JAX Mice Database - 001279 129T1/Sv-Oca2<+> Tyr<c-ch>-Aft/J

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Strain Name:	129T1/Sv-Oca2⁺ Tyr^c-ch-Aft/J
Stock Number:	001279
Availability:	Repository-Cryopreserved

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General Terms and Conditions

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

Product Information

Strain Details

Type JAX^® GEMM^® Strain - Mutant Strain

Additional information on JAX^® GEMM^® Strains.

Species laboratory mouse

Generation N14F3p

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⁺ Tyr^c-ch-Kit^W-54J background in the laboratory of Dr. Jane Barker at The Jackson Laboratory. Kit^W-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 Origin		129S1/Sv-Kit^W-54J Tyr^c-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		Tyr^c-ch
Allele Name		chinchilla
Common Name(s)		c^ch; c^r;
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]

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

Related Strains

Strains carrying Oca2⁺ allele

000090 129S1/Sv-Oca2⁺ Tyr⁺ Kitl^Sl-J/J

000091 129T1/Sv-Oca2⁺ Tyr^c-ch Dnd1^Ter/J

000822 B6 x 129S1/SvEi Oca2⁺ Tyr⁺-Vsx2^or-J/J

000494 J.Cg-Oca2⁺ Tyr⁺ Lyst^bg/J

View Strains carrying Oca2⁺ (4 strains)

Strains carrying Tyr^c-ch allele

000091 129T1/Sv-Oca2⁺ Tyr^c-ch Dnd1^Ter/J

000578 B6 x STOCK Tyr^c-ch Bmp5^se +/+ Myo6^sv/J

000619 FS/EiJ

004828 FVB.129P2-Pde6b⁺ Tyr^c-ch/AntJ

000271 SH1/LeJ

000306 STOCK Dll3^pu + Tyr^c-ch/+ Oca2^p Tyr^c-ch/J

View Strains carrying Tyr^c-ch (6 strains)

Strains carrying other alleles of Oca2

000004 ABP/LeJ

000577 B6 x STOCK a Oca2^p Hps5^ru2 Ednrb^s/J

001059 B6By.Cg-Oca2^p/J

002460 C3H/HeJ-Oca2^p-J Is(7;1)40H/J

000513 C3H/HeJ-Oca2^p-J/J

001136 C57BL/6J-Oca2^p-un+2J/J

001506 C57BL/6J-Oca2^p-un+3J/J

001810 C57BL/6J-Oca2^p-un+4J/J

001513 C57BL/6J-Oca2^p-un+5J/J

001499 C57BL/6J-Oca2^p-un+6J/J

001033 C57BL/6J-Oca2^p-un+J/J

000028 C57BL/6J-Oca2^p-un/J

000619 FS/EiJ

000306 STOCK Dll3^pu + Tyr^c-ch/+ Oca2^p Tyr^c-ch/J

001584 STOCK Oca2^p-J/Oca2^p-bs/J

001585 STOCK Oca2^p-d/Oca2^p-25H/J

000823 STOCK Oca2^p-d/Oca2^p-6H/J

001747 STOCK Oca2^p-d/Oca2^p-cp/J

001618 STOCK Oca2^p/Oca2^p Prop1^df/J

View Strains carrying other alleles of Oca2 (19 strains)

Strains carrying other alleles of Tyr

000090 129S1/Sv-Oca2⁺ Tyr⁺ Kitl^Sl-J/J

005445 A.B6 Tyr⁺-Cyba^nmf333/J

005012 A.B6 Tyr⁺-Myo5a^d-l31J/J

002565 A.B6-Tyr⁺/J

000409 B10.129P-H1^b Hbb^d Tyr^c Ea7^a/(5M)oSnJ

000418 B10.129P-H1^b Tyr^c Hbb^d/(5M)nSnJ

000432 B10.C-H1^b Hbb^d Tyr^c/(41N)SnJ

000580 B10.D2/nSn-Tyr^c-4J/J

000822 B6 x 129S1/SvEi Oca2⁺ Tyr⁺-Vsx2^or-J/J

000058 B6(Cg)-Tyr^c-2J/J

000383 B6.C-Tyr^c H1^b Hbb^d/ByJ

007484 B6.Cg-Tyr^c-2J Tg(Tyr)3412ARpw Tg(Sry-EGFP)92Ei/EiJ

000035 B6.Cg-Tyr^c-J/J

000104 B6.Cg-Tyr^c-h/J

000054 B6.D2-Tyr^c-p/J

000899 C.B6-Tyr⁺ Hbb^s/J

000339 C3H/HeJ-Tyr^c-9J/J

001294 C3H/HeJ-Tyr^c-a/J

001002 C57BL/10SnJ-Tyr^c-11J/J

001006 CBA/J-Tyr^c-10J/J

000657 CE/J

007483 FVB.Cg-Tg(Tyr)3412ARpw Tg(Sry-EGFP)92Ei/EiJ

000494 J.Cg-Oca2⁺ Tyr⁺ Lyst^bg/J

002281 NFS.C58-Tyr⁺/J

004304 NOD.CBALs-Tyr⁺/LtJ

005115 NOD.FVB-Tg(INS-MT2A,Tyr)1Pne/PneJ

005114 NOD.FVB-Tg(Ins1-Cat,Tyr)25Pne/PneJ

001759 STOCK A Tyr^c Sha/J

000006 STOCK Hk Tyr^c/J

000206 STOCK a/a Tyr^c-h/J

View Strains carrying other alleles of Tyr (30 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

Tyr^c-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⁺ Tyr^c-ch-Aft/J*
Stock Number:	001279

Price Details

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Supply Details

Standard Supply	Repository-Cryopreserved. Must Be Recovered. Please refer to the 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.
Licensing	See General Terms and Conditions below
Control Information	View Control Information in Strain Details.

