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 Stock; Targeted Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse   Donating Investigator Allan Bradley,   Baylor College of Medicine

Description
Mice homozygous for this mutation are viable and fertile although about 65% of homozygous mice die by 4 weeks of age unless maintained on allopurinol. Homozygous mice show severe hyperuricemia and urate nephropathy.

Development
Exon 3 of the Uox gene was disrupted using a vector containing the neo resistance gene. The 129-derived AB1 ES cell line was used.

Control Information

	Control
	101045 B6129SF2/J	(approximate)
Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Uox

001378

B6;D2-In(3)55Rk Uoxin/J

View Strains carrying other alleles of Uox     (1 strain)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI

Diabetes Insipidus, Nephrogenic, Autosomal - Models with phenotypic similarity to human disease where etiologies are distinct.2

2 Human genes are associated with this disease. Orthologs of those genes do not appear in the mouse genotype(s).

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

Uox^tm1Bay/Uox^tm1Bay

        involves: 129S7/SvEvBrd * C57BL/6J

• mortality/aging
• premature death
  • 65% die within 4 weeks of age on the mixed 129S7/SvEvBrd and C57BL/6J background while a higher rate of lethality is seen on a 129/Sv background   (MGI Ref ID J:16490)
• homeostasis/metabolism phenotype
• abnormal urine color
  • mutants as young as 10 to 12 days of age produce copious pale urine   (MGI Ref ID J:103187)
• crystalluria
  • crystals appear rapidly as urine cools   (MGI Ref ID J:103187)
• decreased urine osmolality
  • urine osmolality is much lower than in controls   (MGI Ref ID J:103187)
  • ability to concentrate urine when deprived of water is severely impaired   (MGI Ref ID J:103187)
• increased blood uric acid level
  • develop hyperuricemia, with 10-fold higher levels of serum uric acid levels   (MGI Ref ID J:16490)
• increased urine uric acid level
  • develop hyperuricosuria (10x more urinary uric acid than normal)   (MGI Ref ID J:16490)
  • uric acid/creatine molar ratio in the urine is 30- to 100-fold higher   (MGI Ref ID J:103187)
• uremia
  • exhibit moderate azotemia, however do not observe signs of renal insufficiency   (MGI Ref ID J:103187)
• • increased blood urea nitrogen level
    • serum urea nitrogen concentrations at 50-60 days and 9-13 months of age are 1.5- and 2-fold, respectively, higher than in controls   (MGI Ref ID J:103187)
• renal/urinary system phenotype
• abnormal kidney morphology   (MGI Ref ID J:103187)
  • exhibit progressive destruction of the kidneys as early as 6 days after birth, showing small cortical cysts and white-yellow deposits (urate crystals) which persist until P14 and then gradually resolve   (MGI Ref ID J:16490)
  • as disease progresses, affected kidneys become smaller, discolored (pale yellow) and soft   (MGI Ref ID J:16490)
• • abnormal nephron morphology
    • glomeruli are associated with foci of tubular atrophy and collapse of the nephron   (MGI Ref ID J:16490)
  • • abnormal renal glomerulus morphology
      • kidneys exhibit tubular atrophy with apparent crowding of glomeruli   (MGI Ref ID J:103187)
    • • renal glomerulus atrophy   (MGI Ref ID J:16490)
    • abnormal renal tubule morphology
      • tubular degeneration and regeneration with dilation of tubules are seen at P8   (MGI Ref ID J:16490)
      • exhibit mechanical blockage of renal tubules by urate crystal deposition within tubular lumens   (MGI Ref ID J:16490)
    • • dilated renal tubules
        • dilation of tubules at P8   (MGI Ref ID J:16490)
      • renal tubule atrophy
        • kidneys exhibit tubular atrophy   (MGI Ref ID J:103187)
    • increased glomerular capsule space
      • dilation of Bowman's spaces   (MGI Ref ID J:16490)
    • renal cast
      • exhibit mechanical blockage of renal tubules by urate crystal deposition within tubular lumens   (MGI Ref ID J:16490)
  • dilated kidney collecting duct
    • in both the cortex and medulla, collecting ducts are markedly dilated   (MGI Ref ID J:103187)
  • hydronephrosis
    • as obstructive disease progresses, hydronephrotic lesions appear and result in hydronephrosis at 5 weeks   (MGI Ref ID J:16490)
    • exhibit scarred, irregularly shaped, hydronephrotic kidneys   (MGI Ref ID J:103187)
  • kidney cysts
    • the surface of the kidney becomes irregular with obvious pits and scars and multiple cysts   (MGI Ref ID J:16490)
  • • kidney cortex cysts
      • cortical cysts start as dilations within the collecting tubules and extend from the papilla to the corticomedullary junction   (MGI Ref ID J:16490)
  • pale kidney
    • as disease progresses, affected kidneys become discolored (pale yellow)   (MGI Ref ID J:16490)
  • renal fibrosis
    • kidneys exhibit cortical foci of fibrosis   (MGI Ref ID J:103187)
  • small kidney
    • as disease progresses, affected kidneys become smaller   (MGI Ref ID J:16490)
  • urolithiasis
    • bladders of some adults contain uric acid stones   (MGI Ref ID J:103187)
• abnormal urinary bladder morphology
  • bladders of some adults are dilated and contain uric acid stones   (MGI Ref ID J:103187)
• • distended urinary bladder
    • in some adults   (MGI Ref ID J:103187)
• abnormal urine color
  • mutants as young as 10 to 12 days of age produce copious pale urine   (MGI Ref ID J:103187)
• crystalluria
  • crystals appear rapidly as urine cools   (MGI Ref ID J:103187)
• decreased urine osmolality
  • urine osmolality is much lower than in controls   (MGI Ref ID J:103187)
  • ability to concentrate urine when deprived of water is severely impaired   (MGI Ref ID J:103187)
• increased urine uric acid level
  • develop hyperuricosuria (10x more urinary uric acid than normal)   (MGI Ref ID J:16490)
  • uric acid/creatine molar ratio in the urine is 30- to 100-fold higher   (MGI Ref ID J:103187)
• polyuria
  • exhibit about 6-fold more urine output   (MGI Ref ID J:103187)
• immune system phenotype
• chronic inflammation
  • chronic inflammation, characterized by infiltration of plasma cells, lymphocytes, and macrophages, occurs within the interstitium of the kidney   (MGI Ref ID J:16490)
• behavior/neurological phenotype
• polydipsia
  • ingest about 5-fold more water   (MGI Ref ID J:103187)

