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Strain Name:

C57BL/6J-Aqp2cph/J

Stock Number:

000530

Availability:

Repository-Cryopreserved

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General Terms and Conditions

Former Name      C57BL/6J-cph/J    (Changed: 27-JUL-06 )
Genes & Alleles   Aqp2;   Aqp2cph;

Product Information

Strain Details

Type JAX® GEMM® Strain - Mutant Strain
Additional information on JAX® GEMM® Strains.
Type JAX® GEMM® Strain - Spontaneous Mutation
Specieslaboratory mouse
GenerationF131N8F1N1p

Appearance
black
Related Genotype: a/a

Strain Development
The Aqp2cph mutation (initially called jpk) arose spontaneously at The Jackson Laboratory in 1973 on the C57BL/6J background, which was then at F131. Aqp2cph has been maintained on the C57BL/6J background primarily through backcross-intercross breeding. In approximately 1987 C57BL/6J females were bred with homozygous males at F131+N8F1 to generate embryos for cryopreservation.

Related Disease (OMIM) Terms

Diabetes Insipidus, Nephrogenic, Autosomal
Mammalian Phenotype Terms assigned by genotype

Aqp2cph/Aqp2cph

        C57BL/6J-Aqp2cph
  • life span-post-weaning/aging
  • premature death (MGI Ref ID J:13746)
    • few live beyond 2 months of age
    • most die by 1 to 2 months of age but a few survive to adulthood and can breed
    • 90% die between 2 to 4 weeks of age while the remaining 10% survive past weaning with the oldest reaching 10 months of age
  • renal/urinary system phenotype
  • abnormal kidney excretion (MGI Ref ID J:109463)
    • fail to concentrate urine in response to [deamino-Cys1, D-Arg8]-vasopressin treatment; however, there is no significant difference in the excretion of Na and K as indicated by urinary sodium creatinine and potassium/creatinine ratios
  • abnormal kidney morphology (MGI Ref ID J:9451)
    • at P10, focal loss of the parenchyma is seen
    • pathological changes related to obstructive nephropathy
    • abnormal kidney collecting duct (MGI Ref ID J:109463)
      • parenchymal atrophy
      • dilated kidney collecting duct (MGI Ref ID J:109463)
    • abnormal kidney medulla morphology (MGI Ref ID J:9451)
      • by P20 medullary tissue is generally absent except at the base of the papillae and a thin rim of focal remnants surrounding the enlarged caliceal space
      • abnormal kidney pyramid morphology (MGI Ref ID J:9451)
        • at P10, partial erosion of the pyramids is seen
        • abnormal kidney papilla morphology (MGI Ref ID J:9451)
          • at P1, slight erosion of the renal papillae is seen with the average diameter reduced to 0.32 mm compared to 0.45 mm in control mice
          • as mice age a progressive widening of the caliceal space and narrowing of the papillar diameter is seen
    • abnormal kidney pelvis morphology (MGI Ref ID J:109463)
      • erosion probably the result of obstructive nephropathy
      • abnormal calyx morphology (MGI Ref ID J:9451)
        • starting at P1, progressive widening of the calyceal space and narrowing of the papillar diameter is seen
        • expansion of the pelvicocaliceal space
      • hydronephrosis (MGI Ref ID J:9451)
        • by 20 days of age in most mice both kidneys are massively enlarged and appear as tense, fluid-filled shells with cortical and medullary wasting
        • mice under 14 days of age show unilateral or bilateral hydronephrosis while almost all mice older than 14 days show severe bilateral hydronephrosis
        • about 66% of mice have more severe defects in the right kidney, about 23% have more defects in the left kidney and 11% have both kidneys equally affected
        • however, in most cases there does not appear to be a physical blockage of urine transport
  • abnormal urine color (MGI Ref ID J:9451)
    • by 2 weeks of age urine is colorless
  • hydroureter (MGI Ref ID J:109463)
    • hydroureter and an apparent obstruction of the ureterovesical junction are seen in only about 25% of mice
  • homeostasis/metabolism phenotype
  • abnormal blood chemistry (MGI Ref ID J:109463)
    • elevated serum osmolality
    • increased blood urea nitrogen level (MGI Ref ID J:109463)
      • at P20
  • abnormal urine color (MGI Ref ID J:9451)
    • by 2 weeks of age urine is colorless
  • behavior/neurological phenotype
  • lethargy (MGI Ref ID J:109463)
    • by 2 weeks of age
  • growth/size phenotype
  • decreased body size (MGI Ref ID J:9451)
    • visible almost from birth
    • by P8
    • decreased body weight (MGI Ref ID J:9451)
      • at 15 days of age average weight is 4.10 g compared to 7.25 g for control littermates
      • at 20 days of age average weight is 4.98 g compared to 12.51 g for control littermates
      • by P8
  • distended abdomen (MGI Ref ID J:109463)
    • enlarged abdomen at 2 weeks of age
  • postnatal growth retardation (MGI Ref ID J:109463)
  • skin/coat/nails phenotype
  • alopecia (MGI Ref ID J:9451)
    • by 2 weeks of age
  • reproductive system phenotype
  • infertility (MGI Ref ID J:109463)
    • adults are either infertile or show mildly reduced fertility
  • reduced fertility (MGI Ref ID J:109463)
    • adults are either infertile or show mildly reduced fertility

Gene & Allele Details

Allele Symbol Aqp2cph
Allele Name congenital progressive hydronephrosis
Common Name(s) cph; jpk;
Strain of OriginC57BL/6J
Gene Symbol and Name Aqp2, aquaporin 2
Chromosome 15
Gene Common Name(s) AQP-2; AQP-CD; MGC156502; MGC34501; WCH-CD; aquaporin-2; congenital progressive hydronephrosis; cph; jpk; juvenile polycystic kidneys;
General Note Phenotypic Similarity to Human Syndrome: Congenital Obstructive Nephropathy
Molecular Note A mutation occurred in exon 4 converting the C at nucleotide 767 into a T resulting in a serine to leucine substitution. Apical accumulation of the protein is lost in the renal collecting ducts of homozygotes. [MGI Ref ID J:109463]

Control Information

  Control
   Untyped from the colony
 
  Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Aqp2
006881   B6.Cg-Tg(Aqp2-cre)1Dek/J
005921   C57BL/6J-Aqp2F204V/J
View Strains carrying other alleles of Aqp2     (2 strains)

Research Applications

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

Aqp2cph related

Developmental Biology Research
Internal/Organ Defects (hydronephrosis)

Internal/Organ Research
Kidney Defects

References

Additional References

Price and Supply Information

Strain Name: C57BL/6J-Aqp2cph/J
Stock Number: 000530

Price Details

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Supply Details

Standard SupplyRepository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information.
Supply Notes Cryorecovery - Standard.
The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two males and two females (two pairs) will be provided, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery.

Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services: Tel: 1-800-422-6423 or 1-207-288-5845; Email: jaxservices@jax.org.
Genomic DNA is available for this strain from the Mouse DNA Resource.

LicensingSee General Terms and Conditions below  
Control InformationView Control Information in Strain Details.

General Terms and Conditions

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The Jackson Laboratory's Genotype Promise

The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.
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