Nek1<kat-2J> Spontaneous Allele Detail MGI Mouse (MGI:1858122)

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

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

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)

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