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Npr2slw
Spontaneous Allele Detail
Nomenclature
Symbol: Npr2slw
Name: natriuretic peptide receptor 2; short-limbed dwarfism
MGI ID: MGI:3774275
Gene: Npr2  Location: Chr4:43631935-43651244 bp, + strand  Genetic Position: Chr4, 23.05 cM
Mutation
origin
Strain of Origin:  DDY
Mutation
description
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
 
Mutation detailsA noncomplementation test with mice carrying the Npr2cn allele demonstrated that this mutation is an allele of Npr2. A 7-base deletion was identified in exon 8. The deletion caused a frameshift and the appearance of a premature termination codon at codon 513. (J:163374)
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: 10 anatomical structures
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 Npr2 Mutation:  43 strains or lines available
References
Original:  J:129973 Sogawa C, et al., Short-limbed dwarfism: slw is a new allele of Npr2 causing chondrodysplasia. J Hered. 2007 Sep-Oct;98(6):575-80
All:  4 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/12/2018
MGI 6.12
The Jackson Laboratory