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Type Mutant Stock; Additional information on Genetically Engineered Mutant Mice. Species laboratory mouse Generation N1p Description
Mutations at the Mitf locus affect eye size, pigmentation, and the capacity for secondary bone resorption. MIce homozygous for the white allele (MitfMi-wh) display an overall absence of pigment cells with the exception of the retina which expresses a few giving the eye a small amount of pigment. Homozygotes show slight microphthalmia but a normal skeleton. Heterozygotes (MitfMi-wh/+) have a diluted coat color, light ears, a white belly spot, and in rare cases a dorsal spot. In addition, they display abnormalitites of both the cochlear and vestibular portions of the inner ear. Mice homozygous for the postaxial hemimelia spontaneous mutation (Wnt7apx) have skeletal defects of the forelimbs. Digits 5, 4, and sometimes 3, are missing and there is a reduction or absence of the ulna. There is always a large oval foramen in the scapula. The hindlimbs are usually unaffected, but digit 5 may be absent, and occasionally the fibula is reduced. Severely affected mice tend to have an extra pair of ribs and a slight reduction in the number of presacral vertebrae. Both sexes are sterile and show anomalies of the Mullerian ducts.
| Control | ||
|---|---|---|
| Untyped from the colony | ||
| Considerations for Choosing Controls | ||
Strains carrying MitfMi-wh allele
000593 B6 x B6CBCa Aw-J/A-Grid2Lc T(2;6)7Ca MitfMi-wh/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 000302 STOCK a/a MitfMi-wh +/+ Itpr1opt/J View Strains carrying MitfMi-wh (7 strains)
Strains carrying other alleles of Mitf
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 001573 B6C3Fe a/a-MitfMi/J 000956 B6CB-Mitfmi-rw/J 002611 C57BL/6J-Mitfmi-bws/J 002134 C57BL/6J-Mitfmi-vit/J View Strains carrying other alleles of Mitf (8 strains)
Strains carrying other alleles of Wnt7a
004715 B6;129S1-Wnt7atm1Amc/J View Strains carrying other alleles of Wnt7a (1 strain)
View Related Disease (OMIM) Terms
Related Disease (OMIM) Terms
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).
View Mammalian Phenotype Terms
Mammalian Phenotype Terms
assigned by genotype
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
MitfMi-wh/Mitf+
involves: C57BL/6 * DBA
- pigmentation phenotype
- abnormal skin pigmentation (MGI Ref ID J:13058)
- reduced foot pigmentation
- abnormal tail pigmentation (MGI Ref ID J:13058)
- reduced tail pigmentation
- diluted coat color (MGI Ref ID J:13058)
- coat color is gray and somewhat lighter than that of Myo5ad homozygotes
- coat color darkens slightly with age
- reduced eye pigmentation (MGI Ref ID J:13058)
- eyes are a very dark ruby color
- skin/coat/nails phenotype
- abnormal skin pigmentation (MGI Ref ID J:13058)
- reduced foot pigmentation
- abnormal tail pigmentation (MGI Ref ID J:13058)
- reduced tail pigmentation
- diluted coat color (MGI Ref ID J:13058)
- coat color is gray and somewhat lighter than that of Myo5ad homozygotes
- coat color darkens slightly with age
- limbs/digits/tail phenotype
- abnormal tail pigmentation (MGI Ref ID J:13058)
- reduced tail pigmentation
- vision/eye phenotype
- reduced eye pigmentation (MGI Ref ID J:13058)
- eyes are a very dark ruby color
MitfMi-wh/MitfMi-wh
involves: C57BL/6 * DBA
- pigmentation phenotype
- absent coat pigmentation (MGI Ref ID J:13058)
- coat color is indistinguishable from that of Tyrc homozygotes
- ocular albinism (MGI Ref ID J:13058)
- eyes are pink and pigmentless
- vision/eye phenotype
- microphthalmia (MGI Ref ID J:13058)
- eye size appears reduced compared to f Tyrc homozygotes
- ocular albinism (MGI Ref ID J:13058)
- eyes are pink and pigmentless
