Cre-mediated recombination of loxP sites surrounding exon 2, which includes part of the 5' UTR and codes for the N-terminal 280 of 2542 amino acids of the protein, resulted in the removal of this exon in the germline. Expression of the encoded protein was shown to be abolished by Western blot analysis of protein extracts derived from homozygous mutant mice. (J:251454)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count