choe V; Shapiro JR; Brodsky B. 1997. Altered collagen structure in mouse tail tendon lacking the alpha 2(I) chain. J Mol Biol 270(2):275-84. [PubMed: 9236128] [MGI Ref ID J:41994]
McBride DJ Jr; Shapiro JR. 1994. Confirmation of a G nucleotide deletion in the Cola-2 gene of mice with the osteogenesis imperfecta mutation. Genomics 20(1):135-7. [PubMed: 8020944] [MGI Ref ID J:17202]
McBride DJ Jr; Shapiro JR; Dunn MG. 1998. Bone geometry and strength measurements in aging mice with the oim mutation. Calcif Tissue Int 62(2):172-6. [PubMed: 9437052] [MGI Ref ID J:45596]
Miles CA; Sims TJ; Camacho NP; Bailey AJ. 2002. The role of the alpha2 chain in the stabilization of the collagen type I heterotrimer: a study of the type I homotrimer in oim mouse tissues. J Mol Biol 321(5):797-805. [PubMed: 12206762] [MGI Ref ID J:124000]
Misof K; Landis WJ; Klaushofer K; Fratzl P. 1997. Collagen from the osteogenesis imperfecta mouse model (oim) shows reduced resistance against tensile stress. J Clin Invest 100(1):40-5. [PubMed: 9202055] [MGI Ref ID J:41509]
Pfeiffer BJ; Franklin CL; Hsieh FH; Bank RA; Phillips CL. 2005. Alpha 2(I) collagen deficient oim mice have altered biomechanical integrity, collagen content, and collagen crosslinking of their thoracic aorta. Matrix Biol 24(7):451-8. [PubMed: 16095890] [MGI Ref ID J:102262]
Phillips CL; Bradley DA; Schlotzhauer CL; Bergfeld M; Libreros-Minotta C; Gawenis LR; Morris JS; Clarke LL; Hillman LS. 2000. Oim mice exhibit altered femur and incisor mineral composition and decreased bone mineral density. Bone 27(2):219-26. [PubMed: 10913914] [MGI Ref ID J:82589]
Phillips CL; Pfeiffer BJ; Luger AM; Franklin CL. 2002. Novel collagen glomerulopathy in a homotrimeric type I collagen mouse (oim). Kidney Int 62(2):383-91. [PubMed: 12109999] [MGI Ref ID J:103946]
Saban J; Zussman MA; Havey R; Patwardhan AG; Schneider GB; King D. 1996. Heterozygous oim mice exhibit a mild form of osteogenesis imperfecta. Bone 19(6):575-9. [PubMed: 8968022] [MGI Ref ID J:38013]
Sims TJ; Miles CA; Bailey AJ; Camacho NP. 2003. Properties of collagen in OIM mouse tissues. Connect Tissue Res 44 Suppl 1:202-5. [PubMed: 12952198] [MGI Ref ID J:103112]
Weis SM; Emery JL; Becker KD; McBride DJ Jr; Omens JH; McCulloch AD. 2000. Myocardial mechanics and collagen structure in the osteogenesis imperfecta murine (oim). Circ Res 87(8):663-9. [PubMed: 11029401] [MGI Ref ID J:82592]
Health & husbandry
Health & Colony Maintenance Information
Animal Health Reports
Room Number FGB29
Colony Maintenance
Mating System Outcross-Intercross (Female x Male) 01-MAR-06 TJL Breeding Summary: homozygote x B6C3Fe a/a F1 or B6C3Fe a/a F1 x homozygote then heterozygote x heterozygote Diet Information LabDiet® 5K52/5K67
Purchasing information
Pricing, Supply Level & Notes, Controls, General Terms & Conditions
Pricing
| Pricing for USA, Canada and Mexico shipping destinations |
|
Weeks of Age Price (US dollars $) Gender Genotypes Provided Individual Mouse $207.10 Female or Male Homozygous for Col1a2oim
Pairs /Price (US dollars $) Pair Genotype $261.40 Heterozygous for Col1a2oim x Heterozygous for Col1a2oim
Additional Supply Details
| Pricing for International shipping destinations |
|
Weeks of Age Price (US dollars $) Gender Genotypes Provided Individual Mouse $269.30 Female or Male Homozygous for Col1a2oim
Pairs /Price (US dollars $) Pair Genotype $339.90 Heterozygous for Col1a2oim x Heterozygous for Col1a2oim
Additional Supply Details
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Supply Details
| Standard Supply | Repository-Live. A collection of over 1000 strains maintained as live colonies. Individual colonies are sized to meet current customer demand. Delivery for orders of 10 mice or less ranges on average from one to eight weeks; mice are generally shipped between four to six weeks of age with a maximum shipping age of approximately nine weeks. Colony sizes do not generally support stringent age specifications for large volumes of mice; however custom orders and larger quantities of mice are easily arranged. Estimated ship dates for all orders provided within two business days following order placement. |
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| Supply Notes |
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Control Information
| Control | ||
|---|---|---|
| Untyped from the colony | ||
| Considerations for Choosing Controls | ||
| USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains. | ||
| International - Control Pricing Information for Genetically Engineered Mutant Strains. | ||
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