Cys1^cpk
Spontaneous Allele Detail

Summary

• Symbol: Cys1^cpk
• Name: cystin 1; congenital polycystic kidneys
• MGI ID: MGI:1856831
• Synonyms: ck, cpk
• Gene: Cys1 Location: Chr12:24715832-24731794 bp, - strand Genetic Position: Chr12, 8.49 cM
• Alliance: Cys1^cpk page

Mutation origin

• Strain of Origin: B6.Cg-Bloc1s6^pa

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: The underlying mutation responsible for the phenotype in the cpk mouse consists of a tandem deletion of 12 bp and 19 bp. The result is a frame-shift within exon 1 that truncates the protein. Northern analysis from kidney and liver revealed the presence of transcript in homozygous mutant animals at reduced levels compared to wild-type. (J:74701)
• Inheritance: Recessive

Disease models

Expression

In Mice Carrying this Mutation:	6 assay results
In Structures Affected by this Mutation:	17 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 Cys1 Mutation: 6 strains or lines available

References

• Original: J:31533 Russell ES, et al., Cystic kidneys, ck. Mouse News Lett. 1977;56:40
• All: 58 reference(s)