B6C3Fe a/a-Eif3c^Xs-J/J

Stock number: 001750
Product name: extra toes spotting Jackson
Research areas: Dermatology Research, Developmental Biology Research

Description

These mice carry a spontaneous mutation at the Eif3c locus characterized by anterior polydactyly, predominantly in the forelimbs, with ventral hypopigmenation.

Detailed description

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. Eif3c^Xs-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.

Development

The mutation extra-toes spotting Jackson (Xs^J) 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.

Allele

Symbol: Eif3c^Xs-J
Name: extra toes spotting Jackson
MGI accession ID: MGI:1856274
Generation method: Spontaneous
Marker symbol: Eif3c
Marker name: eukaryotic translation initiation factor 3, subunit C
Marker synonyms: 110kDa; 3230401O13Rik; eIF3 p110; EIF3CL; eIF3-p110; Eif3s8; NIPIL(A3); Xs; Xsl
Chromosome: 7
Strain of origin: C3H/HeJ
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.
General note: Salient features inferred from noncomplementaton test result report.

Allele

Symbol: a
Name: nonagouti
MGI accession ID: MGI:1855937
Generation method: Spontaneous
Marker symbol: a
Marker name: nonagouti
Marker synonyms: agouti; agouti signal protein; AGSW; AGTI; AGTIL; As; ASP; SHEP9
Chromosome: 2
Strain of origin: old mutant of the mouse fancy
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 a^t-2Gso and A^w-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.
General note: Insertion of the LV30 retrotransposon without the beta4 retrovirus sequence does not cause the nonagouti phenotype. J:278039