Mice homozygous for the postaxial hemimelia Jackson mutation have malformed, shortened forelimbs and missing or shortened digits of the front feet. A few have missing digits from the hind feet. Both males and females are sterile although ovaries from homozygotes can be successfully used in ovarian transplantation for breeding and sperm from homozygotes can be used successfully for in vitro fertilization, although it appears to have reduced motility.
Postaxial hemimelia Jackson arose spontaneously in the C57BL/6J inbred strain at The Jackson Laboratory where it was identified in 2007. This mutation has been maintained on this inbred background ever since.
|Allele Name||postaxial hemimelia Jackson|
|Gene Symbol and Name||Wnt7a, wingless-type MMTV integration site family, member 7A|
|Strain of Origin||C57BL/6J|
|Molecular Note||This spontaneous mutation in chromosome 6 has a G-to-A transition at 91,394,552 (GRCm38) causing the replacement of arginine with tryptophan at amino acid 143 (p.R143W), and also has a 23,106 bp intragenic deletion, 91,371,385-91,394,492, that encompasses a portion of exon 3 and removes the 5' end of intron 3 including the splice donor site.|
Hosts of homozygous ovarian transplants are bred to C57BL/6J males or unaffected male siblings of the donor and the resulting obligate heterozygotes are intercrossed to generate homozygotes.
When using the C57BL/6J-Wnt7apx-J/GrsrJ mouse strain in a publication, please cite the originating article(s) and include JAX stock #016098 in your Materials and Methods section.