Mouse Genome Informatics
hm
    Alpltm1Sor/Alpltm1Sor
either: (involves: 129S7/SvEvBrd-Alpltm1Sor) or (involves: 129S7/SvEvBrd * C57BL/6)
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• attributed to development of seizures at 2 weeks of age

behavior/neurological
• develop at 2 weeks of age

craniofacial
• in mice rescued by pyridoxal supplementation to repair PLP defect, exhibit defective tooth and enamel formation

growth/size/body
• in mice rescued by pyridoxal supplementation to repair PLP defect, exhibit defective tooth and enamel formation
• size ranged from 50 - 100% of heterozygous or wild-type littermates

homeostasis/metabolism
• elevated serum concentration of pyridoxal 5' phosphate (PLP), results in decreased GABA concentrations in the brain
• elevated serum concentration of phosphoethanolamine (PEA)

nervous system
• develop at 2 weeks of age

Mouse Models of Human Disease
OMIM IDRef(s)
Hypophosphatasia, Adult 146300 J:28394
Hypophosphatasia, Childhood 241510 J:28394
Hypophosphatasia, Infantile 241500 J:28394