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Type Coisogenic; Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Mating System Homozygote x Homozygote (Female x Male) 01-MAR-06 Species laboratory mouse Appearance
black, white spotting with retinal degeneration
Related Genotype: a/a Mitfmi-vit/Mitfmi-vitDescription
Mutations at the Mitf locus affect eye size, pigmentation, and the capacity for secondary bone resorption. Mice homozygous for the vitiligo spontaneous mutation Mitfmi-vit are only mildly affected compared to other Mitf alleles. Homozygous mutant mice have a lighter initial coat color than normal with extensive white spotting. After eight weeks of age, the mice producing increasing numbers of white hairs with each hair cycles resembling human vitiligo. Homozygotes exhibit uneven pigmentation of the retina and slow, progressive photoreceptor cell loss, eventually leading to blindness.
| Control | ||
|---|---|---|
| 000664 C57BL/6J | ||
| Considerations for Choosing Controls | ||
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 002611 C57BL/6J-Mitfmi-bws/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
Mitfmi-vit/Mitfmi-vit
C57BL/6J-Mitfmi-vit
- pigmentation phenotype
- abnormal melanocyte morphology
- degenerative changes are prevalent (MGI Ref ID J:102101)
- abnormal retinal pigment epithelium morphology
- abnormal retinal pigmentation
- by 2 years of age, residual neural retina is invaded by heavily pigmented cells (MGI Ref ID J:33910)
- absent coat pigmentation
- diluted coat color
- slightly less intense than nonagouti of C57BL/6J (MGI Ref ID J:14091)
- variable depigmentation (MGI Ref ID J:102101)
- white spotting
- located on back,neck and entire abdomen (MGI Ref ID J:14091)
- immune system phenotype
- abnormal Langerhans cell physiology (MGI Ref ID J:102101)
- growth/size phenotype
- fetal growth retardation (MGI Ref ID J:33910)
- nervous system phenotype
- absent retinal cone cells
- absent retinal rod cells
- by 2 years of age, all rod cells are gone (MGI Ref ID J:33910)
- retinal photoreceptor degeneration
- vision/eye phenotype
- abnormal retinal pigment epithelium morphology
- abnormal retinal pigmentation
- by 2 years of age, residual neural retina is invaded by heavily pigmented cells (MGI Ref ID J:33910)
- abnormal rod electrophysiology
- electroretinograms show a significant reduction of rod dominated maximum ERG a-wave and b-wave amplitude as early as 2 weeks of age (MGI Ref ID J:33910)
- absent retinal cone cells
- absent retinal rod cells
- by 2 years of age, all rod cells are gone (MGI Ref ID J:33910)
- retinal detachment
- more prominent than in most other retinal degenerations and begins as rod outer segments degenerate (MGI Ref ID J:33910)
- retinal photoreceptor degeneration
- integument phenotype
- abnormal hair follicle morphology
- extracellular granular material found in amelanotic hair follicles (MGI Ref ID J:102101)
- absent coat pigmentation
- diluted coat color
- slightly less intense than nonagouti of C57BL/6J (MGI Ref ID J:14091)
- variable depigmentation (MGI Ref ID J:102101)
- white spotting
- located on back,neck and entire abdomen (MGI Ref ID J:14091)
Mitfmi-vit/Mitfmi-vit
C57BL/6J-Mitfmi-vit/J
- pigmentation phenotype
- abnormal iris pigmentation
- iris pigmentation is dispersed (MGI Ref ID J:141035)
- diluted coat color
