These mice carry a spontaneous mutation at the Eif3c locus characterized by anterior polydactyly, predominantly in the forelimbs, with ventral hypopigmenation.Read More +
The extra-toes spotting mouse phenotype manifests anterior polydactyly, predominantly in the forelimbs, with ventral hypopigmenation. A C-to-T point mutation in exon 9 results in a premature stop codon in a nonterminal exon in the encoded protein. A 50% reduction in total Eif3c mRNA levels is seen in homozygous animals. Eif3cXs-J mouse embryos have ectopic Shh and Ptch1 expression in the anterior limb. In addition, anterior limb buds show aberrant Gli3 processing, consistent with perturbed SHH/GLI3 signaling.
The mutation extra-toes spotting Jackson (XsJ) arose spontaneously at The Jackson Laboratory in 1984 on the C3H/HeJ background strain (Sweet, HO 1993). The colony was maintained by crossing heterozygote females to B6C3Fe-a/a F1 males. In 1990 the colony reached generation N28 and embryos were produced for cryopreservation by crossing heterozygote males to wildtype littermates.
|Gene Symbol and Name||a, nonagouti|
|Strain of Origin||old mutant of the mouse fancy|
|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||extra toes spotting Jackson|
|Gene Symbol and Name||Eif3c, eukaryotic translation initiation factor 3, subunit C|
|Strain of Origin||C3H/HeJ|
|General Note||Salient features inferred from noncomplementaton test result report.|
|Molecular Note||This allele was identified by a noncomplementation test result with Xs. A C-to-T point mutation (G-to-A on forward strand) in exon 9 results in a premature stop codon at arginine codon 303 (p.R303*). A a 50% reduction in total Eif3c mRNA levels is seen in homozygous animals.|