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Phenotypes Associated with This Genotype
Genotype
MGI:2174902
Allelic
Composition
Alpltm1Sor/Alpltm1Sor
Genetic
Background
either: (involves: 129S7/SvEvBrd-Alpltm1Sor) or (involves: 129S7/SvEvBrd * C57BL/6)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alpltm1Sor mutation (3 available); any Alpl mutation (334 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• in mice rescued by pyridoxal supplementation to repair PLP defect, exhibit defective tooth and enamel formation

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory