A 200 bp exon containing the translational start codon and a 5' portion of the DNA binding domain was replaced with a neomycin selection cassette. Transcript was undetected by Northern blot analysis of brain, heart, kidney, liver, and lung tissue. Western blot analysis of testis extract indicated a lack of protein in homozygous mutant mice. To confirm that this absence was due to a disrupted allele and not the labile nature of the protein, MEFs treated with proteasome inhibitors were analyzed and similar results were obtained. (J:79910)
Basic Information
Insertion, Intragenic deletion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count