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| Nomenclature |
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Symbol:
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Nphp3pcy
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Name:
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nephronophthisis 3 (adolescent);
polycystic kidney disease
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MGI ID: |
MGI:1856987 |
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Synonyms: |
pcy |
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Gene:
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Nphp3
Location:
Chr9:104002544-104043730 bp, + strand
Genetic Position: Chr9,
56.11 cM
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Mutation
origin |
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Nucleotide substitutions |
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Sequencing showed an isoleucine to serine substitution at codon 614. (J:91453)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Nphp3 Mutation:
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3 strains or lines available |
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Notes |
Mice Homozygous for This Mutations Display Phenotypic Similarity to Human Syndrome: Autosomal Dominant Polycystic Kidney Disease (J:11399, J:8302)
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| References |
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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
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All: |
16 reference(s)
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Analysis Tools
