Strain Name:

C57BL/6J-Nek1kat-2J/J

Stock Number:

002854

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Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Type Mutant Strain; Spontaneous Mutation;
Additional information on Genetically Engineered and Mutant Mice.
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Specieslaboratory mouse

Description
The phenotype associated with the Nek1kat-2J allele is more severe than that of the Nek1kat allele. Mice homozygous for Nek1kat-2J all die before one year of age, a third of those that survive weaning die suddenly before 100 days of age, and the reported median survival age is 211 days. Mice homozygous for Nek1kat also have a shortened life expectancy with high pre-weaning mortality and a reported median survival of 286 days, but 22% were found to survive beyond 1 year. Both mutants are runted and have blunted noses with olfactory bulbs that are approximately half the normal size and lack most of the glomerular and external granular layers. In the brain there is dilation of the lateral and third ventricles, cerebral aqueduct and fourth ventricle along with large, fluid-filled cysts in the choroid plexus. Hydrocephalus occurs. Normochromic normocytic anemia is found and is more pronounced in Nek1Kat-2J homozygotes, often detectable before weaning and progressing with age. By 7 to 8 months of age uremia with abnormally shaped erythrocytes can also be detected in the peripheral blood. The hematocrit levels of Nek1kat homozygotes is lower than normal in the young, but a significant drop occurs after approximately 200 days of age then continues to decrease. Abdominal distention occurs as a result of extensive renal enlargement. At 5 days of age microscopic examination fails to detect any morphologic change in the kidneys of either mutant, but fluid-filled cysts and dilated proximal tubules and Bowman spaces are found as early as 1 month of age in Nek1kat-2J homozygotes. The bilateral renal cystic disease progresses involving all levels of the nephron by 3 months of age, and after 6 months of age this progression becomes comparatively more rapid in the females. Disease progression includes growth of cysts and an increase in the number of cysts. Nek1kat homozygotes have similar renal cystic disease but the onset is slower relative to that in Nek1kat-2J homozygotes. (For morphologic details see Vogler et al., 1999.) Testicular hypoplasia with decreased spermatogenesis has been described for Nek1kat-2J homozygotes, and male sterility is a characteristic of both Nek1 mutants. No histological abnormalities have been described in the ovaries and homozygous females can reproduce but litters are less frequent than from wildtype or heterozygous females. Focal portal bile duct proliferation and dilation have been found in the older Nek1Kat-2J homozygotes. (Janaswami et al., 1997; Vogler et al., 1999.)

Development
The kat-2J allele arose spontaneously on the C57BL/6J background at The Jackson Laboratory in 1989 and has been maintained on this background. In 2000, C57BL/6J females were bred to heterozygous males to generate embryos for cryopreservation.

Related Strains

Strains carrying other alleles of Nek1
001271   B6.RBF(C3Fe)-Nek1kat/J
View Strains carrying other alleles of Nek1     (1 strain)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- Model with phenotypic similarity to human disease where etiologies are distinct. Human genes are associated with this disease. Orthologs of these genes do not appear in the mouse genotype(s).
Polycystic Kidney Disease, Autosomal Recessive; ARPKD
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested.
Short-Rib Thoracic Dysplasia 6 with or without Polydactyly; SRTD6   (NEK1)
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

