A cassette containing lacZ and neo was inserted into exon 1 at the start codon via homologous recombination. The insertion deleted the coding region of exon 1 which encodes 15 N-terminal residues. Endogenous protein was undetected by Western blot analysis of homozygous mutant heart tissue. (J:85181)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count