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Nphp4nmf192
Chemically induced Allele Detail
Summary
Symbol: Nphp4nmf192
Name: nephronophthisis 4 (juvenile) homolog (human); neuroscience mutagenesis facility, 192
MGI ID: MGI:3032515
Gene: Nphp4  Location: Chr4:152561163-152647640 bp, + strand  Genetic Position: Chr4, 83.14 cM, cytoband E2
Alliance: Nphp4nmf192 page
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsENU induced a T to A transversion that results in the amino acid substitution of a stop codon for leucine at position 104 (L104X). (J:167232)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 8 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 Nphp4 Mutation:  66 strains or lines available
References
Original:  J:87349 JAX Neuroscience Mutagenesis Facility, Heritable mouse mutants from JAX NMF ENU Mutagenesis Program. MGI Direct Data Submission. 2004-7;
All:  6 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
04/16/2024
MGI 6.23
The Jackson Laboratory