| |||||||||||
- Description
- Phenotype
- Genes & alleles
- Genotyping
- Health & husbandry
- References
- Purchasing information
- Terms of Use
Description
Strain Information
Former Names B6C3Fe a/a-Mitfmi (Changed: 15-DEC-04 ) B6C3Fe-a/a-Mitfmi (Changed: 15-DEC-04 ) Type Mutant Stock; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Mating System Ovarian Transplant-Cross-Intercross (Female x Male) 01-MAR-06 TJL Breeding Summary: ovarian transplant from homozygote x B6C3Fe a/a F1 then obligate heterozygote x obligate heterozygote Species laboratory mouse Generation N34F1 (22-DEC-08) Appearance
albino, small eyes
Related Genotype: a/a MitfMi/MitfMi
black
Related Genotype: a/a MitfMi/+ or a/a +/+
black with white spotting
Related Genotype: some a/a MitfMi/+Description
Mutations at the Mitf locus affect eye size, pigmentation, and the capacity for secondary bone resorption. Mice heterozygous for the MitfMi mutation have less iris pigment than wildtype and often have white spotting on the belly, head, and tail. Homozygous mutant mice have small eyes and are devoid of pigment in the eyes, inner ear, and skin. Homozygotes are deaf at an early age. There is a decrease of mast cells in the spleen and gut. Most homozygotes die around weaning but some may live for several months. There is a deficiency of secondary bone resorption (osteopetrosis) and the incisors fail to erupt. Immunological defects include decreased macrophage chemotactic responses, impaired proliferative responses to B cell and T cell mitogens, diminished responses in vitro to T-dependent and T-independent antigens and reduced NK cell activity.Development
The semi-dominant mutation microphthalmia (MitfMi) was found among descendants of an irradiated male by Hertwig before 1942. It was sent to Dr. E.S. Russell at The Jackson Laboratory from Dr. Hans Gruneberg in 1961. It was maintained with the dominant allele MitfMi-wh and crossed to C57BL/6J as MitfMi-wh/MitfMi each N generation until 1986 at N100. It was then backcrossed to C57BL/6J without MitfMi-wh to N105. A cross was then made of a host female bearing a C57BL/6J-MitfMi homozygous ovary to a C3HeB/FeJ-a/a male. The strain was then maintained by mating to the hybrid B6C3Fe-a/a each cross generation and mating the offspring each intercross generation.
Control Information
| Control | ||
|---|---|---|
| Untyped from the colony | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying MitfMi allele
000158 B6.Cg-MitfMi-wh/MitfMi/J View Strains carrying MitfMi (1 strain)
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 000956 B6CB-Mitfmi-rw/J 002611 C57BL/6J-Mitfmi-bws/J 002134 C57BL/6J-Mitfmi-vit/J 001253 STOCK MitfMi-wh +/+ Wnt7apx/J 000302 STOCK a/a MitfMi-wh +/+ Itpr1opt/J
Phenotype
Phenotype Information
Albinism, Ocular, with Sensorineural Deafness - Models with phenotypic similarity to human disease where etiologies involve orthologs.1 Tietz Syndrome - Models with phenotypic similarity to human disease where etiologies involve orthologs.1 Waardenburg Syndrome, Type IIA; WS2A - Models with phenotypic similarity to human disease where etiologies involve orthologs.1
1 Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
assigned by genotype
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
MitfMi/Mitf+
Background Not Specified
- pigmentation phenotype
- abnormal iris stromal pigmentation (MGI Ref ID J:30758)
- less iris pigment than normal
- white spotting (MGI Ref ID J:30758)
- white regions on tail
- skin/coat/nails phenotype
- white spotting (MGI Ref ID J:30758)
- white regions on tail
- vision/eye phenotype
- abnormal iris stromal pigmentation (MGI Ref ID J:30758)
- less iris pigment than normal
MitfMi/MitfMi
Background Not Specified
- lethality-postnatal
- postnatal lethality (MGI Ref ID J:30758)
- most die at weaning but infrequently some live several months
