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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)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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References Literature
Title
PMID
Journal
Year
IF
