Table 2.

Other mouse models of DBA.

Gene	Molecular approach	Whole animal and cellular phenotype	Implications	Ref(s)
Flvcr	Knockout and conditional allele	Homozygote knockout-early embryonic lethality, impaired erythropoiesis, dysmorphicfacies and limbs; Postnatal deletion-anemia, block in erythropoiesis	Phenocopies many DBA features; role for excess heme in DBA	36
Tcof1	Knockout	Heterozygote-craniofacial hypoplasia, neural crest apoptosis	Phenotypes are mediated by p53	40
Sbds	Knockout	Homozygote-early embryonic lethality; Heterozygote-no phenotype	Gene dosage influences disease penetrance	45
Dkc1	Hypomorphic allele	rRNA modification defects occur early, telomere shortening occurs later	Impaired ribosome function is important for disease initiation, telomere shortening modifies the phenotype	49
Dkc1	Knockin pathogenic mutations	Mutant cells have a growth disadvantage	Growth disadvantage is independent of telomere length	52
Kit	Spontaneous and engineered	White belly spot, macrocytic anemia	Abnormal Kit signaling may contribute to DBA	54, 56
Kitl	Spontaneous and engineered	White belly spot, macrocytic anemia	Abnormal Kit signaling may contribute to DBA	54, 55
Mdm2	Knockin (base pair substitution, C305F)	Mutation impairs mdm2-ribosomal protein binding; perturbations in ribosome biogenesis do not lead to activation of p53	May correct phenotypes in ribosomal protein mutants and DBA patients	34