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Human Disease and Mouse Model Detail
Human Disease Diamond-Blackfan Anemia 1; DBA1
OMIM ID: 105650
Human Phenotype Ontology associations
Synonyms Aase Syndrome; Aase-Smith Syndrome II; Anemia, Congenital Erythroid Hypoplastic; Anemia, Congenital Hypoplastic, of Blackfan and Diamond; Aregenerative Anemia, Chronic Congenital; Blackfan-Diamond Syndrome; BDS; Dba; Diamond-Blackfan Anemia; Erythrogenesis Imperfecta; Red Cell Aplasia, Pure, Hereditary
View all models View ALL (5) mouse models for this human disease.
Genes and
mouse models
Mutations in human and/or mouse homologs are associated with this disease

      *Disease is associated/modeled with this Gene or a homolog. More...
      Human Homologs Mouse Homologs Mouse Models Homology Source
     RPS19* Rps19 View 1 model HomoloGene and HGNC
Transgenes and
other genome features
Transgenes and other genome features developed in mice to model this disease.

     Transgenes and Other Genome Features Mouse Models
  Tg(CAG-RPS19*R62W)#Dmb View 1 model
References Disease References using Mouse Models (4)

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
MGI 6.07
The Jackson Laboratory