- pigmentation phenotype
- abnormal retinal pigment epithelium morphology (MGI Ref ID J:5046)
- at E10.5 the pigment layer is thicker than in control littermates and this is more prominent dorsally where the layer is irregular
- at E11.5, this layer is a thickened monolayer ventrally and an irregular multilayered structure dorsally
- at E11.5 layer thickness is increased and dorsal regions are particularly thickened and wavy
- at P0, the ventral and ventral lateral portions of the layer are mainly a cuboidal monolayer while the dorsal and dorsal-lateral areas are composed of columnar cells in irregular multiple layers
- at P0 folds are present
- at all stages the mitotic values in the pigment layer is increased compared to controls
- abnormal retinal pigmentation (MGI Ref ID J:5046)
- complete absence of pigment granules at E11.5 and at P0
- absent coat pigmentation (MGI Ref ID J:30758)
- reduced eye pigmentation (MGI Ref ID J:30758)
- skeleton phenotype
- abnormal osteoclast morphology (MGI Ref ID J:5046)
- cells are smaller, rounder, and contain fewer nuclei than in heterozygous controls
- the ratio of regular to irregular nuclei is significantly greater in homozygotes compared to heterozygous controls
- cells contain greater amounts of cytoplasmic basophilia and cytoplasmic RNA compared to heterozygous controls
- increased osteoclast cell number (MGI Ref ID J:5046)
- increase in the number of osteoclasts on the parietal bones of most homozygotes at P0, P3, P7.5 and P10 compared to heterozygous controls
- osteopetrosis (MGI Ref ID J:30758)
- probable defect is in progenitor osteoclasts and can be transmitted via transplanted spleen and bone marrow cells
- cells show defects in function and hormone response and fusion disability
- vision/eye phenotype
- abnormal ciliary body morphology (MGI Ref ID J:5046)
- thicker and less folded than in control littermates at P0
- abnormal eye development (MGI Ref ID J:5046)
- at E10.5 - E12 the average number of mitoses in the nervous layer of the retina is increased1.2 to 1.4 times compared to controls; however unlike in controls the number of mitoses does not increase from E14 - E16
- at all stages the mitotic values in the pigment layer is increased compared to controls
- abnormal optic cup morphology (MGI Ref ID J:5046)
- arching of the cup is reduced and the medial-lateral diameter is increased at E10.5
- abnormal morphology persists through E11.5
- at P0 the cup is poorly arched around the lens
- abnormal optic stalk morphology (MGI Ref ID J:5046)
- increased diameter of the stalk at E10.5
- abnormal morphology persists through E11.5
- optic stalk is still present at E14, E16, and P0 when in control littermates it is nearly or completely absent
- coloboma (MGI Ref ID J:5046)
- at E16, the optic canal is open to the brain and this coloboma extends along the entire ventral surface of the optic cup and optic stalk
- in anterior regions the edges of the coloboma do not meet while in ventral regions the edges overlap
- at P0, the coloboma is wider at its anterior edge with overlapping edges in the posterior region and inversion of the pigmented layer is seen along one or both edges
- abnormal posterior eye segment morphology (MGI Ref ID J:5046)
- the lens fills the space normally occupied by the vitreous body
- abnormal choroid morphology (MGI Ref ID J:5046)
- remains open at E12 and in areas along the edges inversion of the pigment epithelium is seen
- abnormal retinal neuronal layer morphology (MGI Ref ID J:5046)
- the nervous layer is irregular in thickness, folded and the strata are less clearly defined
- at E10.5 - E12 the average number of mitoses in the nervous layer of the retina is increased1.2 to 1.4 times compared to controls; however unlike in controls the number of mitoses does not increase from E14 - E16
