C57BL/6J-Nek8^jck/J

Stock number: 002561
Product name: juvenile cystic kidney
Research areas: Developmental Biology Research, Internal/Organ Research

Description

These mice carry the Nek8^jck spontaneous mutation characterized by polycystic kidney disease.

Detailed description

Mice homozygous for the Nek8^jck 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

Symbol: Nek8^jck
Name: juvenile cystic kidney
MGI accession ID: MGI:1856919
Generation method: Spontaneous
Marker symbol: Nek8
Marker name: NIMA (never in mitosis gene a)-related expressed kinase 8
Chromosome: 11
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).