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B6.kd/kd

eagle-i ID

http://eagle-i.itmat.upenn.edu/i/0000013c-da1a-86fa-f162-a2b280000000

Resource Type

  1. Mus musculus

Properties

  1. Related grant number
    RO1-DK55852
  2. Resource Description
    The <i>kd/kd</i> mouse is homozygous for the V117M mutation in PDSS2, the “kidney disease” mutation, which occurred spontaneously in a CBA/CaH colony. These mice spontaneously develop severe and progressive nephritis leading to renal failure, characterized by cellular infiltration, tubular destruction and glomerular sclerosis. The <i>kd</i> allele was transferred to the C57BL/6J (B6) background by mating a recombinant <i>kd</i> haplotype with B6 with selection for closely linked microsatellite markers that were studied in a mapping experiment.
  3. Additional Name
    B6.<i>Pdss2<sup>kd/kd</sup></i>
  4. Additional Name
    B6.CBACaH(CAST)-kd/Upa
  5. Related Disease
    interstitial nephritis
  6. Related Disease
    Parkinson's disease
  7. Related Publication or Documentation
    Parkinson's disease-like neuromuscular defects occur in prenyl diphosphate synthase subunit 2 (Pdss2) mutant mice
  8. Related Publication or Documentation
    Localization of the mouse kidney disease (kd) gene to a YAC/BAC contig on Chromosome 10
  9. Related Publication or Documentation
    Probucol ameliorates renal and metabolic sequelae of primary CoQ deficiency in Pdss2 mutant mice
  10. Related Publication or Documentation
    Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease
  11. Related Publication or Documentation
    The mitochondrial and kidney disease phenotypes of kd/kd mice under germfree conditions
  12. Related Publication or Documentation
    Glomerular and tubular epithelial defects in kd/kd mice lead to progressive renal failure
  13. Related Publication or Documentation
    The kd/kd mouse is a model of collapsing glomerulopathy
  14. Related Publication or Documentation
    Mutant prenyltransferase-like mitochondrial protein (PLMP) and mitochondrial abnormalities in kd/kd mice
  15. Related Publication or Documentation
    Cutting Edge: Multiple autoimmune pathways in kd/kd mice
  16. Parental Strain Name
    C57BL/6J
  17. Genetic Alteration(s)
    Pdss2 missense mutation
  18. Phenotype Findings
    Visceral epithelial abnormalities
  19. Phenotype Findings
    Albuminuria
  20. Phenotype Findings
    Hypoproteinemia
  21. Phenotype Findings
    Nephritis
  22. Phenotype Findings
    Mitochondrial abnormalities in renal epithelial cells
  23. Phenotype Findings
    Abnormal liver mitochondria morphology
  24. Phenotype Findings
    Normal tissue structure
  25. Phenotype Findings
    Reduction of mutant phenotype under germfree conditions
  26. Phenotype Findings
    Reduction of mutant phenotype under caloric restriction
  27. Phenotype Findings
    Collapsing glomerulopathy
  28. Phenotype Findings
    Renal disease prevented
  29. Phenotype Findings
    Gender effect in prevention of renal disease
  30. Phenotype Findings
    Hyperlipidemia
  31. Phenotype Findings
    CoQ level in tissues
  32. Phenotype Findings
    Extra-renal disease
  33. Phenotype Findings
    Impaired motor coordination
  34. Phenotype Findings
    Impaired locomotor activity
  35. Phenotype Findings
    Akinesia
  36. Phenotype Findings
    Decreased mitochondrial skeletal muscle respiratory capacity
  37. Phenotype Findings
    Abnormal substantia nigra morphology
  38. Location
    Gasser Laboratory
 
RDFRDF
 
Provenance Metadata About This Resource Record
  1. workflow state
    Published
  2. contributor
    fcoldren
  3. created
    2013-02-14T14:07:49.431-05:00
  4. creator
    fcoldren
  5. modified
    2013-02-19T09:54:02.968-05:00

Copyright © 2016 by the President and Fellows of Harvard College
The eagle-i Consortium is supported by NIH Grant #5U24RR029825-02 / Copyright 2016