These mice carry the spontaneous Myo15sh2-J (shaker 2 Jackson) mutation along with the Dock7m and diabetes Leprdb spontaneous mutations, and are characterized by a phenotype very similar to the behavior and pathology of shaker-1.Read More +
Mice homozygous for the shaker 2 Jackson spontaneous mutation (Myo15sh2-J) are viable and fertile, showing only a slight reduction in both compared to wild-type mice. The shaker 2 Jackson remutation is not visibly different from the original shaker 2 (Myo15sh2, Stock No. 000109). Homozygous mutant mice of both alleles display a phenotype very similar to the behavior and pathology to shaker-1 (Myo7ash1) with the exception that the abnormalities are observed a little earlier in shaker 2 mice. This strain is also carrying the misty (Dock7m) and diabetes (Leprdb) spontaneous mutations.
|Gene Symbol and Name||Dock7, dedicator of cytokinesis 7|
|Strain of Origin||DBA/J|
|Molecular Note||Crosses between mice homozygous for misty and for moonlight, which mapped to overlapping critical regions on Chr 4, demonstrated failure of the two mutations to complement one another. Once moonlight had been identified as a mutation of Dock7 (Dock7mnlt), sequence analysis of this gene from misty mice revealed a retrotransposon LTR insertion following nucleotide 2045 (numbering from the A of the transcription initiation codon) that interrupts exon 18 and shifts the reading frame after codon 682 so that ten incorrect amino acids are incorporated into the protein before its premature termination.|
|Allele Name||shaker 2 Jackson|
|Gene Symbol and Name||Myo15, myosin XV|
|Strain of Origin||BKS.Cg-Dock7m +/+ Leprdb/J|
|General Note||This remutation at the Myo15 locus occurred in the C57BLKS-Leprdb m colony at The Jackson Laboratory. A direct breeding test for allelism between a homozygous Myo15sh2-J mutant and a Myo15sh2 homozygote yielded all affected progeny. The visible phenotype does not differ from that of Myo15sh2 homozygotes (J:28675).|
|Allele Synonym(s)||db; db/db; Lepdb; Lepr-; Leprdb-1J; leprdb|
|Gene Symbol and Name||Lepr, leptin receptor|
|Strain of Origin||C57BLKS/J|
|General Note|| |
Phenotypic Similarity to Human Syndrome: Gestational Diabetes J:219658
|Molecular Note||An intronic G-to-T transversion in this allele created a donor splice site that causes abnormal splicing and the inclusion of 106 nt of intronic sequence in the transcript, leading to premature termination of the long cellular domain of the Ob-Rb splice form and loss of its signal transducing function.|
When using the shaker 2 Jackson mouse strain in a publication, please cite the originating article(s) and include JAX stock #002048 in your Materials and Methods section.
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