- at 2 months of age mice have lighter pigment (MGI Ref ID J:100658)
- vision/eye phenotype
- abnormal iris pigmentation
- iris pigmentation is dispersed (MGI Ref ID J:141035)
- integument phenotype
- diluted coat color
- at 2 months of age mice have lighter pigment (MGI Ref ID J:100658)
View Research Applications
Research Applications
This mouse can be used to support research in many areas including:Mitfmi-vit related
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
Retinal Degeneration
| Allele Symbol | Mitfmi-vit | ||
|---|---|---|---|
| Allele Name | vitiligo | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | Mitfmi-vitiligo; vit; | ||
| Strain of Origin | C57BL/6J | ||
| 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; | ||
| General Note | Mitfmi-vit homozygotes show a slow progressive loss of photoreceptor cells, cosegregating with the gradual depigmentation (J:28910). Details of the degenerative process have been studied extensively (J:25135). | ||
| Molecular Note | G to A transition at bp 793 that leads to an aspartate to asparagine substitution at the corresponding amino acid (222) in the encoded protein. This mutation is in the helix 1 region of the protein. [MGI Ref ID J:21366] | ||
Chang B; Hawes NL; Hurd RE; Davisson MT; Nusinowitz S; Heckenlively JR. 2002. Retinal degeneration mutants in the mouse. Vision Res 42(4):517-25. [PubMed: 11853768] [MGI Ref ID J:75095]
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-vit relatedAnderson MG; Hawes NL; Trantow CM; Chang B; John SW. 2008. Iris phenotypes and pigment dispersion caused by genes influencing pigmentation. Pigment Cell Melanoma Res 21(5):565-78. [PubMed: 18715234] [MGI Ref ID J:141035]
Boissy RE; Moellmann GE; Lerner AB. 1987. Morphology of melanocytes in hair bulbs and eyes of vitiligo mice. Am J Pathol 127(2):380-8. [PubMed: 3578491] [MGI Ref ID J:102101]
Bora N; Conway SJ; Liang H; Smith SB. 1998. Transient overexpression of the Microphthalmia gene in the eyes of Microphthalmia vitiligo mutant mice. Dev Dyn 213(3):283-92. [PubMed: 9825864] [MGI Ref ID J:50809]
Bora N; Defoe D; Smith SB. 1999. Evidence of decreased adhesion between the neural retina and retinal pigmented epithelium of the Mitfvit (vitiligo) mutant mouse. Cell Tissue Res 295(1):65-75. [PubMed: 9931354] [MGI Ref ID J:52104]
Chang B; Hawes NL; Hurd RE; Davisson MT; Nusinowitz S; Heckenlively JR. 2002. Retinal degeneration mutants in the mouse. Vision Res 42(4):517-25. [PubMed: 11853768] [MGI Ref ID J:75095]
Duncan T; Swint C; Smith SB; Wiggert BN. 1999. Levels of retinoic acid and retinaldehyde dehydrogenase expression in eyes of the Mitf-vit mouse model of retinal degeneration. Mol Vis 5:9. [PubMed: 10385706] [MGI Ref ID J:57216]
Evans BL; Smith SB. 1997. Analysis of esterification of retinoids in the retinal pigmented epithelium of the Mitf-vit (vitiligo) mutant mouse. Mol Vis 3:11. [PubMed: 9383334] [MGI Ref ID J:45737]
Gelineau-van Waes J; Smith L; van Waes M; Wilberding J; Eudy JD; Bauer LK; Maddox J. 2008. Altered expression of the iron transporter Nramp1 (Slc11a1) during fetal development of the retinal pigment epithelium in microphthalmia-associated transcription factor Mitf(mi) and Mitf(vitiligo) mouse mutants. Exp Eye Res 86(2):419-33. [PubMed: 18191835] [MGI Ref ID J:132493]