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.

Ordering and Purchasing Information

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Tel: 800.422.6423 or 207.288.5845
Fax: 207.288.6150
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Go to JAX^® Mice Query Form

000090	129S1/Sv-Oca2⁺ Tyr⁺ Kitl^Sl-J/J
000091	129T1/Sv-Oca2⁺ Tyr^c-ch Dnd1^Ter/J
000822	B6 x 129S1/SvEi Oca2⁺ Tyr⁺-Vsx2^or-J/J
000494	J.Cg-Oca2⁺ Tyr⁺ Lyst^bg/J

000091	129T1/Sv-Oca2⁺ Tyr^c-ch Dnd1^Ter/J
000578	B6 x STOCK Tyr^c-ch Bmp5^se +/+ Myo6^sv/J
000619	FS/EiJ
004828	FVB.129P2-Pde6b⁺ Tyr^c-ch/AntJ
000271	SH1/LeJ
000306	STOCK Dll3^pu + Tyr^c-ch/+ Oca2^p Tyr^c-ch/J

000004	ABP/LeJ
000577	B6 x STOCK a Oca2^p Hps5^ru2 Ednrb^s/J
001059	B6By.Cg-Oca2^p/J
002460	C3H/HeJ-Oca2^p-J Is(7;1)40H/J
000513	C3H/HeJ-Oca2^p-J/J
001136	C57BL/6J-Oca2^p-un+2J/J
001506	C57BL/6J-Oca2^p-un+3J/J
001810	C57BL/6J-Oca2^p-un+4J/J
001513	C57BL/6J-Oca2^p-un+5J/J
001499	C57BL/6J-Oca2^p-un+6J/J
001033	C57BL/6J-Oca2^p-un+J/J
000028	C57BL/6J-Oca2^p-un/J
000619	FS/EiJ
000306	STOCK Dll3^pu + Tyr^c-ch/+ Oca2^p Tyr^c-ch/J
001584	STOCK Oca2^p-J/Oca2^p-bs/J
001585	STOCK Oca2^p-d/Oca2^p-25H/J
000823	STOCK Oca2^p-d/Oca2^p-6H/J
001747	STOCK Oca2^p-d/Oca2^p-cp/J
001618	STOCK Oca2^p/Oca2^p Prop1^df/J

000090	129S1/Sv-Oca2⁺ Tyr⁺ Kitl^Sl-J/J
005445	A.B6 Tyr⁺-Cyba^nmf333/J
005012	A.B6 Tyr⁺-Myo5a^d-l31J/J
002565	A.B6-Tyr⁺/J
000409	B10.129P-H1^b Hbb^d Tyr^c Ea7^a/(5M)oSnJ
000418	B10.129P-H1^b Tyr^c Hbb^d/(5M)nSnJ
000432	B10.C-H1^b Hbb^d Tyr^c/(41N)SnJ
000580	B10.D2/nSn-Tyr^c-4J/J
000822	B6 x 129S1/SvEi Oca2⁺ Tyr⁺-Vsx2^or-J/J
000058	B6(Cg)-Tyr^c-2J/J
000383	B6.C-Tyr^c H1^b Hbb^d/ByJ
007484	B6.Cg-Tyr^c-2J Tg(Tyr)3412ARpw Tg(Sry-EGFP)92Ei/EiJ
000035	B6.Cg-Tyr^c-J/J
000104	B6.Cg-Tyr^c-h/J
000054	B6.D2-Tyr^c-p/J
000899	C.B6-Tyr⁺ Hbb^s/J
000339	C3H/HeJ-Tyr^c-9J/J
001294	C3H/HeJ-Tyr^c-a/J
001002	C57BL/10SnJ-Tyr^c-11J/J
001006	CBA/J-Tyr^c-10J/J
000657	CE/J
007483	FVB.Cg-Tg(Tyr)3412ARpw Tg(Sry-EGFP)92Ei/EiJ
000494	J.Cg-Oca2⁺ Tyr⁺ Lyst^bg/J
002281	NFS.C58-Tyr⁺/J
004304	NOD.CBALs-Tyr⁺/LtJ
005115	NOD.FVB-Tg(INS-MT2A,Tyr)1Pne/PneJ
005114	NOD.FVB-Tg(Ins1-Cat,Tyr)25Pne/PneJ
001759	STOCK A Tyr^c Sha/J
000006	STOCK Hk Tyr^c/J
000206	STOCK a/a Tyr^c-h/J

Strain Name:

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

Stock Number:

001279

Availability:

Repository-Cryopreserved

General Terms and Conditions

Product Information

Strain Details

Aft/Aft+

Aft/Aft+

Gene & Allele Details

Control Information

Related Strains

Additional Web Information

Research Applications

References

Price and Supply Information

Price Details

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Supply Details

General Terms and Conditions

The Jackson Laboratory's Genotype Promise

129T1/Sv-Oca2⁺ Tyr^c-ch-Aft/J

Aft/Aft⁺

Aft/Aft⁺