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Exon 2, which encodes the first 69 amino acids (including the initiator methionine), and surrounding intronic sequence were replaced with a neomycin selection cassette. RT-PCR and sequence analysis showed the presence of an aberrantly spliced transcript in which exon 1 had joined exon 3. The aberrant transcript was shown by Western blot analysis to produce a 37kDa protein via an in-frame translational start site at nucleotide 571 (aa 93). The mutant protein lacks the Ets DNA-binding domain. (J:71816)
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
