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Type Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation N2p
Generation DefinitionsDescription
Mutations at the Mitf locus affect eye size, pigmentation, and the capacity for secondary bone resorption.
Strains carrying other alleles of Mitf
000593 B6 x B6CBCa Aw-J/A-Grid2Lc T(2;6)7Ca MitfMi-wh/J 003046 B6(FVB)-MitfMi-Mee/J 000158 B6.Cg-MitfMi-wh/MitfMi/J 000184 B6.Cg-MitfMi-wh/Mitfmi-rw/J 000157 B6.Cg-MitfMi-wh/Mitfmi-sp/J 000057 B6.Cg-MitfMi-wh/J 000350 B6By.Cg-KitW-v MitfMi-wh T/J 001573 B6C3Fe a/a-MitfMi/J 000956 B6CB-Mitfmi-rw/J 002134 C57BL/6J-Mitfmi-vit/J 001253 STOCK MitfMi-wh +/+ Wnt7apx/J 000302 STOCK a/a MitfMi-wh +/+ Itpr1opt/J View Strains carrying other alleles of Mitf (12 strains)
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, Ocular, with Sensorineural Deafness (MITF)
Tietz Syndrome (MITF)
Waardenburg Syndrome, Type 2A; WS2A (MITF)
View Mammalian Phenotype Terms
Mammalian Phenotype Terms provided by MGI
assigned by genotype
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Mitfmi-bws/Mitfmi-bws
BKS.Cg-m+/+LeprdbView Research Applications
Research Applications
This mouse can be used to support research in many areas including:
Mitfmi-bws relatedInternal/Organ Research
Skeleton
Bone
Dermatology Research
Color and White Spotting Defects
Endocrine Deficiency Research
Bone/Bone Marrow Defects
Immunology, Inflammation and Autoimmunity Research
Immunodeficiency Associated with Other Defects
Mouse/Human Gene Homologs
Waardenburg syndrome, type IIA
Neurobiology Research
Hearing Defects
Sensorineural Research
Eye Defects
Hearing Defects
| Allele Symbol | Mitfmi-bws | ||
|---|---|---|---|
| Allele Name | black and white spotting | ||
| Allele Type | Spontaneous | ||
| Strain of Origin | BKS.Cg-m+/+Lepr | ||
| Gene Symbol and Name | Mitf, microphthalmia-associated transcription factor | ||
| Chromosome | 6 | ||
| Gene Common Name(s) | BCC2; CMM8; Gsfbcc2; MI; WS2; WS2A; bHLHe32; black eyed white; bw; gsf bright coat colour 2; mi; microphthalmia; vit; vitiligo; wh; | ||
| Molecular Note | This allele comprises a G to A transition 12 nucleotides upstream of the exon 2a splice acceptor site elimininating exon 2b in the encoded transcript. [MGI Ref ID J:62098] | ||
Deol MS. 1967. The neural crest and the acoustic ganglion. J Embryol Exp Morphol 17(3):533-41. [PubMed: 6049665] [MGI Ref ID J:5048]
Hodgkinson CA; Moore KJ; Nakayama A; Steingrimsson E; Copeland NG; Jenkins NA; Arnheiter H. 1993. Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein. Cell 74(2):395-404. [PubMed: 8343963] [MGI Ref ID J:13562]
Motohashi H; Hozawa K; Oshima T; Takeuchi T; Takasaka T. 1994. Dysgenesis of melanocytes and cochlear dysfunction in mutant microphthalmia (mi) mice. Hear Res 80(1):10-20. [PubMed: 7852195] [MGI Ref ID J:21682]
Raisz LG; Simmons HA; Gworek SC; Eilon G. 1977. Studies on congenital osteopetrosis in microphthalmic mice using organ cultures: impairment of bone resorption in response to physiologic stimulators. J Exp Med 145(4):857-65. [PubMed: 870607] [MGI Ref ID J:5804]
Steingrimsson E; Moore KJ; Lamoreux ML; Ferre-D'Amare AR; Burley SK; Zimring DC; Skow LC; Hodgkinson CA; Arnheiter H; Copeland NG; Jenkins NA. 1994. Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences [see comments] Nat Genet 8(3):256-63. [PubMed: 7874168] [MGI Ref ID J:21366]
Tachibana M; Perez-Jurado LA; Nakayama A; Hodgkinson CA; Li X; Schneider M; Miki T; Fex J; Francke U; Arnheiter H. 1994. Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14.1-p12.3. Hum Mol Genet 3(4):553-7. [PubMed: 8069297] [MGI Ref ID J:17853]
Mitfmi-bws relatedHallsson JH; Favor J; Hodgkinson C; Glaser T; Lamoreux ML; Magnusdottir R; Gunnarsson GJ; Sweet HO; Copeland NG; Jenkins NA; Steingrimsson E. 2000. Genomic, transcriptional and mutational analysis of the mouse microphthalmia locus. Genetics 155(1):291-300. [PubMed: 10790403] [MGI Ref ID J:62098]
Moller A; Eysteinsson T; Steingrimsson E. 2004. Electroretinographic assessment of retinal function in microphthalmia mutant mice. Exp Eye Res 78(4):837-48. [PubMed: 15037118] [MGI Ref ID J:88541]
Steingrimsson E; Arnheiter H; Hallsson JH; Lamoreux ML; Copeland NG; Jenkins NA. 2003. Interallelic complementation at the mouse mitf locus. Genetics 163(1):267-76. [PubMed: 12586714] [MGI Ref ID J:82600]
Sweet HO. 1996. Recessive spotting mutation mapped to the Mitfmi locus in chromosome 6 Mouse Genome 94:145. [MGI Ref ID J:45568]
Animal Health Reports
Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.
| Pricing for USA, Canada and Mexico shipping destinations |
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Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $3000.00 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 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 will fulfill 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 11 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 |
|
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $3900.00 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 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 will fulfill 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 11 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).
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Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
| phone: | 207-288-6470 |
| fax: | 207-288-6655 |
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