This strain is homozygous for at and segregating for Edn3ls.
Mice homozygous for the lethal spotting mutation (Edn3ls) resemble piebald mice (Ednrbs/Ednrbs) mice. Homozygous mutant mice exhibit considerable white spotting and like homozygotes for the piebald-lethal allele (Ednrbs-l) usually develop megacolon. Lethal spotting mutant mice usually die in the third week of life from the megacolon abnormality, which is associated with deficiency of intrinsic ganglion cells in the lower colon. A few homozygotes may survive and breed. This strain is also homozygous for the black and tan coat color mutation (at).
|Allele Name||black and tan|
|Gene Symbol and Name||a, nonagouti|
|Strain of Origin||English fancy stock|
|General Note||This allele is recessive to A and Aw on the dorsum and dominant to all agouti alleles on the ventrum except for Aw from which it is indistinguishable (J:78801) .|
|Molecular Note||This allele comprises a 6 kb insertion containing a retrovirus-like transposable element VL30 and a single 526 bp repeat into the first intron of the agouti gene at the same position as for alleles a and Aw.|
|Allele Name||lethal spotting|
|Gene Symbol and Name||Edn3, endothelin 3|
|Strain of Origin||C57BL-at|
|General Note||Lethal spotting mutant mice usually die in the third week of life from the megacolon abnormality, which is associated with deficiency of intrinsic ganglion cells in the lower colon. A few homozygotes may survive and breed. |
Other alleles of this gene serve as models for WAARDENBURG-SHAH SYNDROME. This allele was not studied in this context.
|Molecular Note||RT-PCR analysis of this allele revealed a missense C-to-T change at coding nucleotide 409, which results in a substitution of the Arg-137 residue with a Trp residue (p.R137W).|
When using the LS/LeJ mouse strain in a publication, please include JAX stock #000262 in your Materials and Methods section.