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Gata1tm4Sho
Targeted Allele Detail
Nomenclature
Symbol: Gata1tm4Sho
Name: GATA binding protein 1; targeted mutation 4, Stuart Orkin
MGI ID: MGI:2183389
Synonyms: GATA-1KI, GATA-1V205G
Gene: Gata1  Location: ChrX:7959260-7976663 bp, - strand  Genetic Position: ChrX, 3.59 cM, cytoband A2
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:77724
Parent Cell Line:  TL1/TL-1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsA valine to glycine substitute at amino acid 205 (V205G) of exon 4 and a floxed neo cassette insertion in the downstream intron were introduced to the gene via homologous recombination. The V205G mutation disrupts the FOG-binding region without affecting DNA-binding ability, and, in humans, results in severe congenital dyserythropoietic anemia and thrombocytopenia. The neo cassette was removed by transient expression of cre recombinase in correctly targeted ES cells. (J:77724)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Gata1 Mutation:  42 strains or lines available
References
Original:  J:77724 Chang AN, et al., GATA-factor dependence of the multitype zinc-finger protein FOG-1 for its essential role in megakaryopoiesis. Proc Natl Acad Sci U S A. 2002 Jul 9;99(14):9237-42
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
12/03/2019
MGI 6.14
The Jackson Laboratory