The translation start codon, AUG, in exon 2 was replaced with a stop codon, UAG, and removed around 200 bp upstream of the putative transcriptional start site of promoter 2. This allele maintains expression from promoter 1 (P1), but not promoter 2 (P2). Cre-mediated recombination removed the flocked neomycin resistance cassette. (J:245723)
Basic Information
Insertion, Intragenic deletion, Nucleotide substitutions
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count