- abnormal retinal pigment epithelium morphology (MGI Ref ID J:5046)
- at E10.5 the pigment layer is thicker than in control littermates and this is more prominent dorsally where the layer is irregular
- at E11.5, this layer is a thickened monolayer ventrally and an irregular multilayered structure dorsally
- at E11.5 layer thickness is increased and dorsal regions are particularly thickened and wavy
- at P0, the ventral and ventral lateral portions of the layer are mainly a cuboidal monolayer while the dorsal and dorsal-lateral areas are composed of columnar cells in irregular multiple layers
- at P0 folds are present
- at all stages the mitotic values in the pigment layer is increased compared to controls
- abnormal retinal pigmentation (MGI Ref ID J:5046)
- complete absence of pigment granules at E11.5 and at P0
- absent optic nerve (MGI Ref ID J:5046)
- at P0, the optic canal is open and nerve fibers pass toward the brain along the optic stalk; however, no defined optic nerve is present
- microphthalmia (MGI Ref ID J:30758)
- first detectable at E14, becoming more obvious with age
- reduced eye pigmentation (MGI Ref ID J:30758)
- immune system phenotype
- abnormal osteoclast morphology (MGI Ref ID J:5046)
- cells are smaller, rounder, and contain fewer nuclei than in heterozygous controls
- the ratio of regular to irregular nuclei is significantly greater in homozygotes compared to heterozygous controls
- cells contain greater amounts of cytoplasmic basophilia and cytoplasmic RNA compared to heterozygous controls
- increased osteoclast cell number (MGI Ref ID J:5046)
- increase in the number of osteoclasts on the parietal bones of most homozygotes at P0, P3, P7.5 and P10 compared to heterozygous controls
- decreased mast cell number (MGI Ref ID J:6889)
- deficiency in gut and liver
- skin/coat/nails phenotype
- absent coat pigmentation (MGI Ref ID J:30758)
- nervous system phenotype
- absent optic nerve (MGI Ref ID J:5046)
- at P0, the optic canal is open and nerve fibers pass toward the brain along the optic stalk; however, no defined optic nerve is present
- craniofacial phenotype
- failure of tooth eruption (MGI Ref ID J:30758)
- incisors fail to erupt
- hematopoietic system phenotype
- abnormal osteoclast morphology (MGI Ref ID J:5046)
- cells are smaller, rounder, and contain fewer nuclei than in heterozygous controls
- the ratio of regular to irregular nuclei is significantly greater in homozygotes compared to heterozygous controls
- cells contain greater amounts of cytoplasmic basophilia and cytoplasmic RNA compared to heterozygous controls
- increased osteoclast cell number (MGI Ref ID J:5046)
- increase in the number of osteoclasts on the parietal bones of most homozygotes at P0, P3, P7.5 and P10 compared to heterozygous controls
- decreased mast cell number (MGI Ref ID J:6889)
- deficiency in gut and liver
MitfMi/MitfMi
B6.Cg-MitfMi
- immune system phenotype
- abnormal mast cell physiology (MGI Ref ID J:53161)
- serotonin concentrations in cultured mast cells are lower than in wild-type cells
- cultured mast cells exhibit no cytotoxicity towards YAC-1 cells unlike wild-type mast cells
- homeostasis/metabolism phenotype
- abnormal serotonin level (MGI Ref ID J:53161)
- serotonin concentrations in cultured mast cells are lower than in wild-type cells
This mouse can be used to support research in many areas including:MitfMi related
Dermatology Research
Color and White Spotting Defects
Developmental Biology Research
Neural Crest Defects
Skeletal Defects
osteopetrosis
Endocrine Deficiency Research
Bone/Bone Marrow Defects
Hematological Research
Mast Cell Deficiency
osteopetrosis
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
Vestibular and Hearing Defects
Genes & Alleles
Gene & Allele Information
| Allele Symbol | MitfMi | ||
|---|---|---|---|
| Allele Name | microphthalmia | ||
| Allele Type | Not Specified | ||
