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- Description
- Disease & phenotype
- Genes & alleles
- Genotyping
- Health & care
- References
- Pricing & purchasing
- Terms of use
Description
The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.
Strain Information
Former Names C3HeB/FeJ-Fbn2fp/J (Changed: 13-MAR-08 ) C3HeB/FeJ-syfp/+ (Changed: 15-DEC-04 ) Type Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation N10 F11
Generation DefinitionsAppearance
agouti, toe defects
Related Genotype: A/A Fbn2fp/Fbn2fp
agouti, unaffected
Related Genotype: A/A Fbn2fp/+Description
Mice homozygous for the recessive fused phalanges mutation (Fbn2fp) have syndactyly of the second, third, and/or the fourth digits of the hindlimbs and sometimes also the forelimbs, and this trait is usually not bilaterally symmetrical (Hummell and Chapman, 1971; Chaudhry et al., 2001). This syndactyly likely results from defective mesenchyme differentiation rather than failed interdigital apoptosis (Arteaga-Solis et al., 2001). Although western blot analysis fails to detect FBN2 in Fbn2fp homozygotes, rotary shadowing electron microscopy identifies abundant, morphologically normal microfibrils in adult skin and lung (Chaudhry et al., 2001).Development
The fused phlanges (fp) mutation in Fbn2 arose spontaneously on the C3HeB/FeHu background. This mutation was outcrossed to C57BL/6J and sibling mated for eight generations before being backcrossed to C3HeB/FeJ for ten generations. Thereafter it was sibling bred and in 1984 N10F10 heterozygous females were bred with N10F10 homozygous males to generate embryos for cryopreservation.
Control Information
| Control | ||
|---|---|---|
| Heterozygote from the colony | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying other alleles of Fbn2
002995 B6 x C.B10-H2b/LiMcdJ-Fbn2fp-2J/J 003820 STOCK Fbn2fp-3J View Strains carrying other alleles of Fbn2 (2 strains)
Phenotype
Phenotype Information
- No similarity to the expected human disease phenotype was found. One or more human genes are associated with this human disease. The mouse genotype may involve mutations to orthologs of one or more of these genes, but the phenotype did not resemble the disease.
Arthrogryposis, Distal, Type 9; DA9
assigned by genotype
Fbn2fp/Fbn2fp
C3Fe(B6)-Fbn2fp/J
- behavior/neurological phenotype
- decreased grip strength (MGI Ref ID J:157998)
- limb grasping (MGI Ref ID J:157998)
- muscle phenotype
- muscle weakness (MGI Ref ID J:157998)
- limbs/digits/tail phenotype
- syndactyly (MGI Ref ID J:157998)
- variable penetrance, usually of digits 2 and 3 or 3 and 4, more rarely 2, 3 and 4; more frequent incidence in hindpaws than forepaws (MGI Ref ID J:13514)
This mouse can be used to support research in many areas including:Fbn2fp related
Cell Biology Research
Defects in Cell Adhesion Molecules
Defects in Extracellular Matrix Molecules
Genes Regulating Growth and Proliferation
Developmental Biology Research
Defects in Cell Adhesion Molecules
Defects in Extracellular Matrix Molecules
Skeletal Defects
syndactyly
Mouse/Human Gene Homologs
congenital contractural arachnodactyly
Genes & Alleles
Gene & Allele Information provided by MGI
| Allele Symbol | Fbn2fp | ||
|---|---|---|---|
| Allele Name | fused phalanges | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | fp; syfp; | ||
| Strain of Origin | C3HeB/FeHu | ||
| Gene Symbol and Name | Fbn2, fibrillin 2 | ||
| Chromosome | 18 | ||
| Gene Common Name(s) | BC063774; CCA; DA9; Fib-2; Sne; cDNA sequence BC063774; sne; sy; syndatyly ems; | ||
| Molecular Note | This mutation consists of a single nucleotide deletion in exon 39 in the Fbn2 gene, causing a frameshift of 44 amino acids before the introduction of a stop codon. RT-PCR analysis revealed that less Fbn2 transcript is produced in the fused phalanges mouse than in the parental strain from which it arose. [MGI Ref ID J:68881] | ||
References
References provided by MGI
Selected Reference(s)
Arteaga-Solis E; Gayraud B; Lee SY; Shum L; Sakai L; Ramirez F. 2001. Regulation of limb patterning by extracellular microfibrils. J Cell Biol 154(2):275-81. [PubMed: 11470817] [MGI Ref ID J:70592]
Additional References
Chaudhry SS; Gazzard J; Baldock C; Dixon J; Rock MJ; Skinner GC; Steel KP; Kielty CM; Dixon MJ. 2001. Mutation of the gene encoding fibrillin-2 results in syndactyly in mice. Hum Mol Genet 10(8):835-43. [PubMed: 11285249] [MGI Ref ID J:68881]
Fbn2fp relatedChaudhry SS; Gazzard J; Baldock C; Dixon J; Rock MJ; Skinner GC; Steel KP; Kielty CM; Dixon MJ. 2001. Mutation of the gene encoding fibrillin-2 results in syndactyly in mice. Hum Mol Genet 10(8):835-43. [PubMed: 11285249] [MGI Ref ID J:68881]
Dixon MJ; Gazzard J; Chaudhry SS; Sampson N; Schulte BA; Steel KP. 1999. Mutation of the Na-K-Cl co-transporter gene Slc12a2 results in deafness in mice. Hum Mol Genet 8(8):1579-84. [PubMed: 10401008] [MGI Ref ID J:56631]
Hummel KP; Chapman DB. 1971. Fused phalanges Mouse News Lett 45:28. [MGI Ref ID J:13514]
Johnson KR; Cook SA; Zheng QY. 1998. The original shaker-with-syndactylism mutation (sy) is a contiguous gene deletion syndrome. Mamm Genome 9(11):889-92. [PubMed: 9799839] [MGI Ref ID J:50578]
Miller G; Neilan M; Chia R; Gheryani N; Holt N; Charbit A; Wells S; Tucci V; Lalanne Z; Denny P; Fisher EM; Cheeseman M; Askew GN; Dear TN. 2010. ENU mutagenesis reveals a novel phenotype of reduced limb strength in mice lacking fibrillin 2. PLoS One 5(2):e9137. [PubMed: 20161761] [MGI Ref ID J:157998]
Health & husbandry
Health & Colony Maintenance Information
Animal Health Reports
Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.
Pricing and Purchasing
Pricing, Supply Level & Notes, Controls
| Pricing for USA, Canada and Mexico shipping destinations |
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Cryopreserved
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $3000.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
Supply Notes
- Cryorecovery - Standard.
Progeny testing is not required.
The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 11 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).
| Pricing for International shipping destinations |
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Cryopreserved
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $3900.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
Supply Notes
- Cryorecovery - Standard.
Progeny testing is not required.
The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 11 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).
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Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
General Supply Notes
- Genomic DNA is available for this strain from the Mouse DNA Resource.
Control Information
| Control | ||
|---|---|---|
| Heterozygote from the colony | ||
| Considerations for Choosing Controls | ||
| Control Pricing Information for Genetically Engineered Mutant Strains. | ||
Payment Terms and Conditions
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The Jackson Laboratory's Genotype Promise
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 Information
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