Hansdottir AG; Palsdottir K; Favor J; Neuhauser-Klaus A; Fuchs H; de Angelis MH; Steingrimsson E. 2004. The novel mouse microphthalmia mutations Mitfmi-enu5 and Mitfmi-bcc2 produce dominant negative Mitf proteins. Genomics 83(5):932-5. [PubMed: 15081122] [MGI Ref ID J:89276]
Kosaras B; Rosario C; Ruiz M; Sidman R; Tang M; Wertheim S. 1992. Vitiligo (mivit) linkage and retinal abnormalities Mouse Genome 90(3):421. [MGI Ref ID J:2589]
Kosaras B; Sidman RL. 1996. Phagosome number and distribution in retinal pigment epithelial cells of vitiligo mutant mice. Exp Eye Res 63(2):151-8. [PubMed: 8983972] [MGI Ref ID J:37937]
Kurita K; Nishito M; Shimogaki H; Takada K; Yamazaki H; Kunisada T. 2005. Suppression of progressive loss of coat color in microphthalmia-vitiligo mutant mice. J Invest Dermatol 125(3):538-44. [PubMed: 16117796] [MGI Ref ID J:100658]
Lamoreux ML; Boissy RE; Womack JE; Nordlund JJ. 1992. The vit gene maps to the mi (microphthalmia) locus of the laboratory mouse. J Hered 83(6):435-9. [PubMed: 1460250] [MGI Ref ID J:3383]
Lerner AB. 1986. Vitiligo (vit). Mouse News Lett 74:125. [MGI Ref ID J:14091]
Lerner AB; Shiohara T; Boissy RE; Jacobson KA; Lamoreux ML; Moellmann GE. 1986. A mouse model for vitiligo. J Invest Dermatol 87(3):299-304. [PubMed: 3525691] [MGI Ref ID J:102100]
Morii E; Ito A; Jippo T; Koma Y; Oboki K; Wakayama T; Iseki S; Lamoreux ML; Kitamura Y. 2004. Number of mast cells in the peritoneal cavity of mice: influence of microphthalmia transcription factor through transcription of newly found mast cell adhesion molecule, spermatogenic immunoglobulin superfamily. Am J Pathol 165(2):491-9. [PubMed: 15277223] [MGI Ref ID J:91476]
Nir I; Ransom N; Smith SB. 1995. Ultrastructural features of retinal dystrophy in mutant vitiligo mice. Exp Eye Res 61(3):363-77. [PubMed: 7556499] [MGI Ref ID J:29290]
Nishimura EK; Granter SR; Fisher DE. 2005. Mechanisms of hair graying: incomplete melanocyte stem cell maintenance in the niche. Science 307(5710):720-4. [PubMed: 15618488] [MGI Ref ID J:96016]
Sidman RL; Kosaras B; Tang M. 1996. Pigment epithelial and retinal phenotypes in the vitiligo mivit, mutant mouse. Invest Ophthalmol Vis Sci 37(6):1097-115. [PubMed: 8631625] [MGI Ref ID J:33910]
Sidman RL; Neumann P. 1988. Vitiligo: a new retinal degeneration mutation Mouse News Lett 81:60. [MGI Ref ID J:14141]
Smith SB. 1995. Evidence of a difference in photoreceptor cell loss in the peripheral versus posterior regions of the vitiligo (C57BL/6J-mi(vit)/mi(vit)) mouse retina [letter; comment] Exp Eye Res 60(3):333-6. [PubMed: 7789413] [MGI Ref ID J:25135]
Smith SB; Bora N; McCool D; Kutty G; Wong P; Kutty RK; Wiggert B. 1995. Photoreceptor cells in the vitiligo mouse die by apoptosis. TRPM-2/clusterin expression is increased in the neural retina and in the retinal pigment epithelium. Invest Ophthalmol Vis Sci 36(11):2193-201. [PubMed: 7558712] [MGI Ref ID J:29729]
Smith SB; Brodjian S; Desai S; Sarthy V. 1997. Glial fibrillary acidic protein (GFAP) is synthesized in the early stages of the photoreceptor cell degeneration of the mivit/mivit (vitiligo) mouse [letter] Exp Eye Res 64(4):645-50. [PubMed: 9227283] [MGI Ref ID J:42651]
Smith SB; Cope BK; McCoy JR; McCool DJ; Defoe DM. 1994. Reduction of phagosomes in the vitiligo (C57BL/6-mivit/mivit) mouse model of retinal degeneration. Invest Ophthalmol Vis Sci 35(10):3625-32. [PubMed: 8088952] [MGI Ref ID J:20943]
