Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol: Nppclbab Name: natriuretic peptide type C; long bone abnormality MGI ID: MGI:2388899 Synonyms: lbab Gene: Nppc  Location: Chr1:86594015-86598295 bp, - strand  Genetic Position: Chr1, 43.98 cM Alliance: Nppclbab page

Nppclbab/Nppclbab(left) with littermate Nppclbab/+ (right) Show the 4 phenotype image(s) involving this allele.

Strain of Origin:

PL/J

Allele Type:    Spontaneous Mutation:    Single point mutation   Mutation details: lbab is a spontaneous mutation identified at The Jackson Laboratory. A C-to-G transversion mutation in exon 2 results in the substitution of arginine with glycine at position 117 (p.R117G) in a conserved domain of the encoded protein. (J:122924) Inheritance:    Recessive

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

11 anatomical structure(s)

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 Nppc Mutation:	12 strains or lines available

Original:	J:79175 Ward-Bailey PF, et al., Long bone abnormality (lbab): a new spontaneous mutation causing small size and skeletal abnormalities on Chromosome 1 in the mouse. Mouse Mutant Resources Web Site, The Jackson Laboratory, Bar Harbor, Maine. MGI Direct Data Submission. 2002;
All:	9 reference(s)