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Former Names 129T1/Sv-p+ Tyrc-ch-Aft/J (Changed: 11-FEB-08 ) Type Mutant Strain; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation N14F3p 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.)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.
| Control | ||
|---|---|---|
| Untyped from the colony | ||
| Wild-type from the colony | ||
| 002065 129T2/SvEmsJ | ||
| Considerations for Choosing Controls | ||
Strains carrying Oca2+ allele
000090 129S1/Sv-Oca2+ Tyr+ KitlSl-J/J 000091 129T1/Sv-Oca2+ Tyrc-ch Dnd1Ter/J 000822 B6 x 129S1/SvEi Oca2+ Tyr+-Vsx2or-J/J 000494 J.Cg-Oca2+ Tyr+ Lystbg/J 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)
Strains carrying other alleles of Oca2
000004 ABP/LeJ 000577 B6 x STOCK a Oca2p Hps5ru2 Ednrbs/J 001059 B6By.Cg-Oca2p/J 002460 C3H/HeJ-Oca2p-J Is(7;1)40H/J 000513 C3H/HeJ-Oca2p-J/J 001136 C57BL/6J-Oca2p-un+2J/J 001506 C57BL/6J-Oca2p-un+3J/J 001810 C57BL/6J-Oca2p-un+4J/J 001513 C57BL/6J-Oca2p-un+5J/J 001499 C57BL/6J-Oca2p-un+6J/J 001033 C57BL/6J-Oca2p-un+J/J 000028 C57BL/6J-Oca2p-un/J 000619 FS/EiJ 000306 STOCK Dll3pu + Tyrc-ch/+ Oca2p Tyrc-ch/J 001584 STOCK Oca2p-J/Oca2p-bs/J 001585 STOCK Oca2p-d/Oca2p-25H/J 000823 STOCK Oca2p-d/Oca2p-6H/J 001747 STOCK Oca2p-d/Oca2p-cp/J 001618 STOCK Oca2p/Oca2p Prop1df/J View Strains carrying other alleles of Oca2 (19 strains)
Strains carrying other alleles of Tyr
View Strains carrying other alleles of Tyr (40 strains)
New 129 Nomenclature Bulletin
View Mammalian Phenotype Terms
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
View Research Applications
Research Applications
This mouse can be used to support research in many areas including:Aft related
Tyrc-ch relatedDevelopmental Biology Research
Skeletal Defects
Dermatology Research
Color and White Spotting Defects
Developmental Biology Research
Neurodevelopmental Defects
Skeletal Defects
Mouse/Human Gene Homologs
albinism, tyrosine negative
| Allele Symbol | Aft | ||
|---|---|---|---|
| Allele Name | abnormal feet and tail | ||
| Allele Type | Spontaneous | ||
| Strain of Origin | 129S1/Sv-KitW-54J Tyrc-ch | ||
| Gene Symbol and Name | Aft, abnormal feet and tail | ||
| Chromosome | 9 | ||
| Allele Symbol | Oca2+ | ||
| Allele Name | wild type | ||
| Allele Type | Not Specified | ||
| 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 | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | cch; cr; | ||
| Strain of Origin | fancier'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] | ||
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Genotyping resources and troubleshooting
Ruvinsky I; Chertkov O; Borue X th; Agulnik SI; Gibson-Brown JJ; Lyle SR; Silver LM. 2002. Genetics analysis of mouse mutations Abnormal feet and tail and rough coat, which cause developmental abnormalities and alopecia. Mamm Genome 13(12):675-9. [PubMed: 12514744] [MGI Ref ID J:81166]
Aft relatedOca2+ relatedLane PW. 1987. Abnormal feet and tail (Aft) Mouse News Lett 78:56-57. [MGI Ref ID J:12972]
Ruvinsky I; Chertkov O; Borue X th; Agulnik SI; Gibson-Brown JJ; Lyle SR; Silver LM. 2002. Genetics analysis of mouse mutations Abnormal feet and tail and rough coat, which cause developmental abnormalities and alopecia. Mamm Genome 13(12):675-9. [PubMed: 12514744] [MGI Ref ID J:81166]
Tyrc-ch relatedMouse Genome Informatics (MGI). 2006. Information obtained from The RIKEN BioResource Center :. [MGI Ref ID J:104881]
Anderson PD; Lam MY; Poirier C; Bishop CE; Nadeau JH. 2009. The role of the mouse y chromosome on susceptibility to testicular germ cell tumors. Cancer Res 69(8):3614-8. [PubMed: 19351821] [MGI Ref ID J:147731]
Beermann F; Ruppert S; Hummler E; Bosch FX; Muller G; Ruther U; Schutz G. 1990. Rescue of the albino phenotype by introduction of a functional tyrosinase gene into mice. EMBO J 9(9):2819-26. [PubMed: 2118105] [MGI Ref ID J:19279]
Bhattacharya C; Aggarwal S; Zhu R; Kumar M; Zhao M; Meistrich ML; Matin A. 2007. The mouse dead-end gene isoform alpha is necessary for germ cell and embryonic viability. Biochem Biophys Res Commun 355(1):194-9. [PubMed: 17291453] [MGI Ref ID J:118625]
Dunn LC. 1936. Studies on multiple allelomorphic series in the house mouse. I. Description of agouti and albino series of allelomorphs J Genet 33:443-53. [MGI Ref ID J:22600]
Errijgers V; Van Dam D; Gantois I; Van Ginneken CJ; Grossman AW; D'Hooge R; De Deyn PP; Kooy RF. 2007. FVB.129P2-Pde6b(+) Tyr(c-ch)/Ant, a sighted variant of the FVB/N mouse strain suitable for behavioral analysis. Genes Brain Behav 6(6):552-7. [PubMed: 17083330] [MGI Ref ID J:137779]
