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Strain Name:

129T1/Sv-Oca2+ Tyrc-ch-Aft/J

Stock Number:

001279

Availability:

Repository-Cryopreserved

Price and Supply Information

General Terms and Conditions

Former Name      129T1/Sv-p+ Tyrc-ch-Aft/J    (Changed: 11-FEB-08 )
Genes & Alleles   Aft;   Oca2;   Oca2+;   Tyr;   Tyrc-ch;

Product Information

Strain Details

Type JAX® GEMM® Strain - Mutant Strain
Additional information on JAX® GEMM® Strains.
Specieslaboratory mouse
GenerationN14F3p

Strain Description
Aft is a dominant mutation that causes increased postnatal lethality in heterozygotes and nearly 100% embryonic or perinatal lethality in homozygotes. Aft/+ mice can be identified by tail kinks near the tail tip and syndactyly of the third and fourth digits of the hind feet, a trait which is often unilateral. This syndactyly does not result from bone fusion, but rather from the persistence of the skin web that normally is removed via apoptosis during development. The tail kinks appear to result from cartilage overgrowth and fusion. Alopecia is found at six to eight months of age and can progress into bleeding ulcerations. Histology of Aft/+ skin shows fewer follicles, fibrosis, and an increase in the number of mast cells. The penetrance of this mutation is only approximately 65% on the 129/Sv and C57BL/6J backgrounds and the expressivity is variable. The most prevalent trait in Aft/+ mice is tail kinks, followed by syndactyly then skin lesions. The Aft mutation interacts with T such that double heterozygosity for Aft and T together increases the likelihood of having no tail relative to heterozygosity for T alone. Aft maps within the vicinity of brachyury modifier 1 on chromosome 9. (Lane, 1987; Ruvinsky et al., 2002.)

Strain Development
Aft arose spontaneously in 1984 on the 129/Sv-p+ Tyrc-ch-KitW-54J background in the laboratory of Dr. Jane Barker at The Jackson Laboratory. KitW-54J was bred away from Aft and in 1988 N14F2 heterozygotes of either gender were bred with 129/Sv mates to generate embryos for cryopreservation.

Mammalian Phenotype Terms assigned by genotype

The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.

Aft/Aft+

        involves: 129S1/Sv
  • limbs/digits/tail phenotype
  • kinked tail (MGI Ref ID J:12972)
    • 50% penetrance
  • syndactyly (MGI Ref ID J:12972)
    • syndactyly of digits 3 and 4 of the hindfeet, 50% penetrance

Aft/Aft+

        involves: 129S1/Sv * C57BL/6J
  • skin/coat/nails phenotype
  • alopecia (MGI Ref ID J:81166)
    • incompletely penetrant progressive late-onset hair loss (around 6-8 months of age) that starts locally around the snout and back of ears
  • decreased hair follicle number (MGI Ref ID J:81166)
    • skin shows focal areas of decreased hair follicle density with fibrous tracts, pigment incontinence and increased mast cells
  • disheveled coat (MGI Ref ID J:81166)
    • at around 6-8 months of age, when local hair loss begins, the fur appears clumpy and unkempt
  • skin lesions (MGI Ref ID J:81166)
    • late-onset (6-8 months of age) of skin lesions following hair loss that progress into bleeding ulcerations
  • limbs/digits/tail phenotype
  • kinked tail (MGI Ref ID J:81166)
    • tail kinks are most likely caused by varying degrees of cartilage overgrowth and fusion and a dysmorphogenesis of bony elements attached to the fusion site
  • syndactyly (MGI Ref ID J:81166)
    • partial syndactyly of digits 3 and 4 on the hindlimbs, commonly unilateral
    • several mutants are seen in which digits other than 3 and 4 are fused
    • interdigital webbing (MGI Ref ID J:81166)
      • syndactyly is caused by the persistence of the skin web between the digits and not due to fused bony elements

Gene & Allele Details

Allele Symbol Aft
Allele Name abnormal feet and tail
Strain of Origin129S1/Sv-KitW-54J Tyrc-ch
 
Allele Symbol Oca2+
Allele Name wild type
Gene Symbol and Name Oca2, oculocutaneous albinism II
Chromosome 7
Gene Common Name(s) BEY; BEY1; BEY2; BOCA; D15S12; D7H15S12; D7Icr28RN; D7Nic1; DNA segment, Chr 7, Institute for Cancer Research 28RN; DNA segment, Chr 7, Nicholls 1; DNA segment, Chr 7, human D15S12; EYCL; EYCL2; EYCL3; HCL3; P; PED; SHEP1; p; pink-eyed dilution;
 
Allele Symbol Tyrc-ch
Allele Name chinchilla
Common Name(s) cch; cr;
Strain of Originfancier's stock
Gene Symbol and Name Tyr, tyrosinase
Chromosome 7
Gene Common Name(s) C; OCA1A; OCAIA; SHEP3; albino; c; skc35; skin/coat color 35;
Molecular Note The mutation in the chinchilla allele was found to be a G to A point mutation that results in an amino acid change at position 464 from alanine to threonine. [MGI Ref ID J:19279]

Control Information

  Allele   Control
 Aft  Untyped from the colony
 Aft  002065 129T2/SvEmsJ
   Wild-type from the colony
   002065 129T2/SvEmsJ
 
  Considerations for Choosing Controls
  Control Pricing Information for JAX® GEMM® Strains

Related Strains

View Strains carrying   Oca2+     (4 strains)

Strains carrying   Tyrc-ch allele
000091   129T1/Sv-Oca2+ Tyrc-ch Dnd1Ter/J
000578   B6 x STOCK Tyrc-ch Bmp5se +/+ Myo6sv/J
000619   FS/EiJ
004828   FVB.129P2-Pde6b+ Tyrc-ch/AntJ
000271   SH1/LeJ
000306   STOCK Dll3pu + Tyrc-ch/+ Oca2p Tyrc-ch/J
View Strains carrying   Tyrc-ch     (6 strains)

View Strains carrying other alleles of Oca2     (19 strains)

View Strains carrying other alleles of Tyr     (40 strains)

Additional Web Information

New 129 Nomenclature Bulletin

Research Applications

This mouse can be used to support research in many areas including:

Aft related

Developmental Biology Research
Skeletal Defects

Tyrc-ch related

Dermatology Research
Color and White Spotting Defects

Developmental Biology Research
Neurodevelopmental Defects
Skeletal Defects

Mouse/Human Gene Homologs
albinism, tyrosine negative

References

Additional References

Price and Supply Information

Strain Name: 129T1/Sv-Oca2+ Tyrc-ch-Aft/J
Stock Number: 001279

Price Details

IMPORTANT NOTE: Prices are based on shipping destination. The shipping destinations are:

*Pricing for Shipping Destination selected:

        USA, Canada and Mexico

Price(s) in US dollars ($)
Cryorecovery Fee $1900.00

Supply Details

Standard SupplyRepository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information.
Supply Notes Cryorecovery - Standard.
The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two males and two females (two pairs) will be provided, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery.

Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services: Tel: 1-800-422-6423 or 1-207-288-5845; Email: jaxservices@jax.org.
Genomic DNA is available for this strain from the Mouse DNA Resource.

LicensingSee General Terms and Conditions below  
Control InformationView Control Information in Strain Details.
View Control Pricing Information for JAX® Strains.

General Terms and Conditions

View JAX® Mice & Services Conditions of Use.

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.
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