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Npr3lgj
Spontaneous Allele Detail
Summary
Symbol: Npr3lgj
Name: natriuretic peptide receptor 3; longjohn
MGI ID: MGI:1857837
Synonyms: lgj
Gene: Npr3  Location: Chr15:11839982-11907287 bp, - strand  Genetic Position: Chr15, 5.83 cM
Alliance: Npr3lgj page
Wild-type and Npr3lgj-2J/Npr3lgj-2J, Npr3lgj/Npr3lgj and Npr3stri/Npr3stri mutants showing kyphosis.

Show the 2 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  BALB/cJ
Mutation
description
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
 
Mutation detailsAn in-frame 36 bp deletion of coding nucleotides 196-231 (c.196_231del) deletes 12 amino acids in the extracellular domain of the encoded peptide (p.(Arg66_Ser77del)) that are highly conserved among species. (J:57460)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 7 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:  50 strains or lines available
Notes
Genbank: AF131862
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
12/10/2024
MGI 6.24
The Jackson Laboratory