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441 bp of exon 1 (corresponding to amino acids 2-148) were deleted by homologous recombination. This mutation removed the coding sequence for the entire A domain and for three motifs in the B domain that are associated with the AF-1 transactivation function of the protein product. The deletion left intact the translational initiation codon (ATG) in exon 1 and 20 bp at the 3' extremity of exon 1. Immunoblot analysis of homozygote uterus extracts detected a truncated 49-kD protein product but no full length 66-kD protein product. This mutant protein was predicted to have similar functions as an endogenous 46-kD isoform that is produced in some tissues. (J:144952)
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