- growth/size phenotype
- decreased body size (MGI Ref ID J:13058)
- reduced body size compared to f Tyrc homozygotes
- reproductive system phenotype
- decreased litter size (MGI Ref ID J:13058)
- litter size is reduced in homozygous female to homozygous male crosses
- skin/coat/nails phenotype
- absent coat pigmentation (MGI Ref ID J:13058)
- coat color is indistinguishable from that of Tyrc homozygotes
MitfMi-wh/MitfMi-wh
B6.Cg-MitfMi-wh
- pigmentation phenotype
- abnormal retinal pigment epithelium morphology (MGI Ref ID J:5046)
- pigment granules are absent at E11
- at E11.5 and E12, the pigment layer is irregullar, mainly in the dorsal region
- after E12 in some area the cells are columnar rather than cuboidal
- at all stages the number of mitoses is increased compared to control pigment layers
- abnormal retinal pigmentation (MGI Ref ID J:5046)
- pigment granules are absent from the pigment layer at E11
- after E12, a few pigment granules may be found in the front edge of the pigment layer
- at birth a few pigment granules are present near the iris
- vision/eye phenotype
- abnormal eye development (MGI Ref ID J:5046)
- at E12 the choroid fissure is mostly closed but the joining of the retinal nervous layer is not smooth and a large retinal eversion is present at the rear of the optic cup where the fissure fails to close
- in newborns the retinal eversion remains obvious in the unclosed portions of the choroid fissure
- abnormal optic cup morphology (MGI Ref ID J:5046)
- slightly reduced in size from E13 onwards
- irregularly formed surrounding less than half of the spherical lens
- abnormal optic stalk morphology (MGI Ref ID J:5046)
- slight increase in diameter at E11
- shorter and somewhat greater in diameter at E11.5 and E12
- 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)
- at birth the choroid fissure is irregularly closed in the anterior eye and open from the posterior part of the lens to the rear of the optic cup
- in newborns the retinal eversion remains obvious in the unclosed portions of the choroid fissure
- abnormal retinal neuronal layer morphology (MGI Ref ID J:5046)
- at birth, the layers are less clearly defined
- abnormal retinal pigment epithelium morphology (MGI Ref ID J:5046)
- pigment granules are absent at E11
- at E11.5 and E12, the pigment layer is irregullar, mainly in the dorsal region
- after E12 in some area the cells are columnar rather than cuboidal
- at all stages the number of mitoses is increased compared to control pigment layers
- abnormal retinal pigmentation (MGI Ref ID J:5046)
- pigment granules are absent from the pigment layer at E11
- after E12, a few pigment granules may be found in the front edge of the pigment layer
- at birth a few pigment granules are present near the iris
- microphthalmia (MGI Ref ID J:5046)
- slightly smaller at birth
- skeleton phenotype
- *normal* skeleton phenotype (MGI Ref ID J:5046)
- unlike MitfMi homozygotes no skeletal abnormalities are seen
- homeostasis/metabolism phenotype
- decreased bleeding time (MGI Ref ID J:7327)
- bleed time of only 1 minute after tail nick is significantly less than the 3.8 minutes in C57BL/6J controls
Wnt7apx/Wnt7apx
involves: STOCK Sox18Ra
- limbs/digits/tail phenotype
- abnormal forelimb morphology (MGI Ref ID J:112)
- forelimbs are regularly affected
- abnormal ulna morphology (MGI Ref ID J:112)
- reduction or absence of the ulna
- abnormal hindlimb morphology (MGI Ref ID J:112)
- hindlimbs are usually normal, but digit 5 may be absent, and occasionally the fibula is reduced
- short fibula (MGI Ref ID J:112)
- occasionally the fibula is reduced
- oligodactyly (MGI Ref ID J:112)
- there may be absence of digits 5, 4, and sometimes 3 on the forelimbs
