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Npr3stri
Chemically induced Allele Detail
Summary
Symbol: Npr3stri
Name: natriuretic peptide receptor 3; strigosus
MGI ID: MGI:1857836
Synonyms: stri
Gene: Npr3  Location: Chr15:11839982-11907287 bp, - strand  Genetic Position: Chr15, 5.83 cM
Alliance: Npr3stri page
Forepaw skeletal staining images.

Show the 4 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  Outbred
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsA C-to-A transversion mutation at coding nucleotide 502 (c.502C>A) leads to a histidine to asparagine substitution (p.H168N) in a highly conserved region of the protein. Experiments in cultured cells indicate that the mutant protein is retained in the endoplasmic reticulum. (J:57460, J:243806)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 15 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 Npr3 Mutation:  46 strains or lines available
Notes
Genbank: AF131864
References
Original:  J:57460 Jaubert J, et al., Three new allelic mouse mutations that cause skeletal overgrowth involve the natriuretic peptide receptor C gene (Npr3). Proc Natl Acad Sci U S A. 1999 Aug 31;96(18):10278-83
All:  2 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
03/19/2024
MGI 6.23
The Jackson Laboratory