Cre-mediated recombination excised exon 7 and a 3' FRT-flanked neo, which had been inserted via homologous recombination, in the germ line. Because exon 7 contains a nonintegral number of codons, a deletion of it results in a frame shift after amino acid 243 and premature stop codon in exon 8 after 8 amino acids. Northern blot detected transcript slightly smaller than that of wild-type, and RT-PCR confirmed it was the result of the deletion of exon 7. Western blot failed to detect protein in mutant mice brains. (J:91487)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count