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Strain Name: |
B6C3Fe a/a-Col1a2oim/J |
Stock Number: |
001815 |
Availability:
| Repository- Live |
| Former Name |
B6C3Fe-a/a-Col1a2oim/+ (Changed: 15-DEC-04
)
|
| Genes & Alleles |
Col1a2;
Col1a2oim;
a;
|
Product Information
Strain Details
| Type |
JAX® GEMM® Strain -
Mutant Strain |
| Additional information on
JAX® GEMM® Strains. |
| Mating System | Outcross-Intercross
(Female x Male) |
|---|
| TJL Breeding Summary: homozygote x B6C3Fe a/a F1 or B6C3Fe a/a F1 x homozygote then heterozygote x heterozygote |
| Species | laboratory mouse |
| Generation | N40
(23-JAN-08)
|
|
|
Appearance
black, skeletal defects
Related Genotype: a/a Col1a2oim/Col1a2oim
black, normal outward appearance
Related Genotype: a/a +/? or a/a Col1a2oim/+
Strain 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.
Related Disease (OMIM) Terms |
Mammalian Phenotype Terms 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
- decreased bone density
(MGI Ref ID J:4348)
- 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
- 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)
- 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
- 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
|
Gene & Allele Details
| Allele Symbol |
Col1a2oim |
| Allele Name |
osteogenesis imperfecta |
| 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 |
Control Information
Colony Maintenance
Related Strains
Strains carrying a allele
View Strains carrying a (102 strains)
Strains carrying other alleles of a
View Strains carrying other alleles of a (67 strains)
Animal Health Reports
Room Number FGB29
Research Applications
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
References
Additional References
Price and Supply Information
| Strain Name: |
B6C3Fe a/a-Col1a2oim/J |
| Stock Number: |
001815 |
Price Details
IMPORTANT NOTE: Prices are based on shipping destination.
The shipping destinations are:
*Pricing for Shipping Destination selected:
International
| Price(s) in US dollars ($) | Genotype(s) Provided |
| Individual Mouse Price | $261.50 | Homozygous for Col1a2oim | | |
| Pair | $330.00 | Heterozygous for Col1a2oim x Heterozygous for Col1a2oim | | |
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 ~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 48 hours of order placement. |
| Supply Notes |
Histology and Tissue Collection Services are available for all JAX® Mice strains. For more information, please contact Customer Service at orderquest@jax.org or 1-207-288-5845.
Usually shipped between four and eight weeks of age.
This strain is included in the Mouse Mutant Resource collection.
Genomic DNA is available for this strain from the Mouse DNA Resource.
|
| Licensing | See General Terms and Conditions below
|
| Control Information | View Control Information in Strain Details.
View Control Pricing Information for JAX® Strains. |
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® Mice strains as
well as the genotypes of strains with identified molecular mutations.
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® Mice strains are only made available to researchers after meeting our
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Therefore, we
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® Mice will meet the needs of individual research projects
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and performing tests on a small number of mice to determine suitability for
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