Strain Name:

C57BL/6J-Mitfmi-vit/J

Stock Number:

002134

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Research Strain

Mice homozygous for the vitiligo spontaneous mutation Mitfmi-vit are only mildly affected in eye size, pigmentation, and the capacity for secondary bone resorption compared to other Mitf alleles. Homozygous mutant mice have a lighter initial coat color than normal with extensive white spotting with eventual hair cycles resembling human vitiligo. Homozygotes exhibit uneven pigmentation of the retina and slow, progressive photoreceptor cell loss, eventually leading to blindness.

Description

Strain Information

Type Coisogenic; Mutant Strain; Spontaneous Mutation;
Additional information on Genetically Engineered and Mutant Mice.
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Mating SystemHomozygote x Homozygote         (Female x Male)   01-MAR-06
Specieslaboratory mouse

Appearance
black, white spotting with retinal degeneration
Related Genotype: a/a Mitfmi-vit/Mitfmi-vit

Description
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.

Development
This spontaneous recessive mutant occurred on C57BL/6J, and consists of a 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.

Control Information

  Control
   000664 C57BL/6J
 
  Considerations for Choosing Controls

Related Strains

View Strains carrying other alleles of Mitf     (12 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, Ocular, with Sensorineural Deafness   (MITF)
Melanoma, Cutaneous Malignant, Susceptibility to, 8; CMM8   (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
    • dorsally, abnormally multilayered at E12 to E13   (MGI Ref ID J:33910)
    • mosaic for hypopigmented and hyperpigmented cells   (MGI Ref ID J:33910)
    • cells of postnatal mice have abnormally short, compact, apical microvilli without melanosomes or connection to rod outer segments   (MGI Ref ID J:33910)
    • 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
    • from 8 weeks of age on, the number of white hairs inceases with successive molts   (MGI Ref ID J:14091)
    • by 6- 12 months of age, mice are nearly entirely white   (MGI Ref ID J:102101)
  • 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/body phenotype
  • fetal growth retardation   (MGI Ref ID J:33910)
  • nervous system phenotype
  • absent retinal cone cells
    • by 2 years of age, all cone cells are gone   (MGI Ref ID J:33910)
    • results are similar to early function abnormalities in human retinitis pigmentosa   (MGI Ref ID J:33910)
  • absent retinal rod cells
    • by 2 years of age, all rod cells are gone   (MGI Ref ID J:33910)
  • retinal photoreceptor degeneration
    • cell degeneration follows a radial gradient, more severe centrally and more advanced superiorly   (MGI Ref ID J:33910)
    • from 60 to 500 days of age photoreceptor nuclei progressively decrease in number, shedding into the subretinal space   (MGI Ref ID J:33910)
  • vision/eye phenotype
  • abnormal retinal pigment epithelium morphology
    • dorsally, abnormally multilayered at E12 to E13   (MGI Ref ID J:33910)
    • mosaic for hypopigmented and hyperpigmented cells   (MGI Ref ID J:33910)
    • cells of postnatal mice have abnormally short, compact, apical microvilli without melanosomes or connection to rod outer segments   (MGI Ref ID J:33910)
    • 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
    • by 2 years of age, all cone cells are gone   (MGI Ref ID J:33910)
    • results are similar to early function abnormalities in human retinitis pigmentosa   (MGI Ref ID J:33910)
  • 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
    • cell degeneration follows a radial gradient, more severe centrally and more advanced superiorly   (MGI Ref ID J:33910)
    • from 60 to 500 days of age photoreceptor nuclei progressively decrease in number, shedding into the subretinal space   (MGI Ref ID J:33910)
  • integument phenotype
  • abnormal hair follicle morphology
    • extracellular granular material found in amelanotic hair follicles   (MGI Ref ID J:102101)
  • absent coat pigmentation
    • from 8 weeks of age on, the number of white hairs inceases with successive molts   (MGI Ref ID J:14091)
    • by 6- 12 months of age, mice are nearly entirely white   (MGI Ref ID J:102101)
  • 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

Neurobiology Research
Hearing Defects

Sensorineural Research
Eye Defects
Hearing Defects
Retinal Degeneration

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Mitfmi-vit
Allele Name vitiligo
Allele Type Spontaneous
Common Name(s) Mitfmi-vitiligo; vit;
Strain of OriginC57BL/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]

Genotyping

Genotyping Information


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Mitfmi-vit related

Anderson 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]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Room Number           A1

Colony Maintenance

Mating SystemHomozygote x Homozygote         (Female x Male)   01-MAR-06

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


Pricing for USA, Canada and Mexico shipping destinations View International Pricing

Live Mice

Price per mouse (US dollars $)GenderGenotypes Provided
Individual Mouse $129.30Female or MaleHomozygous for Mitfmi-vit  
Price per Pair (US dollars $)Pair Genotype
$258.55Homozygous 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 View USA Canada and Mexico Pricing

Live Mice

Price per mouse (US dollars $)GenderGenotypes Provided
Individual Mouse $168.10Female or MaleHomozygous for Mitfmi-vit  
Price per Pair (US dollars $)Pair Genotype
$336.20Homozygous for Mitfmi-vit x Homozygous for Mitfmi-vit  

Standard Supply

Research Strain. Availability determined by The Jackson Laboratory scientist holding the strain.

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Research Strain. Availability determined by The Jackson Laboratory scientist holding the strain.

General Supply Notes

Control Information

  Control
   000664 C57BL/6J
 
  Considerations for Choosing Controls
  Control Pricing Information for Genetically Engineered Mutant Strains.
 

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