Hypophosphatasia Model
Hypophosphatasia (HPP) is a rare, inherited, and systemic disorder, marked by defective skeletal mineralization and low activity of tissue nonspecific serum alkaline phosphatase (TNSALP). It is triggered by autosomal recessive or dominant-negative mutations in the ALPL gene, which codes for TNSALP. The ectoenzyme's natural substrates, such as inorganic pyrophosphate (PPi), a mineralization inhibitor, and pyridoxal 5'-phosphate (PLP), a co-factor form of vitamin B6, accumulate extracellularly. HPP presents a wide range of phenotypes, including abnormal bone mineralization, disruptions in calcium and phosphate metabolism, pain, recurrent fractures, short stature, respiratory problems, developmental delays, tooth loss, seizures, and premature death.
● Genetically Engineered HPP Mouse Model
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Strain No.
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Strain Name | Strain Type | Description |
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| T014130 | Alpl-KO | Knockout | Homozygous Alpl-KO mice are neonatal lethal. Heterozygous mice displayed decreased serum ALP activity. Diet supplementary improved the survival of Alpl-KO homozygous pups to 3-4 weeks old. The body weight, serum phosphate and bone density of vitamin B6 supplemented Alpl-KO homozygous are decreased compared to wildtype and heterozygous littermates, while the serum ALP activity is about 1/1000 of wildtype, indicating severe hypophosphatasia-like phenotype |