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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 B6(AKR)-PfasSofa/J (Changed: 16-NOV-12 ) B6(AKR)-Sofa/J (Changed: 01-NOV-11 ) C57BL/6J-sofa/J (Changed: 25-OCT-07 ) Type Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation N1F15pN1
Generation DefinitionsDescription
The short face mutation is lethal in homozygotes and has varying penetrance in heterozygous carriers, which can be phenotypically undetectable or can display a short nose, domed skull, and wide set eyes.Development
The Sofa mutation arose spontaneously in the B6(AKR)-ApcMin/J strain at The Jackson Laboratory in 2000 when that strain was at generation N47. The mutant subline was backcrossed once to C57BL/6J and thereafter maintained by sibling intercrossing phenotypic wildtype with phenotypic carriers of this dominant mutation. The absence of the ApcMin mutation has been confirmed twice.
Control Information
| Control | ||
|---|---|---|
| 000664 C57BL/6J | ||
| Considerations for Choosing Controls | ||
Related Strains
Facebase: spontaneous mutations
003485 A/J-frg/GrsrJ 006446 B10.Cg-H2h4 Sh3pxd2bnee/GrsrJ 007710 B6(129P2)-Mmp14sabe/GrsrJ 008753 B6(129P2)-shsn/GrsrJ 008568 B6(CAST)-Prkralear/GrsrJ 003916 B6(Cg)-Col2a1sedc/GrsrJ 001934 B6(D2)-LmnaDhe/TyGrsrJ 005717 B6(NOD) H2g7-Sostdc1shk/GrsrJ 005624 B6(V) Lepob-whe/GrsrJ 005068 B6.C-PhexHyp-Duk/J 006428 B6.Cg-Hydinhyrh/GrsrJ 007947 B6;129P2-He/GrsrJ 012724 B6;C3Fe-Col2a1M2J/GrsrJ 002018 B6C3Fe a/a-din/J 005348 BALB/cByJ Agtpbp1pcd-3J-Bmp5cfe-se6J/GrsrJ 005412 BALB/cByJ-Fgfr1Eask/GrsrJ 004476 C3H/HeJ-snol/GrsrJ 003950 C57BL/6-PhexHyp-2J/J 004507 C57BL/6-stn/GrsrJ 005598 C57BL/6J-Arsbm1J/GrsrJ 004246 C57BL/6J-sbse/GrsrJ 005420 C;129S7 Gt(ROSA)26Sor-Bmp5cfe-se7J/GrsrJ 005421 CBy;B6-Bmp5cfe-se8J/GrsrJ 004423 DBA/1LacJ-Lrp4mdig/GrsrJ 006857 STOCK Frem2ne/GrsrJ View Facebase: spontaneous mutations (25 strains)
011079 B6(Cg)-PfasSofa-2J/GrsrJ
Phenotype
Phenotype Information
assigned by genotype
PfasSofa/Pfas+
B6(AKR)-PfasSofa/GrsrJThis mouse can be used to support research in many areas including:PfasSofa related
Developmental Biology Research
Craniofacial and Palate Defects
Genes & Alleles
Gene & Allele Information provided by MGI
| Allele Symbol | PfasSofa | ||
|---|---|---|---|
| Allele Name | short face | ||
| Allele Type | Spontaneous | ||
| Strain of Origin | B6(AKR)-Apc | ||
| Gene Symbol and Name | Pfas, phosphoribosylformylglycinamidine synthase (FGAR amidotransferase) | ||
| Chromosome | 11 | ||
| Gene Common Name(s) | 4432409B16Rik; FGAMS; FGARAT; Gm18; PURL; RIKEN cDNA 4432409B16 gene; Sofa; gene model 18, (NCBI); short face; | ||
| Molecular Note | This spontaneous mutation was found to be a 15 base pair deletion. [MGI Ref ID J:176116] | ||
References
References provided by MGI
Selected Reference(s)
Curtain MM; Donahue LR. 2007. A short face mutation on Chromosome 11 MGI Direct Data Submission :. [MGI Ref ID J:125614]
Fairfield H; Gilbert GJ; Barter M; Corrigan RR; Curtain M; Ding Y; D'Ascenzo M; Gerhardt DJ; He C; Huang W; Richmond T; Rowe L; Probst FJ; Bergstrom DE; Murray SA; Bult C; Richardson J; Kile BT; Gut I; Hager J; Sigurdsson S; Mauceli E; Di Palma F; Lindblad-Toh K; Cunningham ML; Cox TC; Justice MJ; Spector MS; Lowe SW; Albert T; Donahue LR; Jeddeloh J; Shendure J; Reinholdt LG. 2011. Mutation discovery in mice by whole exome sequencing. Genome Biol 12(9):R86. [PubMed: 21917142] [MGI Ref ID J:176116]
Health & husbandry
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.
Health & Colony Maintenance Information
Animal Health Reports
Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.Colony Maintenance
Breeding & Husbandry Although dominant, the Sofa mutation has varied penetrance. This strain is maintained by intercrossing phenotypic heterozygotes with unaffected siblings presumed to be +/+, but potentially low penetrance carriers.
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* $2250.00 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* $2925.00 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 | ||
|---|---|---|
| 000664 C57BL/6J | ||
| Considerations for Choosing Controls | ||
| Control Pricing Information for Genetically Engineered Mutant Strains. | ||
Payment Terms and Conditions
Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.
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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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| phone: | 207-288-6470 |
| fax: | 207-288-6655 |
JAX® Mice, Products & Services Conditions of Use
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