| Common Name(s) | m; mi; | ||
| 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 |
This mutation produces an osteopetrosis that resembles human osteopetrosis more than that produced by Ctsfop. MitfMi mutant mice have normal levels of M-CSF and its receptor. Osteoplasts are produced, but are unable to function normally in bone resorption (J:22788). Combination heterozygotes of MitfMi-wh/MitfMi show some interallelic complementation in that the heterozygote of the two alleles is more nearly normal than either homozygote (J:12967). MitfMi-Or/MitfMi mice resemble homozygous MitfMi-Or (J:15060). | ||
| Molecular Note | This mutation was identified during an irradiation experiment, but it is not known whether it was induced in the treated male or spontaneously arose in an untreated mate. RT-PCR analysis identified a 3 nucleotide deletion in the transcript that results in a loss of one of four conserved arginine residues in the basic domain of the encoded protein. This mutation is predicted to affect the ability of the protein to bind DNA. [MGI Ref ID J:13562] | ||
| Allele Symbol | a | ||
| Allele Name | nonagouti | ||
| Allele Type | Spontaneous | ||
Genotyping
Genotyping Information
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Genotyping resources and troubleshooting
References
References
Additional References
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]
Luchin A; Suchting S; Merson T; Rosol TJ; Hume DA; Cassady AI; Ostrowski MC. 2001. Genetic and physical interactions between Microphthalmia transcription factor and PU.1 are necessary for osteoclast gene expression and differentiation. J Biol Chem 276(39):36703-10. [PubMed: 11481336] [MGI Ref ID J:71813]
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]
Potterf SB; Mollaaghababa R; Hou L; Southard-Smith EM; Hornyak TJ; Arnheiter H; Pavan WJ. 2001. Analysis of sox10 function in neural crest-derived melanocyte development: sox10-dependent transcriptional control of dopachrome tautomerase. Dev Biol 237(2):245-57. [PubMed: 11543611] [MGI Ref ID J:71587]
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]
Tagaya H; Kunisada T; Yamazaki H; Yamane T; Tokuhisa T; Wagner EF; Sudo T; Shultz LD; Hayashi SI. 2000. Intramedullary and extramedullary B lymphopoiesis in osteopetrotic mice. Blood 95(11):3363-70. [PubMed: 10828017] [MGI Ref ID J:82593]
MitfMi relatedBismuth K; Skuntz S; Hallsson JH; Pak E; Dutra AS; Steingrimsson E; Arnheiter H. 2008. An unstable targeted allele of the mouse mitf gene with a high somatic and germline reversion rate. Genetics 178(1):259-72. [PubMed: 18202372] [MGI Ref ID J:130168]
Bumsted KM; Barnstable CJ. 2000. Dorsal retinal pigment epithelium differentiates as neural retina in the microphthalmia (mi/mi) mouse. Invest Ophthalmol Vis Sci 41(3):903-8. [PubMed: 10711712] [MGI Ref ID J:60735]
Bumsted KM; Rizzolo LJ; Barnstable CJ. 2001. Defects in the MITF(mi/mi) apical surface are associated with a failure of outer segment elongation. Exp Eye Res 73(3):383-92. [PubMed: 11520113] [MGI Ref ID J:115620]
Cicero SA; Johnson D; Reyntjens S; Frase S; Connell S; Chow LM; Baker SJ; Sorrentino BP; Dyer MA. 2009. Cells previously identified as retinal stem cells are pigmented ciliary epithelial cells. Proc Natl Acad Sci U S A 106(16):6685-90. [PubMed: 19346468] [MGI Ref ID J:148343]
Coles BL; Horsford DJ; McInnes RR; van der Kooy D. 2006. Loss of retinal progenitor cells leads to an increase in the retinal stem cell population in vivo. Eur J Neurosci 23(1):75-82. [PubMed: 16420417] [MGI Ref ID J:105261]
Dastych J; Chroscielewska M; Michon T; Wyczolkowska J. 1999. Histamine content and mast cell number in tissues of mutant mice of (mi/mi) genotype. Inflamm Res 48 Suppl 1:S31-2. [PubMed: 10350149] [MGI Ref ID J:57201]
