A new mouse model for autosomal recessive polycystic kidney disease.
In the course of large-scale mutagenesis studies, we discovered a mutant that provides a new mouse model for human autosomal recessive polycystic kidney disease. Animals homozygous for this mutation, T(2;10)67Gso, present evidence of grossly cystic renal and hepatic tissue at birth and a limited survival time of 3-4 days. The recessively expressed phenotype is associated with inheritance of a reciprocal translocation involving mouse chromosomes 2 and 10. Here we describe the pathology and phenotype of this new mutation. The mapping of the chromosomal breakpoint to the 1.0-cM critical region defined for another mouse autosomal recessive polycystic kidney disease model, juvenile congenital polycystic kidney disease (jcpk), led us to undertake the complementation testing that confirmed T(2;10)67Gso and jcpk are allelic. Because of the strong resemblance between the phenotype associated with these mouse mutations and early childhood polycystic kidney disease, and because of advantages offered by reciprocal translocations for gene mapping and cloning, T(2;10)67Gso should prove a valuable asset for studies concerning this fatal disease.
Chittenden
Laura
L
Biology and Biotechnology Research Program, Lawrence Livermore National Laboratory, L-452, 7000 East Avenue, Livermore, California 94550, USA.
Lu
Xiaochen
X
Cacheiro
Nestor L A
NL
Cain
K T
KT
Generoso
Walderico
W
Bryda
Elizabeth C
EC
Stubbs
Lisa
L
D000818:Animals; D004195:Disease Models, Animal; D005260:Female; D007668:Kidney / Q000378:metabolism / Q000648:ultrastructure; D008297:Male; D051379:Mice; D008809:Mice, Inbred C3H; D008810:Mice, Inbred C57BL; D017044:Polycystic Kidney, Autosomal Recessive / Q000235:genetics* / Q000378:metabolism; D014178:Translocation, Genetic