An in frame insertion of a lacZ/neo cassette in exon 1 replaced a 640 bp segment following the endogenous start codon. Quantitative RT-PCR and western blot analysis detected reduced mRNA and protein expression in multiple tissues in heterozygous mice. LacZ expression was detected in the brain, heart and soleus muscle of heterozygous mice. (J:205481)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count