This congenic strain carries three mutant alleles (KitW-v MitfMi-wh T) affecting pigmentation and various cellular or developmental defects.
Read More +Genetic Background | Generation |
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000663 C57BL/6By |
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Allele Type | Gene Symbol | Gene Name |
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Spontaneous | Mitf | melanogenesis associated transcription factor |
Allele Type | Gene Symbol | Gene Name |
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Spontaneous | T | brachyury, T-box transcription factor T |
Allele Type | Gene Symbol | Gene Name |
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Spontaneous | Kit | KIT proto-oncogene receptor tyrosine kinase |
Kit mice possess pleiotropic defects in pigment-forming cells, germ cells, RBC's and mast cells. In addition, they exhibit impaired resistance to parasitic infection and an intrinsic progenitor cell defect. KitW-v homozygotes resemble KitW homozygotes in color, anemia, and germ cells, but many of them survive to maturity. The lack of germ cells in mutant mice leads to the development of some ovarian tumors (mesotheliomas and granulosa cell), associated with an overproduction of pituitary gonadotropic hormone. 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 abnormalities of both the cochlear and vestibular portions of the inner ear. Mice heterozygous for the brachyury spontaneous mutation (T) have tail defects and associated skeletal abnormalities.
The KitW-v mutation arose spontaneously at The Jackson Laboratory in strain C57BL/6J before 1937. The mutation MitfMi-wh arose spontaneously in offspring of a cross between strains DBA and C57BL at the University of Rochester about 1947. T was found by Dobrovolskaia-Zavadskaia in a laboratory stock about 1927. Both MitfMi-wh and T were imported into The Jackson Laboratory from Dr. D. Falconer of Edinburgh in 1950. Both mutations were together in a dominant testing stock that had been outcrossed to CBA and C57. At The Jackson Laboratory they were maintained together by sibling matings. In 1958 a KitW-v MitfMi-wh T linkage testing stock was constructed. The stock was sibling bred and subsequently backcrossed to C57BL/6By. In 1981 KitW-v/+ MitfMi-wh/+ T/+ males at N29F2 were bred with C57BL/6By females to generate embryos for cryopreservation.
Allele Name | white |
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Allele Type | Spontaneous |
Allele Synonym(s) | Miwh; mitfwh |
Gene Symbol and Name | Mitf, melanogenesis associated transcription factor |
Gene Synonym(s) | |
Strain of Origin | (C57BL x DBA)F1 |
Chromosome | 6 |
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 nearly normal 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 amino acid 212 in the encoded protein (p.I212N). This mutation is in the basic region of the protein. |
Allele Name | brachyury |
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Allele Type | Spontaneous |
Allele Synonym(s) | T1 |
Gene Symbol and Name | T, brachyury, T-box transcription factor T |
Gene Synonym(s) | |
Strain of Origin | Laboratory stock |
Chromosome | 17 |
Molecular Note | Pulsed-field gel electrophoresis revealed an altered restriction fragment size consistent with a deletion of 160-200kb. |
Allele Name | viable dominant spotting |
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Allele Type | Spontaneous |
Allele Synonym(s) | KitWv; W'; W2; Wv; Wv |
Gene Symbol and Name | Kit, KIT proto-oncogene receptor tyrosine kinase |
Gene Synonym(s) | |
Strain of Origin | silvered black strain |
Chromosome | 5 |
Molecular Note | A C-to-T point mutation at coding nucleotide 1979 (transcript NM_021099) results in a threonine to methionine substitution at amino acid 660 (p.T660M). |
When using the B6By.Cg-KitW-v MitfMi-wh T/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #000350 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Heterozygous or Wild-type for Mi<wh>,Heterozygous or Wild-type for W<v>,Heterozygous or Wild-type for T |
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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. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
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