View Research Applications

Research Applications

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

Uox^tm1Bay related

Metabolism Research
Hyperuricemia
      gout

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		Uoxtm1Bay
Allele Name		targeted mutation 1, Baylor College of Medicine
Allele Type		Targeted (knock-out)
Mutation Made By		Allan Bradley,   Baylor College of Medicine
Strain of Origin		129S7/SvEvBrd-Hprt<+>
ES Cell Line Name		AB1
ES Cell Line Strain		129S7/SvEvBrd-Hprt<+>
Gene Symbol and Name		Uox, urate oxidase
Chromosome		3
Gene Common Name(s)		AI663847; UOX-2; UOXP; URICASE; Uri; Uri2; expressed sequence AI663847;
General Note		Phenotypic Similarity to Human Syndrome: Hyperuricemic Nephropathy (J:16490)
Molecular Note		The insertion of a neomycin cassette into exon 3 disrupted the open reading frame at codon 107. Western blot analysis revealed an absence of encoded protein in liver extracts from homozygous mutant mice. Spectrographic analysis showing a lack of urate oxidase activity in liver extracts, confirmed functional ablation in homozygous mutant mice. [MGI Ref ID J:16490]

Genotyping

Genotyping Information

Genotyping Protocols

Uox^tm1Bay, Standard PCR

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Wu X; Wakamiya M; Vaishnav S; Geske R; Montgomery C Jr; Jones P; Bradley A; Caskey CT. 1994. Hyperuricemia and urate nephropathy in urate oxidase-deficient mice. Proc Natl Acad Sci U S A 91(2):742-6. [PubMed: 8290593]  [MGI Ref ID J:16490]

Additional References

Uox^tm1Bay related

Kelly SJ; Delnomdedieu M; Oliverio MI; Williams LD; Saifer MG; Sherman MR; Coffman TM; Johnson GA; Hershfield MS. 2001. Diabetes insipidus in uricase-deficient mice: a model for evaluating therapy with poly(ethylene glycol)-modified uricase. J Am Soc Nephrol 12(5):1001-9. [PubMed: 11316859]  [MGI Ref ID J:103187]

Kunst CB; Messer L; Gordon J; Haines J; Patterson D. 2000. Genetic mapping of a mouse modifier gene that can prevent ALS onset Genomics 70(2):181-9. [PubMed: 11112346]  [MGI Ref ID J:66226]

Health & husbandry

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.

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, RG10/RG30.

Colony Maintenance

Breeding & Husbandry	When held in a live colony, this strain is maintained by homozygous sibling matings. The survival rate of homozygous mice can be improved with the administration of an Allopurinol therapy protocol.
Diet Information	LabDiet® 5K52/5K67

Purchasing information

Pricing, Supply Level & Notes, Controls

General Supply Notes

• This strain is included in the Induced Mutant Resource Colony collection.
• Genomic DNA is available for this strain from the Mouse DNA Resource.

Control Information

	Control
	101045 B6129SF2/J	(approximate)
Considerations for Choosing Controls
Control Pricing Information for Genetically Engineered Mutant Strains.

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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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