Mice homozygous for the Nek8jck mutation develop polycystic kidney disease. Histology revealed that the kidneys of some 3 day old pups from heterozygous parents had small isolated cysts lined by cuboidal epithelial cells, and 15 day old pups had cysts lined by flattened epithelia. Disease is progressive but not evident by kidney palpation until at least 4 to 5 weeks of age. Homozygotes generally remain active until shortly before death and usually die between 20 and 25 weeks of age. Homozygous females are fertile but do not consistently care for their litters; homozygous males are fertile but decreased fertility is reported after 15 weeks of age. No histologic abnormalities were found in the liver, spleen, or pancreas. (Atala et al., 1993)
|Allele Name||juvenile cystic kidney|
|Allele Synonym(s)||jck; Nek8-|
|Gene Symbol and Name||Nek8, NIMA (never in mitosis gene a)-related expressed kinase 8|
|Strain of Origin||C57BL/6J Tg 147-9a|
|Molecular Note||The mutation in jck mice has been identified as a double nucleotide substitution (c.1341G>T and c.1343G>T). While c.1341G>T is a silent mutation in the last base of the leucine codon at position 447, the c.133G>T mutation in the second base of evolutionary conserved glycine codon 448 in the C-terminal domain of the protein results in it changing to valine (p.G448V).|
When using the juvenile cystic kidney mouse strain in a publication, please cite the originating article(s) and include JAX stock #002561 in your Materials and Methods section.