Doi T; Abe S; Ide Y. 2003. Masticatory function and properties of masseter muscle fibers in microphthalmic (mi/mi) mice during postnatal development. Ann Anat 185(5):435-40. [PubMed: 14575270] [MGI Ref ID J:102550]
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]
Gruneberg H. 1971. Exocrine glands and the Chievitz organ of some mouse mutants. J Embryol Exp Morphol 25(2):247-61. [PubMed: 5088022] [MGI Ref ID J:140462]
Gruneberg H. 1948. Some observations on the microphthalmia gene in the mouse. J Genet 49:1-13. [MGI Ref ID J:13036]
Gruneberg H. 1953. The relations of microphthalmia and white in the mouse. J Genet 51:359-362. [MGI Ref ID J:13042]
Gruneberg H. 1952. . In: The Genetics of the Mouse. Martinus Nijhoff, The Hague. [MGI Ref ID J:30758]
Guimond MJ; Wang B; Fujita J; Terhorst C; Croy BA. 1996. Pregnancy-associated uterine granulated metrial gland cells in mutant and transgenic mice. Am J Reprod Immunol 35(6):501-9. [PubMed: 8792932] [MGI Ref ID J:113082]
Hagiyama M; Ichiyanagi N; Kimura KB; Murakami Y; Ito A. 2009. Expression of a soluble isoform of cell adhesion molecule 1 in the brain and its involvement in directional neurite outgrowth. Am J Pathol 174(6):2278-89. [PubMed: 19435791] [MGI Ref ID J:148763]
Hero I; Farjah M; Scholtz CL. 1992. The effect of the microphthalmia gene on pre-natal optic nerve development in the mouse. Exp Eye Res 54(2):161-71. [PubMed: 1559545] [MGI Ref ID J:2773]
Hertwig P. 1942. Neue Mutationen und Koppelungsgruppen bei der Hausmaus Z Indukt Abstamm Vererbungsl 80:220-246. [MGI Ref ID J:208]
Hilbig H; Winkelmann E. 1994. Aberrant visual pathways in microphthalmic mice. J Hirnforsch 35(3):397-404. [PubMed: 7983371] [MGI Ref ID J:22569]
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]
Hollander WF. 1968. Complementary alleles at the mi-locus in the mouse. Genetics 60:189. [MGI Ref ID J:12967]
Hornyak TJ; Hayes DJ; Chiu L; Ziff EB. 2001. Transcription factors in melanocyte development: distinct roles for Pax-3 and Mitf. Mech Dev 101(1-2):47-59. [PubMed: 11231058] [MGI Ref ID J:68168]
Horsford DJ; Nguyen MT; Sellar GC; Kothary R; Arnheiter H; McInnes RR. 2005. Chx10 repression of Mitf is required for the maintenance of mammalian neuroretinal identity. Development 132(1):177-87. [PubMed: 15576400] [MGI Ref ID J:94374]
Isozaki K; Tsujimura T; Nomura S; Morii E; Koshimizu U; Nishimune Y; Kitamura Y. 1994. Cell type-specific deficiency of c-kit gene expression in mutant mice of mi/mi genotype. Am J Pathol 145(4):827-36. [PubMed: 7524330] [MGI Ref ID J:20877]
Ito A; Jippo T; Wakayama T; Morii E; Koma Y; Onda H; Nojima H; Iseki S; Kitamura Y. 2003. SgIGSF: a new mast-cell adhesion molecule used for attachment to fibroblasts and transcriptionally regulated by MITF. Blood 101(7):2601-8. [PubMed: 12456501] [MGI Ref ID J:115530]
Ito A; Kataoka TR; Kim DK; Koma Y; Lee YM; Kitamura Y. 2001. Inhibitory effect on natural killer activity of microphthalmia transcription factor encoded by the mutant mi allele of mice. Blood 97(7):2075-83. [PubMed: 11264174] [MGI Ref ID J:68425]
Ito A; Morii E; Kim DK; Kataoka TR; Jippo T; Maeyama K; Nojima H ; Kitamura Y. 1999. Inhibitory effect of the transcription factor encoded by the mi mutant allele in cultured mast cells of mice. Blood 93(4):1189-96. [PubMed: 9949161] [MGI Ref ID J:53161]
Ito A; Morii E; Maeyama K; Jippo T; Kim DK; Lee YM; Ogihara H ; Hashimoto K ; Kitamura Y ; Nojima H. 1998. Systematic method to obtain novel genes that are regulated by mi transcription factor: impaired expression of granzyme B and tryptophan hydroxylase in mi/mi cultured mast cells. Blood 91(9):3210-21. [PubMed: 9558376] [MGI Ref ID J:47456]
Kataoka TR; Komazawa N; Oboki K; Morii E; Nakano T. 2005. Reduced expression of IL-12 receptor beta2 and IL-18 receptor alpha genes in natural killer cells and macrophages derived from B6-mi/mi mice. Lab Invest 85(1):146-53. [PubMed: 15492754] [MGI Ref ID J:95747]
