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- Description
- Disease & phenotype
- Genes & alleles
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Description
The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.
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. Species laboratory mouse Generation N36F1pN1
Generation DefinitionsAppearance
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
- Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
Albinism, Ocular, with Sensorineural Deafness
Tietz Syndrome
Waardenburg Syndrome, Type 2A; WS2A
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. Skin/Hair/Eye Pigmentation, Variation In, 9; SHEP9 (ASIP)
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 coat/hair pigmentation
- slight dilution of the fur in the young returns to normal in the adult (MGI Ref ID J:125080)
- abnormal iris stromal pigmentation
- less iris pigment than normal (MGI Ref ID J:30758)
- decreased eye pigmentation
- iris pigmentation is reduced (MGI Ref ID J:125080)
- vision/eye phenotype
- abnormal iris stromal pigmentation
- less iris pigment than normal (MGI Ref ID J:30758)
- decreased eye pigmentation
- iris pigmentation is reduced (MGI Ref ID J:125080)
- hearing/vestibular/ear phenotype
- abnormal cochlea morphology
- no section of the cochlear duct was ever found to be normal (MGI Ref ID J:125080)
- abnormal vestibular saccule morphology
- the majority of ears show dedifferentiation and cellular migrations in the cochlear duct and the saccule (MGI Ref ID J:125080)
- nervous system phenotype
- abnormal cochlear hair cell morphology (MGI Ref ID J:125080)
- integument phenotype
- abnormal coat/hair pigmentation
- slight dilution of the fur in the young returns to normal in the adult (MGI Ref ID J:125080)
MitfMi/MitfMi
Background Not Specified
- mortality/aging
- decreased survivor rate
- viability is very low (MGI Ref ID J:125080)
- postnatal lethality
- most die at weaning but infrequently some live several months (MGI Ref ID J:30758)
- pigmentation phenotype
- abnormal retinal pigment epithelium morphology
- at E10.5 the pigment layer is thicker than in control littermates and this is more prominent dorsally where the layer is irregular (MGI Ref ID J:5046)
- at E11.5, this layer is a thickened monolayer ventrally and an irregular multilayered structure dorsally (MGI Ref ID J:5046)
- at E11.5 layer thickness is increased and dorsal regions are particularly thickened and wavy (MGI Ref ID J:5046)
- 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 (MGI Ref ID J:5046)
- at P0 folds are present (MGI Ref ID J:5046)
- at all stages the mitotic values in the pigment layer is increased compared to controls (MGI Ref ID J:5046)
- abnormal retinal pigmentation
- complete absence of pigment granules at E11.5 and at P0 (MGI Ref ID J:5046)
- absent coat pigmentation (MGI Ref ID J:30758)
- homozygotes are white (MGI Ref ID J:125080)
- decreased eye pigmentation (MGI Ref ID J:30758)
- skeleton phenotype
- abnormal skeleton morphology (MGI Ref ID J:125080)
- abnormal osteoclast morphology
- cells are smaller, rounder, and contain fewer nuclei than in heterozygous controls (MGI Ref ID J:5046)
- the ratio of regular to irregular nuclei is significantly greater in homozygotes compared to heterozygous controls (MGI Ref ID J:5046)
- cells contain greater amounts of cytoplasmic basophilia and cytoplasmic RNA compared to heterozygous controls (MGI Ref ID J:5046)
- increased osteoclast cell number
- increase in the number of osteoclasts on the parietal bones of most homozygotes at P0, P3, P7.5 and P10 compared to heterozygous controls (MGI Ref ID J:5046)
- osteopetrosis
- vision/eye phenotype
- abnormal ciliary body morphology
- thicker and less folded than in control littermates at P0 (MGI Ref ID J:5046)
- abnormal eye development
- 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 (MGI Ref ID J:5046)
- at all stages the mitotic values in the pigment layer is increased compared to controls (MGI Ref ID J:5046)
- abnormal optic cup morphology
- abnormal optic stalk morphology
- coloboma
- 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 (MGI Ref ID J:5046)
- in anterior regions the edges of the coloboma do not meet while in ventral regions the edges overlap (MGI Ref ID J:5046)
- 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 (MGI Ref ID J:5046)
- abnormal posterior eye segment morphology
- the lens fills the space normally occupied by the vitreous body (MGI Ref ID J:5046)
- abnormal choroid morphology
- remains open at E12 and in areas along the edges inversion of the pigment epithelium is seen (MGI Ref ID J:5046)
