A cassette containing NLS-lacZ and neo genes was inserted downstream of the translational start codon in exon 2 via homologous recombination. Normal transcript was undetected by RT-PCR analysis of heart, skeletal muscle, and bladder tissue obtained from homozygous mutant mice. Although the 5' UTR and all intronic sequences were left intact, the expression of beta-galactosidase did not completely correlate with that of the endogenous gene. (J:74656)
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