B6 x C57BLKS-Dock7^m Lepr^db Myo15^sh2-J/J

Stock number: 002048
Product name: shaker 2 Jackson
Research areas: Dermatology Research, Diabetes and Obesity Research, Endocrine Deficiency Research, Immunology, Inflammation and Autoimmunity Research, Internal/Organ Research, Metabolism Research, Mouse/Human Gene Homologs, Neurobiology Research, Reproductive Biology Research, Sensorineural Research

Description

These mice carry the spontaneous Myo15a^sh2-J (shaker 2 Jackson) mutation along with the Dock7^m and diabetes Lepr^db spontaneous mutations, and are characterized by a phenotype very similar to the behavior and pathology of shaker-1.

Detailed description

Mice homozygous for the shaker 2 Jackson spontaneous mutation (Myo15a^sh2-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 (Myo15a^sh2, Stock No. 000109). Homozygous mutant mice of both alleles display a phenotype very similar to the behavior and pathology to shaker-1 (Myo7a^sh1) with the exception that the abnormalities are observed a little earlier in shaker 2 mice. This strain is also carrying the misty (Dock7^m) and diabetes (Lepr^db) spontaneous mutations.

Allele

Symbol: Dock7^m
Name: misty
MGI accession ID: MGI:1856946
Generation method: Spontaneous
Marker symbol: Dock7
Marker name: dedicator of cytokinesis 7
Chromosome: 4
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 (Dock7^mnlt), 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

Symbol: Myo15a^sh2-J
Name: shaker 2 Jackson
MGI accession ID: MGI:1889795
Generation method: Spontaneous
Marker symbol: Myo15a
Marker name: myosin XVA
Chromosome: 11
Strain of origin: BKS.Cg-Dock7^m +/+ Lepr^db/J
General note: This remutation at the Myo15 locus occurred in the C57BLKS-Lepr^db m colony at The Jackson Laboratory. A direct breeding test for allelism between a homozygous Myo15^sh2-J mutant and a Myo15^sh2 homozygote yielded all affected progeny. The visible phenotype does not differ from that of Myo15^sh2 homozygotes (J:28675).

Allele

Symbol: Lepr^db
Name: diabetes
MGI accession ID: MGI:1856009
Generation method: Spontaneous
Marker symbol: Lepr
Marker name: leptin receptor
Chromosome: 4
Strain of origin: C57BLKS/J
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.
General note:

Phenotypic Similarity to Human Syndrome: Gestational Diabetes J:219658