- abnormal retinal neuronal layer morphology
- the nervous layer is irregular in thickness, folded and the strata are less clearly defined (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 (MGI Ref ID J:5046)
- abnormal retinal pigment epithelium morphology
- at E10.5 the pigment layer is thicker than in control littermates and this is more prominent dorsally where the layer is irregular (MGI Ref ID J:5046)
- at E11.5, this layer is a thickened monolayer ventrally and an irregular multilayered structure dorsally (MGI Ref ID J:5046)
- at E11.5 layer thickness is increased and dorsal regions are particularly thickened and wavy (MGI Ref ID J:5046)
- 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 (MGI Ref ID J:5046)
- at P0 folds are present (MGI Ref ID J:5046)
- at all stages the mitotic values in the pigment layer is increased compared to controls (MGI Ref ID J:5046)
- abnormal retinal pigmentation
- complete absence of pigment granules at E11.5 and at P0 (MGI Ref ID J:5046)
- absent optic nerve
- 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 (MGI Ref ID J:5046)
- decreased eye pigmentation (MGI Ref ID J:30758)
- eyelids fail to open (MGI Ref ID J:125080)
- microphthalmia (MGI Ref ID J:30758)
- immune system phenotype
- abnormal osteoclast morphology
- cells are smaller, rounder, and contain fewer nuclei than in heterozygous controls (MGI Ref ID J:5046)
- the ratio of regular to irregular nuclei is significantly greater in homozygotes compared to heterozygous controls (MGI Ref ID J:5046)
- cells contain greater amounts of cytoplasmic basophilia and cytoplasmic RNA compared to heterozygous controls (MGI Ref ID J:5046)
- increased osteoclast cell number
- increase in the number of osteoclasts on the parietal bones of most homozygotes at P0, P3, P7.5 and P10 compared to heterozygous controls (MGI Ref ID J:5046)
- decreased mast cell number
- deficiency in gut and liver (MGI Ref ID J:6889)
- nervous system phenotype
- abnormal cochlear hair cell morphology (MGI Ref ID J:125080)
- absent optic nerve
- 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 (MGI Ref ID J:5046)
- craniofacial phenotype
- failure of tooth eruption
- incisors fail to erupt (MGI Ref ID J:30758)
- hematopoietic system phenotype
- abnormal osteoclast morphology
- cells are smaller, rounder, and contain fewer nuclei than in heterozygous controls (MGI Ref ID J:5046)
- the ratio of regular to irregular nuclei is significantly greater in homozygotes compared to heterozygous controls (MGI Ref ID J:5046)
- cells contain greater amounts of cytoplasmic basophilia and cytoplasmic RNA compared to heterozygous controls (MGI Ref ID J:5046)
- increased osteoclast cell number
- increase in the number of osteoclasts on the parietal bones of most homozygotes at P0, P3, P7.5 and P10 compared to heterozygous controls (MGI Ref ID J:5046)
- decreased mast cell number
- deficiency in gut and liver (MGI Ref ID J:6889)
- hearing/vestibular/ear phenotype
- abnormal cochlea morphology
- no section of the cochlear duct was ever found to be normal (MGI Ref ID J:125080)
- abnormal vestibular saccule morphology
- the majority of ears show dedifferentiation and cellular migrations in the cochlear duct and the saccule (MGI Ref ID J:125080)
- integument phenotype
- absent coat pigmentation (MGI Ref ID J:30758)
- homozygotes are white (MGI Ref ID J:125080)
MitfMi/MitfMi
B6.Cg-MitfMi
- immune system phenotype
- abnormal mast cell physiology
- homeostasis/metabolism phenotype
- abnormal serotonin level
- serotonin concentrations in cultured mast cells are lower than in wild-type cells (MGI Ref ID J:53161)
MitfMi/MitfMi
involves: C57BL/6J
- mortality/aging
- postnatal lethality
- mice do not live past 3 weeks of age (MGI Ref ID J:89821)
- growth/size phenotype
- decreased body size
- mice are half the normal size (MGI Ref ID J:89821)
- hematopoietic system phenotype
- abnormal osteoclast morphology
- small osteoclasts (MGI Ref ID J:89821)
- immune system phenotype
- abnormal osteoclast morphology
- small osteoclasts (MGI Ref ID J:89821)
- craniofacial phenotype
- failure of tooth eruption
- incisors fail to erupt (MGI Ref ID J:89821)
- pigmentation phenotype
- absent coat pigmentation
- white coat (MGI Ref ID J:89821)
- skeleton phenotype
- abnormal osteoclast morphology
- small osteoclasts (MGI Ref ID J:89821)
- osteopetrosis
- severe osteopetrosis, with extensive accumulation of unresorbed endochondral bone and no bone marrow cavity (MGI Ref ID J:89821)
- vision/eye phenotype
- microphthalmia (MGI Ref ID J:89821)
- integument phenotype
- absent coat pigmentation
