These MitfMi mutant mice are characterized by small eyes, and lack of pigment in the eyes, inner ear, and skin, and early deafness. White spotting on the belly, head, and tail are common.Read More +
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.
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.
|Allele Synonym(s)||nonagouti; a|
|Gene Symbol and Name||a, nonagouti|
|Gene Synonym(s)||agouti signal protein; As; ASP; As; agouti; agouti suppressor; AGTI; SHEP9; AGSW; AGTIL|
|Strain of Origin||old mutant of the mouse fancy|
|General Note||Insertion of the LV30 retrotransposon without the beta4 retrovirus sequence does not cause the nonagouti phenotype. J:278039|
|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 (beta4 retroviral sequence). 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.|
|Allele Synonym(s)||MitfMi; microphthalmia|
|Gene Symbol and Name||Mitf, melanogenesis associated transcription factor|
|Gene Synonym(s)||bHLHe32; BCC2; black eyed white; bw; Gsfbcc2; CMM8; Gsfbcc2; WS2; WS2A; MI; gsf bright coat colour 2; microphthalmia; mi; vit; wh; vitiligo; mi; COMMAD|
|Strain of Origin||Not Specified|
|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.|
When using the microphthalmia mouse strain in a publication, please cite the originating article(s) and include JAX stock #001573 in your Materials and Methods section.
|Heterozygous or wildtype for Mitf<Mi>|
A molecular assay to genotype this strain is not available. We will fulfill your order by providing at least two untested males and two untested females (two pairs). The total number, sex, and genotypes will vary, although typically 8 or more mice are provided. Untested animals typically are available to ship between 10 and 14 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 may be required – If recovered animals do not display a phenotype, progeny testing will be required. This testing involves breeding the recovered animals and assessing the phenotype of the offspring in order to identify animals carrying the mutation of interest. 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. We 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.
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