Smith SB; Defoe DM. 1995. Autoradiographic and biochemical assessment of rod outer segment renewal in the vitiligo (C57BL/6-mivit/mivit) mouse model of retinal degeneration. Exp Eye Res 60(1):91-6. [PubMed: 7720808] [MGI Ref ID J:23374]
Smith SB; Hamasaki DI. 1994. Electroretinographic study of the C57BL/6-mivit/mivit mouse model of retinal degeneration. Invest Ophthalmol Vis Sci 35(7):3119-23. [PubMed: 8206731] [MGI Ref ID J:19584]
Smith SB; McClung J; Wiggert BN; Nir I. 1997. Delayed rhodopsin regeneration and altered distribution of interphotoreceptor retinoid binding protein (IRBP) in the mi(vit)/mi(vit) (vitiligo) mouse. J Neurocytol 26(9):605-13. [PubMed: 9352446] [MGI Ref ID J:43646]
Smith SB; McCool DJ. 1995. Slow progressive loss of photoreceptor cells in vitiligo mice co-segregates with gradual depigmentation of the pelage Mouse Genome 93(3):871-3. [MGI Ref ID J:28910]
Smith SB; Zhou BK; Orlow SJ. 1998. Expression of tyrosinase and the tyrosinase related proteins in the Mitfvit (vitiligo) mouse eye: implications for the function of the microphthalmia transcription factor. Exp Eye Res 66(4):403-10. [PubMed: 9593634] [MGI Ref ID J:47851]
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]
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]
Sundberg JP (ed.). 1994. Handbook of Mouse Mutations with Skin and Hair Abnormalities: Animal Models and Biomedical Tools. In: Handbook of Mouse Mutations with Skin and Hair Abnormalities: Animal Models and Biomedical Tools. CRC Press, Boca Raton. [MGI Ref ID J:30359]
Tang M; Pawlyk BS; Kosaras B; Berson EL; Sidman RL. 1997. ERG abnormalities in relation to histopathologic findings in vitiligo mutant mice. Exp Eye Res 65(2):215-22. [PubMed: 9268589] [MGI Ref ID J:102251]
Tang M; Ruiz M; Kosaras B; Sidman RL. 1996. Increased cell genesis in retinal pigment epithelium of perinatal vitiligo mutant mice. Invest Ophthalmol Vis Sci 37(6):1116-24. [PubMed: 8631626] [MGI Ref ID J:33911]
Animal Health Reports
Room Number A1
Colony Maintenance
Mating System Homozygote x Homozygote (Female x Male) 01-MAR-06
| Pricing for USA, Canada and Mexico shipping destinations |
|
Price per mouse (US dollars $) Gender Genotypes Provided Individual Mouse $116.20 Female or Male Homozygous for Mitfmi-vit
Price per Pair (US dollars $) Pair Genotype $232.40 Homozygous for Mitfmi-vit x Homozygous for Mitfmi-vit Standard Supply
Research Strain. Availability determined by The Jackson Laboratory scientist holding the strain.
| Pricing for International shipping destinations |
|
Price per mouse (US dollars $) Gender Genotypes Provided Individual Mouse $151.10 Female or Male Homozygous for Mitfmi-vit
Price per Pair (US dollars $) Pair Genotype $302.20 Homozygous for Mitfmi-vit x Homozygous for Mitfmi-vit Standard Supply
Research Strain. Availability determined by The Jackson Laboratory scientist holding the strain.
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Research Strain. Availability determined by The Jackson Laboratory scientist holding the strain.
| Control | ||
|---|---|---|
| 000664 C57BL/6J | ||
| Considerations for Choosing Controls | ||
| Control Pricing Information for Genetically Engineered Mutant Strains. | ||
| phone: | 207-288-6470 |
| fax: | 207-288-6655 |
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