Pkd2^lrm4
Chemically induced Allele Detail

Summary

• Symbol: Pkd2^lrm4
• Name: polycystin 2, transient receptor potential cation channel; left-right mutant 4
• MGI ID: MGI:3640799
• Gene: Pkd2 Location: Chr5:104607316-104653685 bp, + strand Genetic Position: Chr5, 50.68 cM
• Alliance: Pkd2^lrm4 page

Mutation origin

• Strain of Origin: BALB/cAnN

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: This mutation comprises an A-to-G transition at nucleotide position 12 of exon 6, resulting in non-conservative replacement of glutamine by glycine at amino acid position 442 (E442G), a highly-conserved position within the ion channel of the protein. (J:145068, J:170490)
• Inheritance: Recessive

Expression

In Mice Carrying this Mutation:	2 assay results
In Structures Affected by this Mutation:	7 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Pkd2 Mutation: 85 strains or lines available

References

• Original: J:145068 Ermakov A, et al., Mouse mutagenesis identifies novel roles for left-right patterning genes in pulmonary, craniofacial, ocular, and limb development. Dev Dyn. 2009 Feb 22;238(3):581-594
• All: 5 reference(s)