Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6.

doi:10.1038/ng0995-45

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Article

Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6.

Nature genetics - 1 Sept 1995

Waymire K G, Mahuren J D, Jaje J M, Guilarte T R, Coburn S P, MacGregor G R

Abstract excerpt

In humans, deficiency of the tissue non-specific alkaline phosphatase (TNAP) gene is associated with defective skeletal mineralization. In contrast, mice lacking TNAP generated by homologous recombination using embryonic stem (ES) cells have normal skeletal development. However, at approximately two weeks after birth, homozygous mutant mice develop seizures which are subsequently fatal. Defective metabolism of...

Topics

Alkaline Phosphatase
Animals
Brain Chemistry
Calcification, Physiologic
Disease Models, Animal
Epilepsy
Genes, Lethal
Humans
Hypophosphatasia
Mice
Mice, Neurologic Mutants

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Paralysis

Phenotype

Pyridoxal Phosphate

Species Specificity

Tooth Abnormalities

Vitamin B 6 Deficiency

gamma-Aminobutyric Acid

Source

Open in PubMed

Identifiers

PMID: 7550313
DOI: 10.1038/ng0995-45

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7550313-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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