RGD Reference Report - Mutant Enpp1asj mice as a model for generalized arterial calcification of infancy. - Rat Genome Database

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Mutant Enpp1asj mice as a model for generalized arterial calcification of infancy.

Authors: Li, Qiaoli  Guo, Haitao  Chou, David W  Berndt, Annerose  Sundberg, John P  Uitto, Jouni 
Citation: Li Q, etal., Dis Model Mech. 2013 Sep;6(5):1227-35. doi: 10.1242/dmm.012765. Epub 2013 Jun 20.
RGD ID: 13204734
Pubmed: PMID:23798568   (View Abstract at PubMed)
PMCID: PMC3759342   (View Article at PubMed Central)
DOI: DOI:10.1242/dmm.012765   (Journal Full-text)

Generalized arterial calcification of infancy (GACI), an autosomal recessive disorder, is characterized by early mineralization of blood vessels, often diagnosed by prenatal ultrasound and usually resulting in demise during the first year of life. It is caused in most cases by mutations in the ENPP1 gene, encoding an enzyme that hydrolyzes ATP to AMP and inorganic pyrophosphate, the latter being a powerful anti-mineralization factor. Recently, a novel mouse phenotype was recognized as a result of ENU mutagenesis - those mice developed stiffening of the joints, hence the mutant mouse was named 'ages with stiffened joints' (asj). These mice harbor a missense mutation, p.V246D, in the Enpp1 gene. Here we demonstrate that the mutant ENPP1 protein is largely absent in the liver of asj mice, and the lack of enzymatic activity results in reduced inorganic pyrophosphate (PPi) levels in the plasma, accompanied by extensive mineralization of a number of tissues, including arterial blood vessels. The progress of mineralization is highly dependent on the mineral composition of the diet, with significant shortening of the lifespan on a diet enriched in phosphorus and low in magnesium. These results suggest that the asj mouse can serve as an animal model for GACI.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
arterial calcification of infancy  ISOEnpp1 (Mus musculus)13204734; 13204734DNA:missense mutation:cds:p.V246D (mouse)RGD 
arterial calcification of infancy  IMP 13204734DNA:missense mutation:cds:p.V246D (mouse)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Enpp1  (ectonucleotide pyrophosphatase/phosphodiesterase 1)

Genes (Mus musculus)
Enpp1  (ectonucleotide pyrophosphatase/phosphodiesterase 1)

Genes (Homo sapiens)
ENPP1  (ectonucleotide pyrophosphatase/phosphodiesterase 1)


Additional Information