Feldman HW. 1935. A fifth allelomorph in the albino series of the house mouse J Mammal 16:207-210. [MGI Ref ID J:83666]
Feldman HW. 1922. A fourth allelomorph in the albino series in mice Am Naturalist 56:573-574. [MGI Ref ID J:14850]
Klebig ML; Kwon BS; Rinchik EM. 1992. Physical analysis of murine albino deletions that disrupt liver-specific gene regulation or mesoderm development. Mamm Genome 2(1):51-63. [PubMed: 1543902] [MGI Ref ID J:1540]
Laiosa MD; Lai ZW; Thurmond TS; Fiore NC; DeRossi C; Holdener BC; Gasiewicz TA; Silverstone AE. 2002. 2,3,7,8-tetrachlorodibenzo-p-dioxin causes alterations in lymphocyte development and thymic atrophy in hemopoietic chimeras generated from mice deficient in ARNT2. Toxicol Sci 69(1):117-24. [PubMed: 12215665] [MGI Ref ID J:113951]
Lamoreux ML; Wakamatsu K; Ito S. 2001. Interaction of major coat color gene functions in mice as studied by chemical analysis of eumelanin and pheomelanin. Pigment Cell Res 14(1):23-31. [PubMed: 11277491] [MGI Ref ID J:103803]
Lossie AC; Nakamura H; Thomas SE; Justice MJ. 2005. Mutation of l7Rn3 shows that Odz4 is required for mouse gastrulation. Genetics 169(1):285-99. [PubMed: 15489520] [MGI Ref ID J:96673]
Lyon MF. 1963. Attempts to test the inactive-X theory of dosage compensation in mammals Genet Res 4:93-103. [MGI Ref ID J:272]
Moyer FH. 1966. Genetic variations in the fine structure and ontogeny of mouse melanin granules. Am Zool 6(1):43-66. [PubMed: 5902512] [MGI Ref ID J:5001]
RUSSELL ES. 1949. A quantitative histological study of the pigment found in the coat-color mutants of the house mouse; interdependence among the variable granule attributes. Genetics 34(2):133-45. [PubMed: 18117146] [MGI Ref ID J:148461]
Russell ES. 1948. A Quantitative Histological Study of the Pigment Found in the Coat Color Mutants of the House Mouse. II. Estimates of the Total Volume of Pigment. Genetics 33(3):228-36. [PubMed: 17247280] [MGI Ref ID J:148462]
Russell ES. 1946. A Quantitative Histological Study of the Pigment Found in the Coat-Color Mutants of the House Mouse. I. Variable Attributes of the Pigment Granules. Genetics 31(3):327-46. [PubMed: 17247200] [MGI Ref ID J:148463]
Schedl A; Ruppert S; Kelsey G; Thies E; Niswander L; Magnuson T; Klebig ML; Rinchik EM; Schutz G. 1992. Chromosome jumping from flanking markers defines the minimal region for alf/hsdr-1 within the albino-deletion complex. Genomics 14(2):288-97. [PubMed: 1427845] [MGI Ref ID J:2638]
Silvers WK. 1979. The Coat Colors of Mice; A Model for Mammalian Gene Action and Interaction. In: The Coat Colors of Mice. Springer-Verlag, New York. [MGI Ref ID J:78801]
Sweet HO. 1987. Acromelanic (c<a>) Mouse News Lett 78:56. [MGI Ref ID J:14994]
Takeuchi S; Yamamoto H; Takeuchi T. 1988. Expression of tyrosinase gene in mice Genome 30(Suppl 1):260 (Abstr.). [MGI Ref ID J:30744]
Townsend D; Witkop CJ Jr; Mattson J. 1981. Tyrosinase subcellular distribution and kinetic parameters in wild type and C-locus mutant C57BL/6J mice. J Exp Zool 216(1):113-9. [PubMed: 6793688] [MGI Ref ID J:6611]
Vasiliou V; Buetler T; Eaton DL; Nebert DW. 2000. Comparison of oxidative stress response parameters in newborn mouse liver versus simian virus 40 (SV40)-transformed hepatocyte cell lines. Biochem Pharmacol 59(6):703-12. [PubMed: 10677587] [MGI Ref ID J:60274]
Vasiliou V; Reuter SF; Nebert DW. 1997. Extrahepatic expression of NAD(P)H:menadione oxidoreductase, UDP glucuronosyltransferase-1A6, microsomal aldehyde dehydrogenase, and hepatic nuclear factor-1 alpha mRNAs in ch/ch and 14CoS/14CoS mice. Biochem Biophys Res Commun 233(3):631-6. [PubMed: 9168903] [MGI Ref ID J:40515]
Currently there no information available for this strain. This may be due to the supply level of this strain.
| Pricing for USA, Canada and Mexico shipping destinations |
|
Animals Provided
Price (US dollars $) Cryorecovery Fee $1900.00 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.
| Pricing for International shipping destinations |
|
Animals Provided
Price (US dollars $) Cryorecovery Fee $2470.00 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 for further information. |
|---|---|
| Supply Notes |
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| Control | ||
|---|---|---|
| Untyped from the colony | ||
| Wild-type from the colony | ||
| 002065 129T2/SvEmsJ | ||
| 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. | ||
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| phone: | 207-288-6470 |
| fax: | 207-288-6655 |
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