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Related Experiment Videos

Mouse paracentric inversion In(3)55Rk mutates the urate oxidase gene.

S A Cook1, E C Akeson, C Calvano

  • 1The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA. sac@jax.org

Cytogenetics and Cell Genetics
|July 28, 2001
PubMed
Summary
This summary is machine-generated.

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A radiation-induced paracentric inversion in mouse Chromosome 3 (In(3)55Rk) affects uricase (Uox) gene function, leading to nephropathy. This mutation, uox(In), is a putative null, impacting urate metabolism.

Area of Science:

  • Genetics
  • Molecular Biology
  • Nephrology

Background:

  • Paracentric inversions can disrupt gene function and lead to phenotypic consequences.
  • Uricase (Uox) deficiency in mice results in nephropathy.
  • Characterizing radiation-induced mutations is crucial for understanding genetic alterations.

Purpose of the Study:

  • To characterize the genetic and molecular basis of the paracentric inversion In(3)55Rk on mouse Chromosome 3.
  • To investigate the impact of this inversion on the urate oxidase (Uox) gene and its associated phenotype.
  • To determine if the induced mutation is a null mutation.

Main Methods:

  • Induction of paracentric inversion using cesium irradiation.
  • Genetic crosses and linkage analysis to map breakpoints.

Related Experiment Videos

  • Giemsa banding for cytogenetic analysis.
  • Southern blot and cDNA analysis to assess Uox gene integrity.
  • Fluorescence in situ hybridization (FISH) to analyze chromosomal rearrangements.
  • Clinical, histopathological, and Northern blot analyses.

    • Main Results:

    • The paracentric inversion In(3)55Rk was mapped to mouse Chromosome 3, with breakpoints in bands 3A2 and 3H3.
    • Homozygous inversion mice exhibited nephropathy linked to uricase deficiency.
    • Southern blot revealed RFLPs in the mutant Uox gene, and cDNA analysis showed a truncation.
    • FISH analysis demonstrated a 5' segment of the Uox allele transposed from the distal to the proximal breakpoint.
    • Clinical and molecular data suggest the mutation, uox(In), is a putative null.

    Conclusions:

    • The paracentric inversion In(3)55Rk disrupts the mouse Uox gene, causing a putative null mutation.
    • This radiation-induced mutation leads to nephropathy, highlighting the link between Uox deficiency and kidney disease.
    • The study refines the breakpoint locations and provides detailed molecular characterization of the Uox mutation.