Nek1^kat-2J
Spontaneous Allele Detail

Summary

• Symbol: Nek1^kat-2J
• Name: NIMA (never in mitosis gene a)-related expressed kinase 1; kidney, anemia and testis 2 Jackson
• MGI ID: MGI:1858122
• Synonyms: kat^2J, kat2J
• Gene: Nek1 Location: Chr8:61446229-61584380 bp, + strand Genetic Position: Chr8, 30.91 cM
• Alliance: Nek1^kat-2J page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Spontaneous
• Mutation: Insertion
• G insertion at position 966 causes frameshift and premature stop (J:59363)
• Inheritance: Recessive

Disease models

Expression

In Mice Carrying this Mutation:	21 assay results
In Structures Affected by this Mutation:	12 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Nek1 Mutation: 84 strains or lines available

Notes

Homozygous mutant mice have a latent onset, slowly progressing form of polycystic kidney disease (PKD) with renal pathology similar to the human autosomal-dominant PKD OMIM 173900, OMIM 600666). In addition, mutant mice show pleiotropic effects that include facial dysmorphism, dwarfing, male sterility, anemia, and cystic choroid plexus (J:59363).

References

• Original: J:37799 Janaswami PM, et al., Identification and genetic mapping of a new polycystic kidney disease on mouse chromosome 8. Genomics. 1997 Feb 15;40(1):101-7
• All: 13 reference(s)