Human Disease and Mouse Model Detail

Human Disease

Term: Diamond-Blackfan Anemia; DBA
OMIM ID: 105650

Synonyms

Aase-Smith Syndrome II; Anemia, Congenital Erythroid Hypoplastic; Anemia, Congenital Hypoplastic, of Blackfan and Diamond; Aregenerative Anemia, Chronic Congenital; Blackfan-Diamond Syndrome; BDS; Erythrogenesis Imperfecta; Red Cell Aplasia, Pure, Hereditary

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...

Col1a1	COL1A1
Mfsd7b	FLVCR1
Rpsa	RPSA

...the mouse gene.
OMIM data currently do not associate this disease with the orthologous human gene.

Transgenes and
other mutation types

Tg(CAG-RPS19*R62W)#Dmb

Characteristics of this human disease are associated with transgenes and other mutation types in mouse.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human diseases where etiology is unknown or involving genes where ortholog is unknown.¹
Col1a1^{tm1(tetO-RNAi:Rps19)Karl}/Col1a1^{tm1(tetO-RNAi:Rps19)Karl} Gt(ROSA)26Sor^{tm1(rtTAM2)Jae}/Gt(ROSA)26Sor^{tm1(rtTAM2)Jae}		involves: 129S4/SvJae * C57BL/6	J:179085
Col1a1^{tm1(tetO-RNAi:Rps19)Karl}/Col1a1⁺ Gt(ROSA)26Sor^{tm1(rtTAM2)Jae}/Gt(ROSA)26Sor^{tm1(rtTAM2)Jae}		involves: 129S4/SvJae * C57BL/6	J:179085
Col1a1^{tm2(tetO-RNAi:Rps19)Karl}/Col1a1⁺ Gt(ROSA)26Sor^{tm1(rtTAM2)Jae}/Gt(ROSA)26Sor^{tm1(rtTAM2)Jae}		involves: 129S4/SvJae * C57BL/6	J:179085
Col1a1^{tm2(tetO-RNAi:Rps19)Karl}/Col1a1^{tm2(tetO-RNAi:Rps19)Karl} Gt(ROSA)26Sor^{tm1(rtTAM2)Jae}/Gt(ROSA)26Sor^{tm1(rtTAM2)Jae}		involves: 129S4/SvJae * C57BL/6	J:179085
Mfsd7b^tm1.1Jlab/Mfsd7b^tm1.1Jlab		involves: 129S4/SvJae * C57BL/6 * DBA/2	J:132057
Mfsd7b^tm1Jlab/Mfsd7b^tm1Jlab Tg(Mx1-cre)1Cgn/0	3	involves: 129S4/SvJae * C57BL/6 * CBA	J:132057
Rpsa^tm1Ells/Rpsa⁺		involves: 129S6/SvEvTac * C57BL/6	J:138267
Models involving transgenes or other mutation types.²
Tg(CAG-RPS19*R62W)#Dmb/0 Tg(Prnp-GFP/cre)1Blw/0	3	involves: 129S6/SvEvTac * FVB/N	J:165876

¹The causal human genes for this disease have not been identified. Genotypes may include cases where the mouse structural gene or the human ortholog has not been identified.
²Models involving transgenes or other mutation types may also appear in other sections of the table.
³Conditionally targeted allele(s)

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