Nphp3^pcy
Spontaneous Allele Detail

Summary

• Symbol: Nphp3^pcy
• Name: nephronophthisis 3 (adolescent); polycystic kidney disease
• MGI ID: MGI:1856987
• Synonyms: pcy
• Gene: Nphp3 Location: Chr9:103879743-103921010 bp, + strand Genetic Position: Chr9, 56.11 cM
• Alliance: Nphp3^pcy page

Mutation origin

• Strain of Origin: KK

Mutation description

• Allele Type: Spontaneous
• Mutation: Nucleotide substitutions
• Sequencing showed an isoleucine to serine substitution at codon 614. (J:91453)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

9 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Nphp3 Mutation: 77 strains or lines available

References

• Original: J:8302 Takahashi H, et al., A new mouse model of genetically transmitted polycystic kidney disease. J Urol. 1986 Jun;135(6):1280-3
• All: 24 reference(s)