Gata1^tm4Sho
Targeted Allele Detail

Summary

• Symbol: Gata1^tm4Sho
• Name: GATA binding protein 1; targeted mutation 4, Stuart Orkin
• MGI ID: MGI:2183389
• Synonyms: GATA-1^KI, GATA-1^V205G
• Gene: Gata1 Location: ChrX:7825504-7842844 bp, - strand Genetic Position: ChrX, 3.59 cM, cytoband A2
• Alliance: Gata1^tm4Sho page

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 details: A 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)

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: 45 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)