Kataoka TR; Morii E; Oboki K; Kitamura Y. 2004. Strain-dependent inhibitory effect of mutant mi-MITF on cytotoxic activities of cultured mast cells and natural killer cells of mice. Lab Invest 84(3):376-84. [PubMed: 14716319] [MGI Ref ID J:132572]
Kim DK; Morii E; Ogihara H; Lee YM; Jippo T; Adachi S; Maeyama K; Kim HM; Kitamura Y. 1999. Different effect of various mutant MITF encoded by mi, Mior, or Miwh allele on phenotype of murine mast cells. Blood 93(12):4179-86. [PubMed: 10361115] [MGI Ref ID J:55734]
Kim HM; Hirota S; Chung HT; Onoue H; Ito A; Morii E; Hirata T; Ohno S; Osada S; Kitamura Y; Nomura S. 1993. PKC gamma gene expression is delayed in postnatal central nervous system of mi/mi mice. J Mol Neurosci 4(4):245-53. [PubMed: 7522503] [MGI Ref ID J:22008]
Koniukhov BV; Laminina NA. 1996. [Expression of the mutant gene mi in mice: white spotting pattern] Genetika 32(11):1521-7. [PubMed: 9119213] [MGI Ref ID J:38756]
Konyukhov BV; Osipov VV. 1968. Interallelic complementation of microphthalmia and white genes in mice. Sov Genet 4(11):1457-1465. [MGI Ref ID J:12001]
Larsen M. 1966. Microphthalmia-brownish, Mi<b> Mouse News Lett 34:41. [MGI Ref ID J:15061]
Luchin A; Suchting S; Merson T; Rosol TJ; Hume DA; Cassady AI; Ostrowski MC. 2001. Genetic and physical interactions between Microphthalmia transcription factor and PU.1 are necessary for osteoclast gene expression and differentiation. J Biol Chem 276(39):36703-10. [PubMed: 11481336] [MGI Ref ID J:71813]
Marks SC Jr; Walker DG. 1981. The hematogenous origin of osteoclasts: experimental evidence from osteopetrotic (microphthalmic) mice treated with spleen cells from beige mouse donors. Am J Anat 161(1):1-10. [PubMed: 6264778] [MGI Ref ID J:6526]
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]
Morii E; Oboki K; Jippo T; Kitamura Y. 2003. Additive effect of mouse genetic background and mutation of MITF gene on decrease of skin mast cells. Blood 101(4):1344-50. [PubMed: 12393515] [MGI Ref ID J:82322]
Morii E; Ogihara H; Oboki K; Kataoka TR; Maeyama K; Fisher DE; Lamoreux ML; Kitamura Y. 2001. Effect of a large deletion of the basic domain of mi transcription factor on differentiation of mast cells. Blood 98(8):2577-9. [PubMed: 11588059] [MGI Ref ID J:131110]
Ogihara H; Morii E; Kim DK; Oboki K; Kitamura Y. 2001. Inhibitory effect of the transcription factor encoded by the mutant mi microphthalmia allele on transactivation of mouse mast cell protease 7 gene. Blood 97(3):645-51. [PubMed: 11157480] [MGI Ref ID J:67218]
Packer SO. 1967. The eye and skeletal effects of two mutant alleles at the microphthalmia locus of Mus musculus. J Exp Zool 165(1):21-45. [PubMed: 4963367] [MGI Ref ID J:5046]
Potterf SB; Furumura M; Dunn KJ; Arnheiter H; Pavan WJ. 2000. Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3. Hum Genet 107(1):1-6. [PubMed: 10982026] [MGI Ref ID J:63953]
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]
Rohan PJ; Stechschulte DJ; Li Y; Dileepan KN. 1997. Macrophage function in mice with a mutation at the microphthalmia (mi) locus. Proc Soc Exp Biol Med 215(3):269-74. [PubMed: 9207863] [MGI Ref ID J:41586]
Roundy K; Kollhoff A; Eichwald EJ; Weis JJ; Weis JH. 1999. Microphthalmic mice display a B cell deficiency similar to that seen for mast and NK cells. J Immunol 163(12):6671-8. [PubMed: 10586063] [MGI Ref ID J:58982]
Roundy KM; Spangrude G; Weis JJ; Weis JH. 2005. Partial rescue of B cells in microphthalmic osteopetrotic marrow by loss of response to type I IFNs. Int Immunol 17(11):1495-503. [PubMed: 16186160] [MGI Ref ID J:102222]
Sato M; Morii E; Takebayashi-Suzuki K; Yasui N; Ochi T; Kitamura Y; Nomura S. 1999. Microphthalmia-associated transcription factor interacts with PU.1 and c-Fos: determination of their subcellular localization. Biochem Biophys Res Commun 254(2):384-7. [PubMed: 9918847] [MGI Ref ID J:114256]