Nek1kat-2J/Nek1kat-2J

        C57BL/6J-Nek1kat-2J/J
  • mortality/aging
  • premature death
    • all homozygotes die by 1 year of age with a median survival of 211 days   (MGI Ref ID J:59839)
  • renal/urinary system phenotype
  • abnormal renal tubule morphology   (MGI Ref ID J:134248)
  • kidney cysts
    • bilateral polycystic kidney disease with a progressive increase in the number and size of cysts in the kidney cortex, with faster progression than in kat homozygotes   (MGI Ref ID J:37799)
    • cysts seem to be dilated proximal tubules and Bowman spaces   (MGI Ref ID J:37799)
    • kidney cortex cysts   (MGI Ref ID J:37799)
    • polycystic kidney   (MGI Ref ID J:37799)
      • bilateral and symmetrical with similar exression in females and males until 6 months of age when cystic lesions advance more rapidly in femaeles   (MGI Ref ID J:59839)
      • at 5 days of age no cycsts are found, but by 1 month of age small clusters of glomerular cysts are found with dilated proximal tubules lined by eosinophilic epithelium with a brush border and cysts lined with cuboidal or flat epithelium   (MGI Ref ID J:59839)
      • with age much of the renal cortex is replaced by variably sized cysts at all levels of the nephron and the medullary tubules are dilated   (MGI Ref ID J:59839)
  • nervous system phenotype
  • abnormal cerebral aqueduct morphology   (MGI Ref ID J:37799)
  • abnormal choroid plexus morphology
    • at 7 months of age the choroid plexus has multiple large cysts present in the interstitium   (MGI Ref ID J:37799)
  • abnormal olfactory bulb morphology
    • most of the olfactory glomerular and external granular layers are absent, and in places are replaced by lacy vacuolated tissue   (MGI Ref ID J:37799)
    • small olfactory bulb
      • olfactory lobes are approximately half normal size   (MGI Ref ID J:37799)
  • dilated fourth ventricle
    • at 7 months of age the lateral, third, and fourth ventricles and cerebral aqueduct are dilated   (MGI Ref ID J:37799)
  • dilated lateral ventricles
    • at 7 months of age the lateral, third, and fourth ventricles and cerebral aqueduct are dilated   (MGI Ref ID J:37799)
  • dilated third ventricle
    • at 7 months of age the lateral, third, and fourth ventricles and cerebral aqueduct are dilated   (MGI Ref ID J:37799)
  • obstructive hydrocephaly   (MGI Ref ID J:37799)
  • endocrine/exocrine gland phenotype
  • small testis
    • at all ages assessed   (MGI Ref ID J:37799)
    • testis hypoplasia   (MGI Ref ID J:59839)
  • craniofacial phenotype
  • abnormal craniofacial morphology
    • foreshortened face, particularly the snout   (MGI Ref ID J:37799)
    • short snout   (MGI Ref ID J:37799)
    • shortened head   (MGI Ref ID J:37799)
  • reproductive system phenotype
  • abnormal spermatogenesis
    • less than normal level of spermatogenesis as assessed histologically   (MGI Ref ID J:59839)
  • male infertility
    • males are sterile   (MGI Ref ID J:37799)
  • reduced female fertility
    • female homozygotes occassionally breed and have morphologically normal ovaries   (MGI Ref ID J:37799)
  • small testis
    • at all ages assessed   (MGI Ref ID J:37799)
    • testis hypoplasia   (MGI Ref ID J:59839)
  • growth/size/body phenotype
  • decreased birth body size
    • runts at birth   (MGI Ref ID J:37799)
  • decreased body size
    • although homozygotes gain weight with age, thay are consistently smaller than controls throughout their lives and have abdominal distention from the enlarged kidneys   (MGI Ref ID J:59839)
    • decreased body length   (MGI Ref ID J:59839)
  • short snout   (MGI Ref ID J:37799)
  • shortened head   (MGI Ref ID J:37799)
  • hematopoietic system phenotype
  • anemia   (MGI Ref ID J:37799)
    • hematocrit falls progressively as homozygotes age and many are anemic before they are weaned   (MGI Ref ID J:59839)
  • poikilocytosis
    • marked by 7 to 8 months of age   (MGI Ref ID J:59839)
  • homeostasis/metabolism phenotype
  • increased blood urea nitrogen level
    • marked by 7 months of age   (MGI Ref ID J:59839)
View Research Applications

Research Applications
This mouse can be used to support research in many areas including:

Nek1kat-2J related

Developmental Biology Research
Craniofacial and Palate Defects
Growth Defects
Internal/Organ Defects
      brain
      gonads
      kidney
Neurodevelopmental Defects
Postnatal Lethality

Hematological Research
Anemia, Iron Deficiency and Transport Defects

Internal/Organ Research
Kidney Defects

Neurobiology Research
Neurodevelopmental Defects

Reproductive Biology Research
Developmental Defects Affecting Gonads
Fertility Defects

