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Deletion of exon 2 (with the exception of its splicing acceptor site), intron 2, and 102 bp of exon 3. The resulting protein is truncated from amino acid 11-132l. This region contains the autonomous AF-1 activation function and several phosphorylation sites. This is a null mutation for the alpha 2 and 3 isoforms. (J:69853)
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
