Phenotypes associated with this allele

• Allele Symbol: Slc19a3^tm1Said
• Allele Name: targeted mutation 1, Hamid M Said
• Allele ID: MGI:4948864
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc19a3^tm1Said/Slc19a3^tm1Said	involves: C57BL/6	MGI:4948868
hm2	Slc19a3^tm1Said/Slc19a3^tm1Said	involves: C57BL/6J	MGI:6162677

Genotype
MGI:4948868

hm1

• Allelic Composition: Slc19a3^tm1Said/Slc19a3^tm1Said
• Genetic Background: involves: C57BL/6

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

mortality/aging

premature death ( J:170952 )

• mice die within 1 year of age

liver/biliary system

chronic liver inflammation ( J:170952 )

abnormal liver parenchyma morphology ( J:170952 )

• 4 of 5 mice exhibit hepatic parenchyma injury with necrosis and chronic inflammation in zone 2 (midzonal) and focally extending periportally into zone 1 unlike wild-type mice

hepatic necrosis ( J:170952 )

renal/urinary system

kidney inflammation ( J:170952 )

• chronic interstitial

abnormal proximal convoluted tubule morphology ( J:170952 )

• mice exhibit degeneration of the proximal convoluted tubules and arteriolosclerosis compared with wild-type mice

nephrosclerosis ( J:170952 )

homeostasis/metabolism

abnormal vitamin absorption ( J:170952 )

• mice exhibit decreased thiamin uptake compared with wild-type mice

abnormal thiamin level ( J:170952 )

• thiamin serum levels are decreased compared to in wild-type mice

digestive/alimentary system

abnormal vitamin absorption ( J:170952 )

• mice exhibit decreased thiamin uptake compared with wild-type mice

behavior/neurological

lethargy ( J:170952 )

• 2 to 3 months before death

growth/size/body

cachexia ( J:170952 )

• 2 to 3 months before death

immune system

chronic liver inflammation ( J:170952 )

kidney inflammation ( J:170952 )

• chronic interstitial

Genotype
MGI:6162677

hm2

• Allelic Composition: Slc19a3^tm1Said/Slc19a3^tm1Said
• Genetic Background: involves: C57BL/6J

mortality/aging

premature death ( J:246593 )

• mice fed a thiamine-restricted diet (0.60 mg thiamine/100 g food) die within 12 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 14 days

• 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 2 or 3 days on a thiamine-restricted diet, die within the next 24 days

• 4 of 7 mice that are returned to a conventional diet after 1 day on a thiamine-restricted diet recover and survive

• most mice that are returned to a high-thiamine diet (8.5 mg thiamine/100 g food) after 2, 3, and 5 days of a thiamine-restricted diet are rescued and survive

nervous system

astrocytosis ( J:246593 )

• astrocyte activation is increased in the bilateral thalamic area of mice fed with a thiamine-restricted diet for 12 days

decreased neuron number ( J:246593 )

• after 5 days of a thiamine-restricted diet, the number of NeuN+ neurons in the submedial nucleus of the thalamus and ventral anterior-lateral complex of the thalamus is decreased to approximately 50%

• after 12 days of a thiamine-restricted diet, the numbers of NeuN+ neurons are decreased over a wide area of the thalamus, including the submedial nucleus of the thalamus

neurodegeneration ( J:246593 )

• the number of degenerating neurons in the submedial nucleus of the thalamus, ventral anterior-lateral complex of the thalamus and cortex is increased in mice fed a thiamine-restricted diet

• the brains of surviving mice on a high-thiamine diet after 2 days of thiamine restriction show a slight decrease in NeuN+ neurons, no significant astrocyte activation in the thalamus or acute neurodegeneration

behavior/neurological

abnormal locomotor behavior ( J:246593 )

• mice fed a thiamine-restricted diet exhibit immobility

paralysis ( J:246593 )

• mice fed a thiamine-restricted diet exhibit paralysis

homeostasis/metabolism

abnormal thiamin level ( J:246593 )

• 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 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