Mice homozygous for the mesenchymal dysplasia spontaneous mutation (mes) have a shortened face, wide set eyes, excessive skin, belly spot, kinked tail, preaxial polydactyly, and thickened foot pads. Homozygous mutant mice also display mineralization of tendons and multiple skeletal defects. Both sexes are infertile. Male mice have cryptorchid testes.
The mesenchymal dysplasia (mes) mutation arose spontaneously in 1981 on the CBA/J background at The Jackson Laboratory. Due to the sterility in homozygotes this mutation was maintained by cross-intercross breeding using ovarian transplantation from homozygous females and breeding the host females with B6C3Fe-a/a males then intercrossing their heterozygous offspring to generate homozygous females for ovarian transplantation (Sweet HO; Bronson RT, 1981). In 2004 this colony reached generation N40F1.
|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||mesenchymal dysplasia|
|Allele Synonym(s)||mes; Ptcmes|
|Gene Symbol and Name||Ptch1, patched 1|
|Strain of Origin||CBA/J|
|Molecular Note||A 32bp deletion causes a frameshift mutation, which generates a truncated protein with an aberrant 68-amino acid stretch in the C terminal cytoplasmic domain.|
When using the mesenchymal dysplasia mouse strain in a publication, please cite the originating article(s) and include JAX stock #001430 in your Materials and Methods section.