Strain Name:

B6(AKR)-PfasSofa/GrsrJ

Stock Number:

004235

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Availability:

Cryopreserved - Ready for recovery

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.
Specieslaboratory mouse

Description
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

View Facebase: spontaneous mutations     (25 strains)

Strains carrying other alleles of Pfas
011079   B6(Cg)-PfasSofa-2J/GrsrJ
017383   FVB/N-PfasTg(Tyr)2307COve/Mmjax
View Strains carrying other alleles of Pfas     (2 strains)

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

PfasSofa/Pfas+

        B6(AKR)-PfasSofa/GrsrJ
  • craniofacial phenotype
  • domed cranium   (MGI Ref ID J:125614)
  • short snout   (MGI Ref ID J:125614)
  • skeleton phenotype
  • domed cranium   (MGI Ref ID J:125614)
  • vision/eye phenotype
  • ocular hypertelorism   (MGI Ref ID J:125614)
  • growth/size/body phenotype
  • short snout   (MGI Ref ID J:125614)
View Research Applications

Research Applications
This 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 OriginB6(AKR)-Apc/J
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]

Genotyping

Genotyping Information


Helpful Links

Genotyping resources and troubleshooting

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 & HusbandryAlthough 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 View International Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $2525.00
Animals Provided

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 willfulfill 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 10 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 View USA Canada and Mexico Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $3283.00
Animals Provided

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 willfulfill 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 10 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).

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Control Information

  Control
   000664 C57BL/6J
 
  Considerations for Choosing Controls
  Control Pricing Information for Genetically Engineered Mutant Strains.
 

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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.
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