This strain is segregating for Myo5ad-l and Bmp5se, which are maintained in repulsion.
Mice homozygous for the dilute-lethal spontaneous mutation (Myo5ad-l) display a severe neuromuscular disorder characterized by convulsions and opisthotonus. Homozygous mutant mice usually die by approximately 3 weeks of age. Dilute lethal homozygotes lack smooth endoplasmic reticulum in the dendritic spine of Purkinje cells causing an absence of intracellular calcium. Loss of this intracellular calcium may be the cause of dilute-lethal neurological symptoms. Homozygous dilute-neurological mutant mice (Myo5ad-n, Stock No. 001013) display a neuromuscular disorder, but the condition is less severe than in dilute-lethal homozygotes. In this DLS/Le inbred strain the dilute-lethal mutation is maintained in repulsion with short ear (Bmpse), closely linked mutations on Chromosome 9.
|Allele Name||dilute lethal|
|Gene Symbol and Name||Myo5a, myosin VA|
|Strain of Origin||C57BL/Gr|
|General Note||Myo5ad-l, dilute-lethal, recessive. Dilute-lethal arose in the C57BL/Gr strain. The color of Myo5ad-l homozygotes is identical to that of Myo5ad homozygotes, but dilute-lethal mice develop a severe neuromuscular disorder characterized by convulsions and opisthotonus (arching upward of the head and tail), and they usually die at about 3 weeks of age (J:12978).|
|Molecular Note||This Myo5a allele was identifed by a noncomlementation test result with Myo5ad.|
|Allele Name||short ear|
|Gene Symbol and Name||Bmp5, bone morphogenetic protein 5|
|Strain of Origin||mice from Abbie Lathrop mouse farm|
|General Note||Phenotypic Similarity to Human Syndrome: Ear, Patella, Short Stature Syndrome (Meier-Gorlin Syndrome) in homozygous mice (J:24474)|
|Molecular Note||The C to T substitution creates a stop codon at arginine codon 208 (p.R208*). The resulting truncated protein does not include the carboxy terminal signaling portion of the molecule.|
When using the dilute lethal short ear mouse strain in a publication, please include JAX stock #000253 in your Materials and Methods section.