- digit 5 may be absent on the hindlimbs
- reproductive system phenotype
- abnormal reproductive system morphology (MGI Ref ID J:112)
- anomalies of the Mullerian ducts in both sexes
- female infertility (MGI Ref ID J:112)
- male infertility (MGI Ref ID J:112)
- skeleton phenotype
- abnormal ulna morphology (MGI Ref ID J:112)
- reduction or absence of the ulna
- decreased presacral vertebrae number (MGI Ref ID J:112)
- mice with more severely affected limbs tend to have a slight reduction in the number of presacral vertebrae
- increased rib number (MGI Ref ID J:112)
- mice with more severely affected limbs tend to have an extra pair of ribs
- scapular bone foramen (MGI Ref ID J:112)
- a large oval foramen is present in the scapula
- short fibula (MGI Ref ID J:112)
- occasionally the fibula is reduced
View Research Applications
Research Applications
This mouse can be used to support research in many areas including:MitfMi-wh related
Wnt7apx relatedDermatology 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
Vestibular and Hearing Defects
Developmental Biology Research
Skeletal Defects
Reproductive Biology Research
Developmental Defects Affecting Gonads
Fertility Defects
| Allele Symbol | MitfMi-wh | ||
|---|---|---|---|
| Allele Name | white | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | Miwh; | ||
| Strain of Origin | (C57BL x DBA)F1 | ||
| 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 | Combination heterozygotes of MitfMi-wh/MitfMi, MitfMi-wh/MitfMi-b, and MitfMi-wh/MitfMi-ws show some interallelic complementation in that the heterozygote of the two alleles is more nearlynormal than either homozygote (J:12967, J:19656). MitfMi-b/MitfMi-wh agouti mice are light cream with white spots and ruby eyes (J:15061). | ||
| Molecular Note | T to A transversion at bp 764, which leads to an isoleucine to asparagine substitution at the corresponding amino acid (212) in the encoded protein. This mutation is in the basic region of the protein. [MGI Ref ID J:19656] [MGI Ref ID J:21366] | ||
| Allele Symbol | Wnt7apx | ||
| Allele Name | postaxial hemimelia | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | px; | ||
| Strain of Origin | STOCK Sox18 | ||
| Gene Symbol and Name | Wnt7a, wingless-related MMTV integration site 7A | ||
| Chromosome | 6 | ||
| Gene Common Name(s) | AI849442; Wnt-7a; expressed sequence AI849442; foot-twist; postaxial hemimelia; px; tw; | ||
| Molecular Note | A 515 bp deletion at the end of exon 3. This results in utilization of a cryptic splice site in exon 3. This alteration in the mRNA is predicted to create a shift in the reading frame and the introduction of a stop codon at the beginning of the fourth exon. [MGI Ref ID J:50461] | ||
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Optimizing PCR Protocols
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-wh relatedWnt7apx relatedBeechey CV. 2004. A reassessment of imprinting regions and phenotypes on mouse chromosome 6: Nap1l5 locates within the currently defined sub-proximal imprinting region. Cytogenet Genome Res 107(1-2):108-14. [PubMed: 15305064] [MGI Ref ID J:93134]
Boissy RE; Lamoreux ML. 1995. In vivo and in vitro morphological analysis of melanocytes homozygous for the misp allele at the murine microphthalmia locus. Pigment Cell Res 8(6):294-301. [PubMed: 8789737] [MGI Ref ID J:31402]
Diwakar G; Zhang D; Jiang S; Hornyak TJ. 2008. Neurofibromin as a regulator of melanocyte development and differentiation. J Cell Sci 121(Pt 2):167-77. [PubMed: 18089649] [MGI Ref ID J:130856]
Grobman AB; Charles DR. 1947. Mutant white mice. A new dominant autosomal mutant affecting coat color in Mus musculus. J Hered 38:381-384. [MGI Ref ID J:13058]