- white coat (MGI Ref ID J:89821)
This mouse can be used to support research in many areas including:
MitfMi relatedDevelopmental Biology Research
Skeletal Defects
osteopetrosis
Internal/Organ Research
Skeleton
Bone
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, Inflammation and Autoimmunity Research
Immunodeficiency Associated with Other Defects
Neurobiology Research
Hearing Defects
Sensorineural Research
Eye Defects
Hearing Defects
Genes & Alleles
Gene & Allele Information provided by MGI
| 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) | BCC2; CMM8; Gsfbcc2; MI; WS2; WS2A; bHLHe32; black eyed white; bw; gsf bright coat colour 2; 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 | ||
| Strain of Origin | old mutant of the mouse fancy | ||
| Gene Symbol and Name | a, nonagouti | ||
| Chromosome | 2 | ||
| Gene Common Name(s) | AGSW; AGTI; AGTIL; ASP; As; SHEP9; agouti; agouti signal protein; agouti suppressor; | ||
| Molecular Note | Characterization of this allele shows an insertion of DNA comprised of a 5.5kb virus-like element, VL30, into the first intron of the agouti gene. The VL30 element itself contains an additional 5.5 kb sequence, flanked by 526 bp of direct repeats. The host integration site is the same as for at-2Gso and Aw-38J and includes a duplication of four nucleotides of host DNA and a deletion of 2 bp from the end of each repeat. Northern analysis of mRNA from skin of homozygotes shows a smaller agouti message and levels 8 fold lower than found in wild-type. [MGI Ref ID J:16984] [MGI Ref ID J:24934] | ||
References
References provided by MGI
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 relateda 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]
Buac K; Xu M; Cronin J; Weeraratna AT; Hewitt SM; Pavan WJ. 2009. NRG1 / ERBB3 signaling in melanocyte development and melanoma: inhibition of differentiation and promotion of proliferation. Pigment Cell Melanoma Res 22(6):773-84. [PubMed: 19659570] [MGI Ref ID J:160209]
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]
Debbache J; Zaidi MR; Davis S; Guo T; Bismuth K; Wang X; Skuntz S; Maric D; Pickel J; Meltzer P; Merlino G; Arnheiter H. 2012. In vivo Role of Alternative Splicing and Serine Phosphorylation of the Microphthalmia-associated Transcription Factor MITF. Genetics :. [PubMed: 22367038] [MGI Ref ID J:182722]
Deol MS. 1970. The relationship between abnormalities of pigmentation and of the inner ear. Proc R Soc Lond B Biol Sci 175(39):201-17. [PubMed: 4392283] [MGI Ref ID J:125080]
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]
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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]
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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]
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The Jackson Laboratory Office of Genetic Resourses. 1979. Registry of Remutations at The Jackson Laboratory, 1979-1980 MGI Direct Data Submission :. [MGI Ref ID J:78474]
The Mammalian Genetics Unit at Harwell. 2004. Information obtained from the Mammalian Genetics Unit, Medical Research Council (MRC), Harwell, UK Unpublished :. [MGI Ref ID J:90559]
Tsuruta Y; Yoshimatsu H; Hidaka S; Kondou S; Okamoto K; Sakata T. 2002. Hyperleptinemia in A(y)/a mice upregulates arcuate cocaine- and amphetamine-regulated transcript expression. Am J Physiol Endocrinol Metab 282(4):E967-73. [PubMed: 11882520] [MGI Ref ID J:75872]
Vrieling H; Duhl DM; Millar SE; Miller KA; Barsh GS. 1994. Differences in dorsal and ventral pigmentation result from regional expression of the mouse agouti gene. Proc Natl Acad Sci U S A 91(12):5667-71. [PubMed: 8202545] [MGI Ref ID J:18750]
Wolff GL. 1978. Influence of maternal phenotype on metabolic differentiation of agouti locus mutants in the mouse. Genetics 88(3):529-39. [PubMed: 640377] [MGI Ref ID J:5964]
Woychik RP; Generoso WM; Russell LB; Cain KT; Cacheiro NL; Bultman SJ; Selby PB; Dickinson ME; Hogan BL; Rutledge JC. 1990. Molecular and genetic characterization of a radiation-induced structural rearrangement in mouse chromosome 2 causing mutations at the limb deformity and agouti loci. Proc Natl Acad Sci U S A 87(7):2588-92. [PubMed: 2320577] [MGI Ref ID J:10399]
Wu Q; Howell MP; Cowley MA; Palmiter RD. 2008. Starvation after AgRP neuron ablation is independent of melanocortin signaling. Proc Natl Acad Sci U S A 105(7):2687-92. [PubMed: 18272480] [MGI Ref ID J:132184]
Health & husbandry
Health & Colony Maintenance Information
Animal Health Reports
Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.
