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Nphp3pcy
Spontaneous Allele Detail
Nomenclature
Symbol: Nphp3pcy
Name: nephronophthisis 3 (adolescent); polycystic kidney disease
MGI ID: MGI:1856987
Synonyms: pcy
Gene: Nphp3  Location: Chr9:104002654-104153483 bp, + strand  Genetic Position: Chr9, 56.11 cM
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
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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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:  3 strains or lines available
Notes
Mice Homozygous for This Mutations Display Phenotypic Similarity to Human Syndrome: Autosomal Dominant Polycystic Kidney Disease (J:11399, J:8302)

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:  18 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
12/09/2014
MGI 5.20
The Jackson Laboratory