A lacZ and neo cassette was inserted into the first exon, deleting 310 bp of exon 1, spanning the translation initiation site and the first 257 bp (85 codons). Lack of transcript was confirmed by Northern blot of mutant heart, kidney and lung. Beta-galactosidase was expressed from this allele under the control of the endogenous promoter. (J:89618)
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