cpk Heterozygous

Description: This knock-out mouse model has a spontaneous tandem deletion of 12 bp and 19 bp in the cpk gene that results in a frameshift mutation within exon 1, truncating cystin, the protein encoded by the cpk gene. Heterozygous mice are phenotypically normal. Homozygous mice develop rapidly progressive renal cystic disease that closely resembles human autosomal recessive PKD (ARPKD) and die by 3-4 weeks of age. C57Bl6 lack the intrahepatic biliary duct dilatation observed in different backgrounds.
Contact: pydnam@uab.edu
Note: Additional combinations of alleles are available upon request


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