This spontaneous mutation has not yet been characterized at the molecular level, but it causes small body size, splaying of the hind legs, ataxia, and pre-wean lethality.Read More +
Mice homozygous for this recessive mutation have a small, runted body and lack of vitality. They splay their hind legs and are ataxic, with a few displaying head leaning and slow circling. Homozygotes usually die by three weeks of age. Fewer homozygotes are recorded from heterozygous intercrosses than the 25% predicted by Mendelian inheritance, likely due to embryonic or perinatal lethality.
The mutation unsteady small lethal arose spontaneously on the MRL/MpJ-Faslpr/J strain at The Jackson Laboratory and was backcrossed onto the C57BL/6J background. This congenic strain reached generation N6 in 2013.
|Allele Name||unsteady small lethal|
|Allele Type||Spontaneous (Not Specified)|
|Gene Symbol and Name||Cntn1, contactin 1|
|Strain of Origin||MRL/MpJ-Faslpr/J|
|Molecular Note||A G-to-A point mutation at postition 1091 of the cDNA (NM_001159647) results in premature truncation at position 364 of the encoded protein (p.W364*).|
Due to pre-wean lethality of homozygotes this strain is maintained by intercrossing heterozygotes.
When using the unsteady small lethal mouse strain in a publication, please cite the originating article(s) and include JAX stock #023062 in your Materials and Methods section.