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- Description
- Phenotype
- Genes & alleles
- Genotyping
- Health & husbandry
- References
- Purchasing information
- Terms of Use
Description
Strain Information
Type Congenic; Mutant Stock; Spontaneous Mutation; Additional information on Genetically Engineered Mutant Mice. Mating System Homozygote x heterozygote OR Heterozygote x Homozygote OR Heterozygote x Heterozygote Species laboratory mouse Generation N10F10 (14-DEC-07) Appearance
black
Related Genotype: a/aDescription
Newborn homozygotes are smaller than normal, have a shortened trunk, and often display head bobbing. Decreased body weight persists into adulthood, and the noses, trunks, tails, skulls, and long bones of adults are shortened relative to those of normal siblings. Abnormal epiphyses, with dysplasia of the vertebrae, femora, and tibias are found. Although light microscopy failed to detect any abnormalities in the inner ear, the head bobbing characteristic accompanying this mutation is usually associated with inner ear defects. Auditory brainstem response threshold analysis of 10-15 week old homozygotes does show hearing impairment. Clefts develop between the inner and outer aspects of the inner nuclear layer of the retina (retinoschisis).Development
The sedc mutation arose spontaneously in the C57BL/6J segment of chromosome 15 in a mixed background comprised of C57BL/6J, C3H/HeJ and AKR/J. It has been maintained on this STOCK background by breeding a homozygous female or male with a heterozygous sibling of the opposite sex. In 2004 the strain STOCK Col2a1sedc/J (#003907) reached F22. The sedc mutation was also backcrossed to C57BL/6J and in 2004 B6(Cg)-Col2a1sedc/J (#003916) reached N10F1.
Control Information
| Control | ||
|---|---|---|
| Heterozygote from the colony | ||
| Untyped from the colony | ||
| 000664 C57BL/6J | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying other alleles of Col2a1
003554 B6;SJL-Tg(Col2a1-cre)1Bhr/J 006774 FVB-Tg(Col2a1-cre/ESR1)KA3Smac/J View Strains carrying other alleles of Col2a1 (2 strains)
Additional Web Information
Genetic Quality Control Annual Report
Phenotype
Phenotype Information
Spondyloepiphyseal Dysplasia Congenita; SEDC - 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
Col2a1sedc/Col2a1sedc
involves: C57BL/6J
- behavior/neurological phenotype
- head bobbing (MGI Ref ID J:85735)
- manifests early and often apparent from birth
- seizures (MGI Ref ID J:85735)
- spinning (MGI Ref ID J:85735)
- digestive/alimentary phenotype
- abnormal digestive system physiology (MGI Ref ID J:85735)
- growth/size phenotype
- decreased body length (MGI Ref ID J:85735)
- as the mutants mature and age, their bodies appear shorter and stockier and weigh less than those of their littermates
- decreased body weight (MGI Ref ID J:85735)
- hearing/vestibular/ear phenotype
- head bobbing (MGI Ref ID J:85735)
- manifests early and often apparent from birth
- impaired hearing (MGI Ref ID J:85735)
- mice had a significant hearing impairment
- no anomalies were observed by light microscopy of whole mounts or cross sections of the inner ear
- vision/eye phenotype
- disorganized retinal layers (MGI Ref ID J:85735)
- ophthalmoscopic examination revealed an unusual defect wherein the inner and outer layers of the inner nuclear layer (INL) of the retina had become separated
- nervous system phenotype
- seizures (MGI Ref ID J:85735)
This mouse can be used to support research in many areas including:Col2a1sedc related
Developmental Biology Research
Defects in Extracellular Matrix Molecules
Eye Defects
Growth Defects
Skeletal Defects
Mouse/Human Gene Homologs
Spondyloepiphyseal dysplasia, congenital type
Sensorineural Research
Eye Defects
Vestibular and Hearing Defects
Genes & Alleles
Gene & Allele Information
| Allele Symbol | Col2a1sedc | ||
|---|---|---|---|
| Allele Name | spondyloepiphyseal dysplasia congenita | ||
| Allele Type | Spontaneous | ||
| Strain of Origin | Mixed stock | ||
| Gene Symbol and Name | Col2a1, collagen, type II, alpha 1 | ||
| Chromosome | 15 | ||
| Gene Common Name(s) | ANFH; AOM; CG2A1A; COL11A3; COLLII; Col2; Col2a; Col2a-1; Del1; Dmm; MGC131516; SEDC; disproportionate micromelia; procollagen, type II; | ||
| Molecular Note | Sequence analysis identified a point mutation in exon 48 that changed codon 1417 from CGC to TGC, resulting in substitution of cysteine for arginine (Arg1417Cys). [MGI Ref ID J:85735] | ||
Genotyping
Genotyping Information
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Optimizing PCR Protocols
References
References
Selected Reference(s)
Donahue LR; Chang B; Mohan S; Miyakoshi N; Wergedal JE; Baylink DJ; Hawes NL; Rosen CJ; Ward-Bailey P; Zheng QY; Bronson RT; Johnson KR; Davisson MT. 2003. A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis. J Bone Miner Res 18(9):1612-21. [PubMed: 12968670] [MGI Ref ID J:85735]
Health & husbandry
Health & Colony Maintenance Information
Animal Health Reports
Room Number FGB29
Colony Maintenance
Mating System Homozygote x heterozygote OR Heterozygote x Homozygote OR 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 |
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Weeks of Age Price* Gender Genotypes Provided Individual Mouse Price $199.30 Female or Male Homozygous for Col2a1sedc *Price(s) in US dollars ($)
Pairs /Price* Pair Genotype $229.60 Heterozygous for Col2a1sedc x Heterozygous for Col2a1sedc $314.10 Heterozygous for Col2a1sedc x Homozygous for Col2a1sedc $314.10 Homozygous for Col2a1sedc x Heterozygous for Col2a1sedc
Additional Supply Details
| Supply Notes |
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| Pricing for International shipping destinations |
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Weeks of Age Price* Gender Genotypes Provided Individual Mouse Price $259.10 Female or Male Homozygous for Col2a1sedc *Price(s) in US dollars ($)
Pairs /Price* Pair Genotype $298.50 Heterozygous for Col2a1sedc x Heterozygous for Col2a1sedc $408.40 Heterozygous for Col2a1sedc x Homozygous for Col2a1sedc $408.40 Homozygous for Col2a1sedc x Heterozygous for Col2a1sedc
Additional Supply Details
| Supply Notes |
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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 ~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. |
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| Supply Notes |
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Control Information
| Control | ||
|---|---|---|
| Heterozygote from the colony | ||
| Untyped from the colony | ||
| 000664 C57BL/6J | ||
| 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. | ||
General Terms and Conditions
See Terms of Use
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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.Ordering and Purchasing Information
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| fax: | 207-288-6655 |
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