Sensorineural Research
Olfactory Defects

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Nek1kat-2J
Allele Name kidney, anemia and testis 2 Jackson
Allele Type Spontaneous
Common Name(s) kat2J; kat2J;
Strain of OriginC57BL/6J
Gene Symbol and Name Nek1, NIMA (never in mitosis gene a)-related expressed kinase 1
Chromosome 8
Gene Common Name(s) D8Ertd790e; DNA segment, Chr 8, ERATO Doi 790, expressed; NY-REN-55; SRPS2; SRPS2A; SRTD6; kat; kidney, anemia and testis;
General Note 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).
Molecular Note G insertion at position 966 causes frameshift and premature stop [MGI Ref ID J:59363]

Genotyping

Genotyping Information

Genotyping Protocols

Nek1kat-2J Endpoint, End Point Analysis


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Arama E; Yanai A; Kilfin G; Bernstein A; Motro B. 1998. Murine NIMA-related kinases are expressed in patterns suggesting distinct functions in gametogenesis and a role in the nervous system. Oncogene 16(14):1813-23. [PubMed: 9583679]  [MGI Ref ID J:47160]

Janaswami PM; Birkenmeier EH; Cook SA; Rowe LB; Bronson RT; Davisson MT. 1997. Identification and genetic mapping of a new polycystic kidney disease on mouse chromosome 8. Genomics 40(1):101-7. [PubMed: 9070925]  [MGI Ref ID J:37799]

Letwin K; Mizzen L; Motro B; Ben-David Y; Bernstein A; Pawson T. 1992. A mammalian dual specificity protein kinase, Nek1, is related to the NIMA cell cycle regulator and highly expressed in meiotic germ cells. EMBO J 11(10):3521-31. [PubMed: 1382974]  [MGI Ref ID J:2376]

Tanaka K; Parvinen M; Nigg EA. 1997. The in vivo expression pattern of mouse Nek2, a NIMA-related kinase, indicates a role in both mitosis and meiosis. Exp Cell Res 237(2):264-74. [PubMed: 9434622]  [MGI Ref ID J:45011]

Upadhya P; Birkenmeier EH; Birkenmeier CS; Barker JE. 2000. Mutations in a NIMA-related kinase gene, Nek1, cause pleiotropic effects including a progressive polycystic kidney disease in mice. Proc Natl Acad Sci U S A 97(1):217-21. [PubMed: 10618398]  [MGI Ref ID J:59363]

Nek1kat-2J related

Guay-Woodford LM. 2003. Murine models of polycystic kidney disease: molecular and therapeutic insights. Am J Physiol Renal Physiol 285(6):F1034-49. [PubMed: 14600027]  [MGI Ref ID J:87130]

Janaswami PM; Birkenmeier EH; Cook SA; Rowe LB; Bronson RT; Davisson MT. 1997. Identification and genetic mapping of a new polycystic kidney disease on mouse chromosome 8. Genomics 40(1):101-7. [PubMed: 9070925]  [MGI Ref ID J:37799]

Shalom O; Shalva N; Altschuler Y; Motro B. 2008. The mammalian Nek1 kinase is involved in primary cilium formation. FEBS Lett 582(10):1465-70. [PubMed: 18387364]  [MGI Ref ID J:134248]

Upadhya P; Birkenmeier EH; Birkenmeier CS; Barker JE. 2000. Mutations in a NIMA-related kinase gene, Nek1, cause pleiotropic effects including a progressive polycystic kidney disease in mice. Proc Natl Acad Sci U S A 97(1):217-21. [PubMed: 10618398]  [MGI Ref ID J:59363]

Upadhya P; Churchill G; Birkenmeier EH; Barker JE; Frankel WN. 1999. Genetic modifiers of polycystic kidney disease in intersubspecific KAT2J mutants. Genomics 58(2):129-37. [PubMed: 10366444]  [MGI Ref ID J:55632]

Vogler C; Homan S; Pung A; Thorpe C; Barker J; Birkenmeier EH; Upadhya P. 1999. Clinical and pathologic findings in two new allelic murine models of polycystic kidney disease. J Am Soc Nephrol 10(12):2534-9. [PubMed: 10589692]  [MGI Ref ID J:59839]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


Pricing for USA, Canada and Mexico shipping destinations View International Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $3300.00
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.

    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

Pricing for International shipping destinations View USA Canada and Mexico Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $4290.00
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.

    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

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