Gruneberg H. 1953. The relations of microphthalmia and white in the mouse. J Genet 51:359-362. [MGI Ref ID J:13042]
Hollander WF. 1968. Complementary alleles at the mi-locus in the mouse. Genetics 60:189. [MGI Ref ID J:12967]
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]
Jippo T; Morii E; Ito A; Kitamura Y. 2003. Effect of anatomical distribution of mast cells on their defense function against bacterial infections: demonstration using partially mast cell-deficient tg/tg mice. J Exp Med 197(11):1417-25. [PubMed: 12771178] [MGI Ref ID J:83732]
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]
Konyukhov BV; Kindyakov BN; Malinina NA. 1994. Effects of the white allele of the mi locus on coat pigmentation in chimeric mice. Genet Res 63(3):175-81. [PubMed: 8082834] [MGI Ref ID J:19656]
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]
Moller A; Eysteinsson T; Steingrimsson E. 2004. Electroretinographic assessment of retinal function in microphthalmia mutant mice. Exp Eye Res 78(4):837-48. [PubMed: 15037118] [MGI Ref ID J:88541]
Moore KJ; Swing DA; Copeland NG; Jenkins NA. 1990. Interaction of the murine dilute suppressor gene (dsu) with fourteen coat color mutations [published erratum appears in Genetics 1990 Sep;126(1):285] Genetics 125(2):421-30. [PubMed: 2379821] [MGI Ref ID J:29467]
Munford RE. 1965. Mutation at mi locus Mouse News Lett 33:52. [MGI Ref ID J:83501]
Nakayama A; Nguyen MT; Chen CC; Opdecamp K; Hodgkinson CA; Arnheiter H. 1998. Mutations in microphthalmia, the mouse homolog of the human deafness gene MITF, affect neuroepithelial and neural crest-derived melanocytes differently. Mech Dev 70(1-2):155-66. [PubMed: 9510032] [MGI Ref ID J:46130]
Novak EK; Hui SW; Swank RT. 1984. Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci. Blood 63(3):536-44. [PubMed: 6696991] [MGI Ref ID J:7327]
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]
Pratt BM. 1982. Site of gene action of the white allele (Miwh) of the microphthalmia locus: a dermal-epidermal recombination study. J Exp Zool 220(1):93-101. [PubMed: 7042901] [MGI Ref ID J:6764]
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; 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]
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]
Zanjani HS; Vogel MW; Martinou JC; Delhaye-Bouchaud N; Mariani J. 1998. Postnatal expression of Hu-bcl-2 gene in Lurcher mutant mice fails to rescue Purkinje cells but protects inferior olivary neurons from target-related cell death. J Neurosci 18(1):319-27. [PubMed: 9412510] [MGI Ref ID J:119889]
Cox S; Smith L; Bogani D; Cheeseman M; Siggers P; Greenfield A. 2006. Sexually dimorphic expression of secreted frizzled-related (SFRP) genes in the developing mouse Mullerian duct. Mol Reprod Dev 73(8):1008-16. [PubMed: 16700072] [MGI Ref ID J:119228]
Parr BA; Avery EJ; Cygan JA; McMahon AP. 1998. The classical mouse mutant postaxial hemimelia results from a mutation in the Wnt 7a gene. Dev Biol 202(2):228-34. [PubMed: 9769174] [MGI Ref ID J:50461]
Searle AG. 1964. The genetics and morphology of two 'luxoid' mutants in the house mouse Genet Res 5:171-197. [MGI Ref ID J:112]
Currently there no information available for this strain. This may be due to the supply level of this strain.
| Pricing for USA, Canada and Mexico shipping destinations |
|
*Price(s) in US dollars ($)
Weeks of Age Price* Gender Cryorecovery Fee $1900.00
| Pricing for International shipping destinations |
|
*Price(s) in US dollars ($)
Weeks of Age Price* Gender Cryorecovery Fee $2470.00
| Standard Supply | Repository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information. |
|---|---|
| Supply Notes |
|
| 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. | ||
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