Strain Name:

C57BL/6J-Mitfmi-vit/J

Stock Number:

002134

Availability:

Repository- Live

Description

Strain Information

Type Coisogenic; Mutant Strain; Spontaneous Mutation;
Additional information on Genetically Engineered Mutant Mice.
Mating SystemHomozygote x Homozygote         (Female x Male)
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.

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 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/J
  • pigmentation phenotype
  • diluted coat color (MGI Ref ID J:100658)
    • at 2 months of age mice have lighter pigment
  • skin/coat/nails phenotype
  • diluted coat color (MGI Ref ID J:100658)
    • at 2 months of age mice have lighter pigment
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 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

Genes & Alleles

Gene & Allele Information

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) 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]

Genotyping

Genotyping Information

This strain will not have a genotyping protocol or one is not currently available.

Helpful Links

Optimizing PCR Protocols

References

References

Additional References

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 related

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. . 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)

Purchasing information

Pricing, Supply Level & Notes, Controls, General Terms & Conditions

Pricing

Pricing for USA, Canada and Mexico shipping destinations View International pricing
Weeks of AgePrice*GenderGenotypes Provided
Individual Mouse Price $94.30Female or MaleHomozygous for Mitfmi-vit
Pairs /Price*Pair Genotype
$188.60Homozygous for Mitfmi-vit x Homozygous for Mitfmi-vit
*Price(s) in US dollars ($)

Additional Supply Details

Supply Notes

Pricing for International shipping destinations View USA Canada and Mexico pricing
Weeks of AgePrice*GenderGenotypes Provided
Individual Mouse Price $122.60Female or MaleHomozygous for Mitfmi-vit
Pairs /Price*Pair Genotype
$245.20Homozygous for Mitfmi-vit x Homozygous for Mitfmi-vit
*Price(s) in US dollars ($)

Additional Supply Details

Supply Notes

Supply Details

Standard SupplyRepository-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.
Supply Notes
  • Usually shipped between four and eight weeks of age.
  • This strain is included in the Eye Mutant Resource within the Mouse Mutant Resource collection.

Control Information

  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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