Description: This knock-in mouse model has an amino acid substitution at position T3041V of the G-protein coupled receptor proteolytic site (GPS) of polycystin 1, disrupting normal cleavage. Heterozygous mice are phenotypically normal. Homozygotes are phenotypically normal at birth but develop cysts and die within 2-3 weeks.
Contact: info@pkd-rrc.org
Description: This knock-in mutant mouse model has a Neomycin targeting cassette disrupting splicing of exon 45 and a deletion of Leu 4122 in PKD1. The splice defect results in premature truncation of the mutant protein. Homozygous mice are embryonically lethal. Cre-mediated excision of the targeting cassette produces the PKD1 Delta L allele.
Contact: info@pkd-rrc.org
Description: This knock-out mouse model has a deletion of PKD1 exons 2 through 4. Heterozygous mice are phenotypically normal. Homozygous mice are embryonically lethal at mid-gestation.
Contact: info@pkd-rrc.org
Description: This conditional PKD1 floxed mouse model harbors LoxP sites flanking exons 2 through 4. Homozygous mice are phenotypically normal. When bred with a Cre recombinase mouse line, offspring lack expression of PKD1 in the Cre targeted tissue.
Contact: info@pkd-rrc.org
Description: This knock-in mutant mouse model mimics a patient-derived mutation with a deletion of Leucine at position 4122. Homozygous mice are embryonically lethal.
Contact: info@pkd-rrc.org
Description: This knock-in mouse model produces a fully functional polycystin 1 protein with a C-terminal triple HA tag. Homozygous mice are phenotypically normal.
Contact: info@pkd-rrc.org
