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Nphp3pol
Chemically induced Allele Detail
Summary
Symbol: Nphp3pol
Name: nephronophthisis 3 (adolescent); polly
MGI ID: MGI:3847130
Gene: Nphp3  Location: Chr9:103879743-103921010 bp, + strand  Genetic Position: Chr9, 56.11 cM
Alliance: Nphp3pol page
Mutation
origin
Strain of Origin:  C57BL/6JSfdAnu
Project Collection: APF ENU Mutagenesis
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsThis mutation comprises a T to A transversion at nucleotide position 1319, resulting in replacement of valine by glutamic acid. (J:104190) Additional incidental mutations were detected in sequencing for the causative mutation, Nphp3pol, and may be present in stocks carrying this mutation.
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 3 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Nphp3 Mutation:  77 strains or lines available
References
Original:  J:104190 The Australian Phenomics Facility at The Australian National University, Heritable mouse mutants from the ENU mutagenesis program at the Australian Phenomics Facility at The Australian National University. MGI Direct Data Submission. 2006-2014;
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory