Human Disease and Mouse Model Detail

Human Disease

Term: Thiamine-Responsive Megaloblastic Anemia Syndrome; TRMA
OMIM ID: 249270

Synonyms

Megaloblastic Anemia, Thiamine-Responsive, with Diabetes Mellitus and Sensorineural Deafness; Rogers Syndrome; Thiamine Metabolism Dysfunction Syndrome 1 (megaloblastic Anemia, Diabetes Mellitus, and Deafness Type); THMD1; Thiamine-Responsive Anemia Syndrome; Thiamine-Responsive Myelodysplasia

Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene

Human Gene

Characteristics of this human disease are associated with mutations in...

Slc19a2

SLC19A2

...both mouse and human orthologous genes.

Mouse Models

Genotype				Ref(s)
Allelic Composition		Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Slc19a2^tm1Gelb/Slc19a2^tm1Gelb			involves: 129X1/SvJ	J:79974
No similarity to the expected human disease phenotype was found.²
NOT	Slc19a2^tm1Ejn/Slc19a2^tm1Ejn		involves: 129S4/SvJae * 129S6/SvEvTac	J:101675

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²One or more human genes are associated with this human disease. The mouse genotype may involve mutations to orthologs of one or more of those genes, but the phenotype did not resemble the disease.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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