Phenotypes Associated with This Genotype

Genotype
MGI:2174902

• Allelic Composition: Alpl^tm1Sor/Alpl^tm1Sor
• Genetic Background: either: (involves: 129S7/SvEvBrd-Alpl^tm1Sor) or (involves: 129S7/SvEvBrd * C57BL/6)

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

postnatal lethality, complete penetrance ( J:28394 )

• attributed to development of seizures at 2 weeks of age

behavior/neurological

seizures ( J:28394 )

• develop at 2 weeks of age

craniofacial

abnormal tooth morphology ( J:28394 )

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

growth/size/body

abnormal tooth morphology ( J:28394 )

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

decreased body size ( J:28394 )

• size ranged from 50 - 100% of heterozygous or wild-type littermates

homeostasis/metabolism

abnormal blood homeostasis ( J:28394 )

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

• elevated serum concentration of phosphoethanolamine (PEA)

nervous system

seizures ( J:28394 )

• develop at 2 weeks of age

skeleton

abnormal tooth morphology ( J:28394 )

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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
adult hypophosphatasia		DOID:0110913	OMIM:146300	J:28394
childhood hypophosphatasia		DOID:0110915	OMIM:241510	J:28394
infantile hypophosphatasia		DOID:0110914	OMIM:241500	J:28394