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Allele : Gata1<tm4Sho> GATA binding protein 1; targeted mutation 4, Stuart Orkin

Primary Identifier  MGI:2183389 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Gata1
Transmission  Germline Strain of Origin  129S6/SvEvTac
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Insertion,
  • Nucleotide substitutions
  • synonyms:
  • GATA-1<KI>,
  • GATA-1<KI>,
  • GATA-1<V205G>,
  • GATA-1<V205G>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

5 Publication categories