Shahlaee AH; Brandal S; Lee YN; Jie C; Takemoto CM. 2007. Distinct and shared transcriptomes are regulated by microphthalmia-associated transcription factor isoforms in mast cells. J Immunol 178(1):378-88. [PubMed: 17182576] [MGI Ref ID J:141927]
Sharma SM; Bronisz A; Hu R; Patel K; Mansky KC; Sif S; Ostrowski MC. 2007. MITF and PU.1 recruit p38 MAPK and NFATc1 to target genes during osteoclast differentiation. J Biol Chem 282(21):15921-9. [PubMed: 17403683] [MGI Ref ID J:122658]
Silver DL; Hou L; Somerville R; Young ME; Apte SS; Pavan WJ. 2008. The secreted metalloprotease AMAMTS20 is required for melanoblast survival PLoS Genet 4(2):e1000003. [PubMed: 18454205] [MGI Ref ID J:133403]
Silvers WK. 1979. The Coat Colors of Mice; A Model for Mammalian Gene Action and Interaction. In: The Coat Colors of Mice. Springer-Verlag, New York. [MGI Ref ID J:78801]
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; Tessarollo L; Pathak B; Hou L; Arnheiter H; Copeland NG; Jenkins NA. 2002. Mitf and Tfe3, two members of the Mitf-Tfe family of bHLH-Zip transcription factors, have important but functionally redundant roles in osteoclast development. Proc Natl Acad Sci U S A 99(7):4477-82. [PubMed: 11930005] [MGI Ref ID J:89821]
Stevens J; Loutit JF. 1982. Mast cells in spotted mutant mice (W Ph mi). Proc R Soc Lond B Biol Sci 215(1200):405-9. [PubMed: 6127714] [MGI Ref ID J:6889]
Tagaya H; Kunisada T; Yamazaki H; Yamane T; Tokuhisa T; Wagner EF; Sudo T; Shultz LD; Hayashi SI. 2000. Intramedullary and extramedullary B lymphopoiesis in osteopetrotic mice. Blood 95(11):3363-70. [PubMed: 10828017] [MGI Ref ID J:82593]
Tassabehji M; Newton VE; Read AP. 1994. Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene [see comments] Nat Genet 8(3):251-5. [PubMed: 7874167] [MGI Ref ID J:24202]
Walker DG. 1975. Spleen cells transmit osteopetrosis in mice. Science 190(4216):785-7. [PubMed: 1198094] [MGI Ref ID J:5599]
Watanabe H; Tatsumi K; Yokoi H; Higuchi T; Iwai M; Fukuoka M; Fujiwara H; Fujita K; Nakayama H; Mori T; Fujita J. 1997. Ovulation defect and its restoration by bone marrow transplantation in osteopetrotic mutant mice of Mitf(mi)/Mitf(mi) genotype. Biol Reprod 57(6):1394-400. [PubMed: 9408245] [MGI Ref ID J:44459]
Wolfe HG. 1962. New allele at the mi locus (mi<sp>) Mouse News Lett 26:35. [MGI Ref ID J:35685]
Wolfe HG; Coleman DL. 1964. Mi-spotted: a mutation in the mouse. Genet Res 5:432-440. [MGI Ref ID J:12946]
Yamada G; Nakamura S; Haraguchi R; Terai K; Nomura S; Kitamura Y ; Minami T ; Yamada MO ; Suzuki S ; Izumi H ; Nagata R. 1998. Microphthalmia (mi) mice display an aberrant bone trace element composition. Biol Trace Elem Res 62(1-2):75-82. [PubMed: 9630426] [MGI Ref ID J:48205]
Yang S; Zhang Y; Ries WL; Key LL Jr. 1995. Characterization of M-CSF and its receptor in microphthalmic mice. Exp Hematol 23(2):126-32. [PubMed: 7828669] [MGI Ref ID J:22788]
Yokoi H; Nakayama H; Horie K; Fukumoto M; Fujita K; Kaneko Y; Iwai M; Natsuyama S; Kanzaki H; Mori KJ; Fujita J. 1994. High incidence of uterine inversion in mast cell-deficient osteopetrotic mutant mice of mi/mi genotype. Biol Reprod 50(5):1034-9. [PubMed: 7517699] [MGI Ref ID J:18274]
Health & husbandry
Health & Colony Maintenance Information
Animal Health Reports
Room Number FGB29
Colony Maintenance
Mating System Ovarian Transplant-Cross-Intercross (Female x Male) 01-MAR-06 TJL Breeding Summary: ovarian transplant from homozygote x B6C3Fe a/a F1 then obligate heterozygote x obligate heterozygote
Purchasing information
Pricing, Supply Level & Notes, Controls, General Terms & Conditions
Pricing
| Pricing for USA, Canada and Mexico shipping destinations |
|
Weeks of Age Price (US dollars $) Gender Genotypes Provided Individual Mouse $209.40 Female or Male Homozygous for MitfMi
