ArticleThe American journal of pathology2012
A novel animal model for pseudoxanthoma elasticum: the KK/HlJ mouse.
Article in The American journal of pathology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 24 citations in OpenAlex.
- A Fragile Phosphate/Pyrophosphate Balance: From Essential Mineralization to Rare Calcifying Diseases.Current osteoporosis reports · 2025Review
- Soft tissue calcifications in chronic kidney disease-beyond the vasculature.Pflugers Archiv : European journal of physiology · 2025Review
- Anticalcification effects of DS-1211 in pseudoxanthoma elasticum mouse models and the role of tissue-nonspecific alkaline phosphatase in ABCC6-deficient ectopic calcification.Scientific reports · 2022Article
- Research-Relevant Conditions and Pathology of Laboratory Mice, Rats, Gerbils, Guinea Pigs, Hamsters, Naked Mole Rats, and Rabbits.ILAR journal · 2021Review
- Molecular Genetics and Modifier Genes in Pseudoxanthoma Elasticum, a Heritable Multisystem Ectopic Mineralization Disorder.The Journal of investigative dermatology · 2021Review
- ABCC6, Pyrophosphate and Ectopic Calcification: Therapeutic Solutions.International journal of molecular sciences · 2021Review
- Microvasculopathy and soft tissue calcification in mice are governed by fetuin-A, magnesium and pyrophosphate.PloS one · 2020Article
- Quantitative Trait Locus and Integrative Genomics Revealed Candidate Modifier Genes for Ectopic Mineralization in Mouse Models of Pseudoxanthoma Elasticum.The Journal of investigative dermatology · 2019Article
- Trauma-Induced Nanohydroxyapatite Deposition in Skeletal Muscle is Sufficient to Drive Heterotopic Ossification.Calcified tissue international · 2019Article
- Pseudoxanthoma Elasticum as a Paradigm of Heritable Ectopic Mineralization Disorders: Pathomechanisms and Treatment Development.The American journal of pathology · 2019Review
- Insights into Pathomechanisms and Treatment Development in Heritable Ectopic Mineralization Disorders: Summary of the PXE International Biennial Research Symposium-2016.The Journal of investigative dermatology · 2017Review
- Mouse genome-wide association study identifies polymorphisms on chromosomes 4, 11, and 15 for age-related cardiac fibrosis.Mammalian genome : official journal of the International Mammalian Genome Society · 2016Article
- Research Progress in Pseudoxanthoma Elasticum and Related Ectopic Mineralization Disorders.The Journal of investigative dermatology · 2016Review
- Genetic determinants of fibro-osseous lesions in aged inbred mice.Experimental and molecular pathology · 2016Article
- Phenotypic characterization of the KK/HlJ inbred mouse strain.Veterinary pathology · 2014Article
- Juxta-articular joint-capsule mineralization in CD73 deficient mice: similarities to patients with NT5E mutations.Cell cycle (Georgetown, Tex.) · 2014Article
- Mouse models for pseudoxanthoma elasticum: genetic and dietary modulation of the ectopic mineralization phenotypes.PloS one · 2014Article
- The mouse pathology ontology, MPATH; structure and applications.Journal of biomedical semantics · 2013Article
- Mineralization/anti-mineralization networks in the skin and vascular connective tissues.The American journal of pathology · 2013Review
- The molecular and physiological roles of ABCC6: more than meets the eye.Frontiers in genetics · 2012Article
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Authors and funding
5 authors at 4 institutions in 1 country.
Funding
Abstract
Pseudoxanthoma elasticum is a multisystem ectopic mineralization disorder caused by mutations in the ABCC6 gene. A mouse model with targeted ablation of the corresponding gene (Abcc6(tm1JfK)) develops ectopic mineralization on the dermal sheath of vibrissae as biomarker of the progressive mineralization disorder. Survey of 31 mouse strains in a longitudinal aging study has identified three mouse strains with similar ectopic mineralization of the vibrissae, particularly the KK/HlJ strain. We report here that this mouse strain depicts, in addition to ectopic mineralization of the dermal sheath of vibrissae, mineral deposits in a number of internal organs. Energy dispersive X-ray analysis and topographic mapping found the presence of calcium and phosphate as the principal ions in the mineral deposits, similar to that in Abcc6(tm1JfK) mice, suggesting the presence of calcium hydroxyapatite. The mineralization was associated with a splice junction mutation at the 3' end of exon 14 of the Abcc6 gene, resulting in a 5-bp deletion from the coding region and causing frame-shift of translation. As a consequence, essentially no Abcc6 protein was detected in the liver of the KK/HlJ mice, similar to that in Abcc6(tm1JfK) mice. Collectively, our studies found that the KK/HlJ mouse strain is characterized by ectopic mineralization due to a mutation in the Abcc6 gene and therefore provides a novel model system to study pseudoxanthoma elasticum.
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