A lacZ-neo fusion gene was inserted into exon 2, which encodes the basic helix-loop-helix (bHLH) domain. Northern blot analysis using a bHLH probe failed to detect transcript in total RNA isolated from homozygous mutant brain tissue. A second transcript, in which the inserted lacZ-neo gene is excised, was observed. This transcript was also found to be functionally inactive due to the lack of the bHLH domain. (J:63035)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count