Pairs /Price (US dollars $) Pair Genotype $282.00 Heterozygous for MitfMi x Heterozygous for MitfMi tested $260.40 Heterozygous or Wild-type for MitfMi - +/? x Heterozygous or Wild-type for MitfMi - +/? untested
Additional Supply Details
| Supply Notes |
|
|---|
| Pricing for International shipping destinations |
|
Weeks of Age Price (US dollars $) Gender Genotypes Provided Individual Mouse $272.30 Female or Male Homozygous for MitfMi
Pairs /Price (US dollars $) Pair Genotype $366.60 Heterozygous for MitfMi x Heterozygous for MitfMi tested $338.60 Heterozygous or Wild-type for MitfMi - +/? x Heterozygous or Wild-type for MitfMi - +/? untested
Additional Supply Details
| Supply Notes |
|
|---|
|
|
|
Supply Details
| 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 approximately 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 two business days following order placement. |
|---|---|
| Supply Notes |
|
Control Information
| Control | ||
|---|---|---|
| Untyped from the colony | ||
| 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. | ||
Payment Terms and Conditions
Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.
See Terms of Use tab for General Terms and Conditions
The Jackson Laboratory's Genotype Promise
The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.Ordering and Purchasing Information
Purchasing Information
JAX® Mice Orders
Surgical Services
Contact Information
Orders & Technical Support
Tel: 1-800-422-6423 or 1-207-288-5845
Fax: 1-207-288-6150
Technical Support Email Form
Terms of Use
Terms of Use
General Terms and Conditions
Contact information
General inquiries
Contracts Administration
| phone: | 207-288-6470 |
| fax: | 207-288-6655 |
JAX® Mice, Products & Services Conditions of Use
"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCTS" means biological materials supplied by JACKSON, and their derivatives. "RECIPIENT" means each recipient of MICE, PRODUCTS, or services provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than the internal research, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services. Acceptance of MICE or PRODUCTS from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON's prior written authorization.No Warranty
MICE, PRODUCTS AND SERVICES ARE PROVIDED “AS IS”. JACKSON EXTENDS NO WARRANTIES OF ANY KIND, EITHER EXPRESS, IMPLIED, OR STATUTORY, WITH RESPECT TO MICE, PRODUCTS OR SERVICES, INCLUDING ANY IMPLIED WARRANTY OF MERCHANTABILITY OR FITNESS FOR A PARTICULAR PURPOSE, OR ANY WARRANTY OF NON-INFRINGEMENT OF ANY PATENT, TRADEMARK, OR OTHER INTELLECTUAL PROPERTY RIGHTS.
In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of mice, products or services, JACKSON will, at its option, provide credit or replacement for the mice or product received or the services provided.
No Liability
In no event shall JACKSON, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, PRODUCTS or services, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of JACKSON, its agents or employees. In purchasing or receiving MICE, PRODUCTS or services from JACKSON, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges JACKSON from all such causes of action or damages, and further agrees to defend and indemnify JACKSON from any costs or damages arising out of any third party claims.
MICE and PRODUCTS are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.
The foregoing represents the General Terms and Conditions applicable to JACKSON’s MICE, PRODUCTS or services. In addition, special terms and conditions of sale of certain MICE, PRODUCTS or services may be set forth separately in JACKSON web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, PRODUCTS and services by JACKSON, and by its licensees and distributors.
Acceptance of delivery of MICE, PRODUCTS or services shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on JACKSON, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, PRODUCTS or services by JACKSON.