Pricing and Purchasing
Pricing, Supply Level & Notes, Controls
| Pricing for USA, Canada and Mexico shipping destinations |
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Cryopreserved
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $2085.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
Supply Notes
Cryorecovery of Strains Needing Progeny Testing
At least two untested males and two untested females (two pairs) will be recovered (eight or more mice is typical). The total number of animals provided, their gender and genotype will vary. Untested animals typically are available to ship between 13 and 16 weeks from the date of your order. If the first recovery attempt is unsuccessful, a second recovery will be done, extending the overall recovery time to approximately 25 weeks. Progeny testing is required to identify the genotype of mice of this strain, as a genotyping assay is not available. This type of testing involves breeding the recovered animals and assessing the phenotype of the offspring in order to identify animals carrying the mutation of interest. We can perform the progeny testing for you as a service or we can ship all recovered animals to you for progeny testing at your facility. If you perform the progeny testing, there is NO guarantee that a carrier will be identified. If we perform progeny testing as a service, additional breeding time will be required. In this case, when a male and female (one pair) are identified that carry the mutation, they and their offspring will be shipped. Delivery time for strains requiring progeny testing often exceeds 25 weeks and may take 12 months or more due to the difficulties in breeding some strains. The progeny testing cost is in addition to the recovery cost and is based on the number of boxes used and the time taken to produce the mice identified as carrying the mutation.
Please note that identified pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation.
Please contact Customer Service for more information on the cost of progeny testing for a strain: Tel: 1-800-422-6423 or 1-207-288-5845 (from any location). The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.
Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).
| Pricing for International shipping destinations |
|
Cryopreserved
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $2710.50 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
Supply Notes
Cryorecovery of Strains Needing Progeny Testing
At least two untested males and two untested females (two pairs) will be recovered (eight or more mice is typical). The total number of animals provided, their gender and genotype will vary. Untested animals typically are available to ship between 13 and 16 weeks from the date of your order. If the first recovery attempt is unsuccessful, a second recovery will be done, extending the overall recovery time to approximately 25 weeks. Progeny testing is required to identify the genotype of mice of this strain, as a genotyping assay is not available. This type of testing involves breeding the recovered animals and assessing the phenotype of the offspring in order to identify animals carrying the mutation of interest. We can perform the progeny testing for you as a service or we can ship all recovered animals to you for progeny testing at your facility. If you perform the progeny testing, there is NO guarantee that a carrier will be identified. If we perform progeny testing as a service, additional breeding time will be required. In this case, when a male and female (one pair) are identified that carry the mutation, they and their offspring will be shipped. Delivery time for strains requiring progeny testing often exceeds 25 weeks and may take 12 months or more due to the difficulties in breeding some strains. The progeny testing cost is in addition to the recovery cost and is based on the number of boxes used and the time taken to produce the mice identified as carrying the mutation.
Please note that identified pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation.
Please contact Customer Service for more information on the cost of progeny testing for a strain: Tel: 1-800-422-6423 or 1-207-288-5845 (from any location). The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.
Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).
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Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
General Supply Notes
- View the complete collection of spontaneous mutants in the Mouse Mutant Resource.
- Genomic DNA is available for this strain from the Mouse DNA Resource.
Control Information
| Control | ||
|---|---|---|
| Untyped from the colony | ||
| Considerations for Choosing Controls | ||
| 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 Information
JAX® Mice
Surgical and Preconditioning Services
JAX® Services
Customer Services and 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 regarding Terms of UseContracts 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. Unless prohibited by law, 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.