RGD Reference Report - Phenotypic correction of Fanconi anemia group C knockout mice. - Rat Genome Database

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Phenotypic correction of Fanconi anemia group C knockout mice.

Authors: Gush, KA  Fu, KL  Grompe, M  Walsh, CE 
Citation: Gush KA, etal., Blood. 2000 Jan 15;95(2):700-4.
RGD ID: 11045794
Pubmed: PMID:10627482   (View Abstract at PubMed)

Fanconi anemia (FA) is a genetic disorder characterized by bone marrow failure, congenital anomalies, and a predisposition to malignancy. FA cells demonstrate hypersensitivity to DNA cross-linking agents, such as mitomycin C (MMC). Mice with a targeted disruption of the FANCC gene (fancc -/- nullizygous mice) exhibit many of the characteristic features of FA and provide a valuable tool for testing novel therapeutic strategies. We have exploited the inherent hypersensitivity of fancc -/- hematopoietic cells to assay for phenotypic correction following transfer of the FANCC complementary DNA (cDNA) into bone marrow cells. Murine fancc -/- bone marrow cells were transduced with the use of retrovirus carrying the human fancc cDNA and injected into lethally irradiated recipients. Mitomycin C (MMC) dosing, known to induce pancytopenia, was used to challenge the transplanted animals. Phenotypic correction was determined by assessment of peripheral blood counts. Mice that received cells transduced with virus carrying the wild-type gene maintained normal blood counts following MMC administration. All nullizygous control animals receiving MMC exhibited pancytopenia shortly before death. Clonogenic assay and polymerase chain reaction analysis confirmed gene transfer of progenitor cells. These results indicate that selective pressure promotes in vivo enrichment of fancc-transduced hematopoietic stem/progenitor cells. In addition, MMC resistance coupled with detection of the transgene in secondary recipients suggests transduction and phenotypic correction of long-term repopulating stem cells. (Blood. 2000;95:700-704)

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
pancytopenia  IMP 11045794 RGD 
pancytopenia  ISOFANCC (Homo sapiens)11045794; 11045794 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Fancc  (FA complementation group C)

Genes (Mus musculus)
Fancc  (Fanconi anemia, complementation group C)

Genes (Homo sapiens)
FANCC  (FA complementation group C)


Additional Information