This stock carries two spontaneous mutations, MitfMi-wh (white) and Itpr1opt (opisthotonus), that affect eye and coat pigmentation, and body movement and balance respectively.
Read More +Genetic Background | Generation |
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Allele Type | Gene Symbol | Gene Name |
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Spontaneous | a | nonagouti |
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 | Itpr1 | inositol 1,4,5-trisphosphate receptor 1 |
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 homozygous for the opisthotonus spontaneous mutation (Itpr1opt) display a characteristic upward arching of head and tail. Homozygous mutant mice can be recognized at about 10 days of age by their loss of balance when standing or moving. Typical behavior of 15 to 20 day old homozygotes consists of falling over and struggling to get up. Agitation and severe opisthotonus ensue with death occuring by weaning age or before.
Allele Name | nonagouti |
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Allele Type | Spontaneous |
Allele Synonym(s) | |
Gene Symbol and Name | a, nonagouti |
Gene Synonym(s) | |
Strain of Origin | old mutant of the mouse fancy |
Chromosome | 2 |
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 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 | opisthotonus |
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Allele Type | Spontaneous |
Allele Synonym(s) | Itpr-1opt |
Gene Symbol and Name | Itpr1, inositol 1,4,5-trisphosphate receptor 1 |
Gene Synonym(s) | |
Strain of Origin | C57BLKS-Leprdb-2J |
Chromosome | 6 |
Molecular Note | The molecular defect underlying the phenotype in the opisthotonus mouse involves a genomic deletion that alters the Itpr1 protein. The genomic deletion removes the first two exons from the mRNA, but does not disrupt the translational reading frame. The protein is reduced in expression and is predicted to have lost several modulatory sites. |
Mitf and Itpropt are linked on chromosome 6 and are maintained in repulsion in this strain. Iptropt/opt die by wean age. MitfMi-wh/Mi-wh are white and MitfMi-wh/+ are black with a white head dot and belly spot.
When using the STOCK a/a MitfMi-wh +/+ Itpr1opt/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #000302 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Homozygous for a, Heterozygous for Mi<Wh>, Heterozygous for opt |
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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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