Pkd1^m1Bei
Chemically induced Allele Detail

Summary

• Symbol: Pkd1^m1Bei
• Name: polycystin 1, transient receptor potential channel interacting; mutation 1, David R Beier
• MGI ID: MGI:2152894
• Synonyms: line 172, Pkd1-
• Gene: Pkd1 Location: Chr17:24768808-24815482 bp, + strand Genetic Position: Chr17, 12.4 cM
• Alliance: Pkd1^m1Bei page

Mutation origin

• Strain of Origin: A/J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: This ENU-induced mutation was shown by complementation testing to be an allele of Pkd1. Molecular analysis determined that a T to G transversion mutation at position 9248 results in a methionine to arginine substitution in the first transmemebrane domain of the encoded protein. A similar mutation is found in humans. (J:75360)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

2 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 Pkd1 Mutation: 153 strains or lines available

References

• Original: J:75360 Herron BJ, et al., Efficient generation and mapping of recessive developmental mutations using ENU mutagenesis. Nat Genet. 2002 Feb;30(2):185-9
• All: 12 reference(s)