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Type Coisogenic; Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered Mutant Mice. Mating System Homozygote x Homozygote (Female x Male) 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 Mammalian Phenotype Terms
Mammalian Phenotype Terms
assigned by genotype
Mitfmi-vit/Mitfmi-vit
C57BL/6J-Mitfmi-vit
- pigmentation phenotype
- abnormal melanocyte morphology (MGI Ref ID J:102101)
- degenerative changes are prevalent
- abnormal retinal pigment epithelium morphology (MGI Ref ID J:33910)
- dorsally, abnormally multilayered at E12 to E13
- mosaic for hypopigmented and hyperpigmented cells
- cells of postnatal mice have abnormally short, compact, apical microvilli without melanosomes or connection to rod outer segments
- abnormal retinal pigmentation (MGI Ref ID J:33910)
- by 2 years of age, residual neural retina is invaded by heavily pigmented cells
- absent coat pigmentation (MGI Ref ID J:14091)
- from 8 weeks of age on, the number of white hairs inceases with successive molts
- by 6- 12 months of age, mice are nearly entirely white
- diluted coat color (MGI Ref ID J:14091)
- slightly less intense than nonagouti of C57BL/6J
- white skin spotting (MGI Ref ID J:102101)
- white spotting (MGI Ref ID J:14091)
- located on back,neck and entire abdomen
- skin/coat/nails phenotype
- abnormal hair follicle morphology (MGI Ref ID J:102101)
- extracellular granular material found in amelanotic hair follicles
- absent coat pigmentation (MGI Ref ID J:14091)
- from 8 weeks of age on, the number of white hairs inceases with successive molts
- by 6- 12 months of age, mice are nearly entirely white
- diluted coat color (MGI Ref ID J:14091)
- slightly less intense than nonagouti of C57BL/6J
- white skin spotting (MGI Ref ID J:102101)
- white spotting (MGI Ref ID J:14091)
- located on back,neck and entire abdomen
- 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 (MGI Ref ID J:33910)
- by 2 years of age, all cone cells are gone
- results are similar to early function abnormalities in human retinitis pigmentosa
- absent retinal rod cells (MGI Ref ID J:33910)
- by 2 years of age, all rod cells are gone
- retinal photoreceptor degeneration (MGI Ref ID J:33910)
- cell degeneration follows a radial gradient, more severe centrally and more advanced superiorly
- from 60 to 500 days of age photoreceptor nuclei progressively decrease in number, shedding into the subretinal space
- vision/eye phenotype
- abnormal retinal pigment epithelium morphology (MGI Ref ID J:33910)
- dorsally, abnormally multilayered at E12 to E13
- mosaic for hypopigmented and hyperpigmented cells
- cells of postnatal mice have abnormally short, compact, apical microvilli without melanosomes or connection to rod outer segments
- abnormal retinal pigmentation (MGI Ref ID J:33910)
- by 2 years of age, residual neural retina is invaded by heavily pigmented cells
- abnormal rod electrophysiology (MGI Ref ID J:33910)
- electroretinograms show a significant reduction of rod dominated maximum ERG a-wave and b-wave amplitude as early as 2 weeks of age
- absent retinal cone cells (MGI Ref ID J:33910)
- by 2 years of age, all cone cells are gone
- results are similar to early function abnormalities in human retinitis pigmentosa
- absent retinal rod cells (MGI Ref ID J:33910)
- by 2 years of age, all rod cells are gone
- retinal detachment (MGI Ref ID J:33910)
- more prominent than in most other retinal degenerations and begins as rod outer segments degenerate
- retinal photoreceptor degeneration (MGI Ref ID J:33910)
- cell degeneration follows a radial gradient, more severe centrally and more advanced superiorly
- from 60 to 500 days of age photoreceptor nuclei progressively decrease in number, shedding into the subretinal space
Mitfmi-vit/Mitfmi-vit
C57BL/6J-Mitfmi-vit/JView 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 and Inflammation Research
Immunodeficiency Associated with Other Defects
Mouse/Human Gene Homologs
Waardenburg syndrome, type IIA
Neurobiology Research
Vestibular and Hearing Defects
Sensorineural Research
Eye Defects
Retinal Degeneration
Vestibular and Hearing Defects
| 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) | MI; WS2A; bHLHe32; black eyed white; bw; 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] | ||
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Optimizing PCR Protocols
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 relatedBoissy 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. . 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)
| Pricing for USA, Canada and Mexico shipping destinations |
|
Weeks of Age Price* Gender Genotypes Provided Individual Mouse Price $94.30 Female or Male Homozygous for Mitfmi-vit *Price(s) in US dollars ($)
Pairs /Price* Pair Genotype $188.60 Homozygous for Mitfmi-vit x Homozygous for Mitfmi-vit
| Supply Notes |
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| Pricing for International shipping destinations |
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Weeks of Age Price* Gender Genotypes Provided Individual Mouse Price $122.60 Female or Male Homozygous for Mitfmi-vit *Price(s) in US dollars ($)
Pairs /Price* Pair Genotype $245.20 Homozygous for Mitfmi-vit x Homozygous for Mitfmi-vit
| Supply Notes |
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| Standard Supply | Repository-Live. A collection of over 1000 strains maintained as live colonies. Individual colonies are sized to meet current customer demand. Delivery for orders of 10 mice or less ranges on average from one to eight weeks; mice are generally shipped between four to six weeks of age with a maximum shipping age of ~nine weeks. Colony sizes do not generally support stringent age specifications for large volumes of mice; however custom orders and larger quantities of mice are easily arranged. Estimated ship dates for all orders provided within 48 hours of order placement. |
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| Supply Notes |
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| Control | ||
|---|---|---|
| 000664 C57BL/6J | ||
| 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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