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 C57BL/6J-Matpuw Adamts20bt-2J/J    (Changed: 07-OCT-05 ) C57BL/6J-Matpuw Adamts20bt-2J/+ +/J    (Changed: 15-DEC-04 ) C57BL/6J-Matpuw bt2J/+ +    (Changed: 15-DEC-04 ) C57BL/6J-Matpuw bt2J/+ +/J    (Changed: 15-DEC-04 ) Type Coisogenic; Mutant Strain; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation N11p Generation Definitions

Description
Mice homozygous for the recessive Adamts20^bt-2J mutation have a dorsal and a ventral unpigmented patch posterior to the midline of the trunk with the dorsal patch usually being larger than the ventral patch. These patches run in a more transverse orientation across the mouse than lengthwise and often extend around the sides of the mouse to form a white belt.

Development
The underwhite mutation (Slc45a2^uw) arose spontaneously on the C57BL/6J background in 1962 at The Jackson Laboratory. The belted 2 Jackson (bt-2J) re-mutation of Adamts20 arose spontaneously on the C57BL/6J background in 1968 at The Jackson Laboratory. A female homozygous for Adamts20^bt-2J was bred with a male homozygous for Slc45a2^uw and this strain carrying both mutations was maintained primarily through sibling breeding but with one backcross to C57BL/6J each year. In approximately 1982 C57BL/6J females were bred with generation N10F1 double homozygous males to generate embryos for cryopreservation. These embryos are doubly heterozygous with both mutations on the same chromosome.

Control Information

	Control
	000664 C57BL/6J
Considerations for Choosing Controls

Related Strains

Strains carrying   Slc45a2^uw allele

000003

C57BL/6J-Slc45a2uw/J

View Strains carrying   Slc45a2^uw     (1 strain)

Strains carrying other alleles of Adamts20

000004

ABP/LeJ

View Strains carrying other alleles of Adamts20     (1 strain)

Strains carrying other alleles of Slc45a2

000977	B6.B10(PL)-Slc45a2Uw-dbr/J
002550	B6.TF-Slc45a2uw-d/J
019145	B6;CAST-Slc45a2uw-6J/GrsrJ
019114	C3H/HeJ-Slc45a2uw-7J/GrsrJ

View Strains carrying other alleles of Slc45a2     (4 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI

- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. Albinism, Oculocutaneous, Type IV; OCA4   (SLC45A2)

View Research Applications

Research Applications

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

Adamts20^bt-2J related

Cell Biology Research
Protein Processing

Dermatology Research
Color and White Spotting Defects

Slc45a2^uw related

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		Adamts20bt-2J
Allele Name		belted 2 Jackson
Allele Type		Spontaneous
Strain of Origin		C57BL/6J
Gene Symbol and Name		Adamts20, a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 20
Chromosome		15
Gene Common Name(s)		ADAM-TS20; ADAMTS-20; GON-1; belted; bt;
Allele Symbol		Slc45a2uw
Allele Name		underwhite
Allele Type		Spontaneous
Common Name(s)		uw;
Strain of Origin		C57BL/6J
Gene Symbol and Name		Slc45a2, solute carrier family 45, member 2
Chromosome		15
Gene Common Name(s)		1A1; AIM1; Aim-1; Dbr; MATP; Matp; SHEP5; blanc-sale; bls; dominant brown; membrane associated transporter protein; underwhite; uw;
Molecular Note		Molecular analysis reveals a 7 bp deletion in Exon 3, which results in a 43 amino acid frameshift followed by a premature stop at codon 308. The resulting protein lacks the C terminal 6 transmembrane domains. [MGI Ref ID J:73642]

Genotyping

Genotyping Information

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Du J; Fisher DE. 2002. Identification of Aim-1 as the underwhite mouse mutant and its transcriptional regulation by MITF. J Biol Chem 277(1):402-6. [PubMed: 11700328]  [MGI Ref ID J:73642]

Fukamachi S; Shimada A; Shima A. 2001. Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka. Nat Genet 28(4):381-5. [PubMed: 11479596]  [MGI Ref ID J:73518]

Rao C; Foernzler D; Loftus SK; Liu S; McPherson JD; Jungers KA; Apte SS; Pavan WJ; Beier DR. 2003. A defect in a novel ADAMTS family member is the cause of the belted white-spotting mutation. Development 130(19):4665-72. [PubMed: 12925592]  [MGI Ref ID J:84755]

Adamts20^bt-2J related

Silver DL; Hou L; Somerville R; Young ME; Apte SS; Pavan WJ. 2008. The secreted metalloprotease AMAMTS20 is required for melanoblast survival PLoS Genet 4(2):e1000003. [PubMed: 18454205]  [MGI Ref ID J:133403]

The Jackson Laboratory Office of Genetic Resources. 1961. Registry of Remutation at The Jackson Laboratory MGI Direct Data Submission :.  [MGI Ref ID J:84767]

Slc45a2^uw related

Chick WS; Mentzer SE; Carpenter DA; Rinchik EM; You Y. 2004. Modification of an existing chromosomal inversion to engineer a balancer for mouse chromosome 15. Genetics 167(2):889-95. [PubMed: 15238537]  [MGI Ref ID J:91142]

Cortese K; Giordano F; Surace EM; Venturi C; Ballabio A; Tacchetti C; Marigo V. 2005. The ocular albinism type 1 (OA1) gene controls melanosome maturation and size. Invest Ophthalmol Vis Sci 46(12):4358-64. [PubMed: 16303920]  [MGI Ref ID J:103788]

Dickie MM. 1964. Underwhite Mouse News Lett 30:30.  [MGI Ref ID J:13420]

Du J; Fisher DE. 2002. Identification of Aim-1 as the underwhite mouse mutant and its transcriptional regulation by MITF. J Biol Chem 277(1):402-6. [PubMed: 11700328]  [MGI Ref ID J:73642]

Lehman AL; Silvers WK; Puri N; Wakamatsu K; Ito S; Brilliant MH. 2000. The underwhite (uw) locus acts autonomously and reduces the production of melanin J Invest Dermatol 115(4):601-6. [PubMed: 10998130]  [MGI Ref ID J:64978]

Newton JM; Cohen-Barak O; Hagiwara N; Gardner JM; Davisson MT; King RA; Brilliant MH. 2001. Mutations in the Human Orthologue of the Mouse underwhite Gene (uw) Underlie a New Form of Oculocutaneous Albinism, OCA4. Am J Hum Genet 69(5):981-8. [PubMed: 11574907]  [MGI Ref ID J:72440]

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]

Swank RT; Reddington M; Howlett O; Novak EK. 1991. Platelet storage pool deficiency associated with inherited abnormalities of the inner ear in the mouse pigment mutants muted and mocha. Blood 78(8):2036-44. [PubMed: 1912584]  [MGI Ref ID J:29151]

Sweet HO; Brilliant MH; Cook SA; Johnson KR; Davisson MT. 1998. A new allelic series for the underwhite gene on mouse chromosome 15. J Hered 89(6):546-51. [PubMed: 9864865]  [MGI Ref ID J:41299]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls

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.

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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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