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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Slc19a2tm1Gelb
targeted mutation 1, Bruce D Gelb
MGI:2429761
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Slc19a2tm1Gelb/Slc19a2tm1Gelb involves: 129X1/SvJ MGI:3033364


Genotype
MGI:3033364
hm1
Allelic
Composition
Slc19a2tm1Gelb/Slc19a2tm1Gelb
Genetic
Background
involves: 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc19a2tm1Gelb mutation (1 available); any Slc19a2 mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• life span is normal on a normal diet
• death occurs after 3-4 weeks on a thiamin deficient diet

behavior/neurological
• after 4-5 weeks on a normal diet
• after about 17 days on a thiamin deficient diet

reproductive system
• half normal weight
• many apoptotic cells in the tubules
• completely disrupted
• no sperm in the epididymis at 12 weeks of age
• no metaphase I or metaphase II germ cells seen
• severely reduced number of mid pachytene spermatocytes
• on a thiamin deficient diet, spermatocyte loss occurred at an even earlier stage
• on any diet
• male fertility was totally restored by a minimum of 20 days on a high thiamin diet

hearing/vestibular/ear
• normal auditory-evoked brainstem response on a normal diet
• hearing loss on a thiamin deficient diet
• recovery from hearing loss after restoration of thiamin to the diet in 2 out of 3 mice

hematopoietic system
• dysplastic hematopoiesis and reversed myeloid to erythroid ratio
• dyssynchrony of nuclear and cytoplasmic maturation
• increase in early erythroid precursors and oversized cells at all stages
• larger cells
• increased lobulation of megakaryocyte nuclei

homeostasis/metabolism
• impaired insulin secretion with thiamin deficiency
• after 17 days without dietary thiamin, glucose intolerant as determined in a glucose tolerance test
• blood glucose still elevated 120 min into test
• glucose intolerance is resolved 6 weeks after reintroduction of thiamin to diet
• prolonged hypoglycemic response in an insulin tolerance

immune system
• larger cells
• increased lobulation of megakaryocyte nuclei

endocrine/exocrine glands
• half normal weight
• many apoptotic cells in the tubules

digestive/alimentary system
N
• thiamin uptake is normal

Mouse Models of Human Disease
OMIM ID Ref(s)
Thiamine-Responsive Megaloblastic Anemia Syndrome; TRMA 249270 J:79974





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last database update
08/23/2016
MGI 6.05
The Jackson Laboratory