Mechanism of action of RPS19R62W mutation in Diamond-Blackfan Anemia (DBA)

GSE22645

Mus musculus

6 Downloadable Samples

Affymetrix Mouse Genome 430A 2.0 Array (mouse430a2)

Submitter Supplied Information

Description

RPS19 mutations are the most common cause of the human disorder Diamond Blackfan Anemia. The R62W mutation was hypothesized to act in a dominant negative fashion and mice expressing RPS19R62W have many of the characteristics of Diamond Blackfan Anemia.

PubMed ID

20606162

Publication Title

A transgenic mouse model demonstrates a dominant negative effect of a point mutation in the RPS19 gene associated with Diamond-Blackfan anemia.

Total Samples

Submitter’s Institution

NIH

Authors

Devlin EE, Dacosta L, Mohandas N, Elliott G, Bodine DM

Source Repository

Gene Expression Omnibus (GEO)

Alternate Accession IDs

E-GEOD-22645

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