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Phenotypes Associated with This Genotype
Genotype
MGI:6162647
Allelic
Composition
Slc19a3tm1.1Nwak/Slc19a3tm1.1Nwak
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc19a3tm1.1Nwak mutation (0 available); any Slc19a3 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice fed a thiamine-restricted diet (0.60 mg thiamine/100 g food) die within 30 days of starting the diet
• mice fed a thiamine-restricted diet with an even lower percentage of thiamine (0.27 mg thiamine/100 g food) die within 18 days
• however, mice fed a conventional diet containing 1.71 mg thiamine/100 g of food survive for over 6 months without any disease phenotype
• mice that are returned to a conventional diet after 14 days on a thiamine-restricted diet show no disease phenotypes

nervous system
• astrocyte activation is increased in the bilateral thalamic area of mice fed with a thiamine-restricted diet for 14 days
• after 14 days of a thiamine-restricted diet, the numbers of NeuN+ neurons in the submedial nucleus of the thalamus and the dorsal area of the thalamus are decreased to approximately 30%
• after 14 days of an even lower thiamine-restricted diet, the numbers of NeuN+ neurons are hardly detected in the thalamic area, including the submedial nucleus of the thalamus and ventral anterior-lateral complex of the thalamus

behavior/neurological
• mice fed a thiamine-restricted diet exhibit immobility
• mice fed a thiamine-restricted diet exhibit paralysis

homeostasis/metabolism
• thiamine levels in the blood of mice fed a conventional diet are deceased at 7 weeks of age
• thiamine levels in the blood of mice fed a thiamine-restricted diet are decreased
• thiamine concentration in the brain of mice fed a conventional diet is deceased
• thiamine concentration in the brain decreases steadily in mice fed a thiamine-restricted diet before mice present disease phenotypes

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
biotin-responsive basal ganglia disease DOID:0050659 OMIM:607483
J:246593


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
10/08/2019
MGI 6.14
The Jackson Laboratory