Mice homozygous for the spontaneous mutation curvy tail (curt) display an S-shaped tail, crooked digits, small body size, "squinty" eyes and hearing loss. In heterozygote crosses, the number of homozygous progeny born (17%) does not reach the expected Mendelian ratio with nearly 4% of homozygotes stillborn. Surviving homozygotes die by 3 months of age.
This mutant mouse strain may be useful in studies of developmental and skeletal abnormalities.
The curvy tail mutation arose spontaneously on the SWR/J-Clcn1adr-mto/J coisogenic background at The Jackson Laboratory in 2002 when that subline was at generation +F81. The curvy tail subline has been maintained by sibling intercrossing progeny tested heterozygotes and the Clcn1adr-mto mutation was bred out of this mutant subline in 2005. In 2011 this strain reached generation +F19.
|Allele Name||curvy tail|
|Gene Symbol and Name||Clec16a, C-type lectin domain family 16, member A|
|Strain of Origin||SWR/J-Clcn1adr-mto/J|
|Molecular Note||This spontaneous mutation presents as a 4 base pair deletion in exon 21 at chromosome 16 position 10,694,632-635 bp (GRCm38), which results in a frameshift mutation that leads to the introduction of novel amino acids and an early termination codon. Transcript levels of this mutant allele were found to be significantly decreased in homozygous embryonic fibroblasts.|