The second exon was replaced with one in which nucleotide substitutions result in the replacement of arginine and lysine at amino acid positions 36 and 37, respectively, by two alanines (RK to AA: R36A, K37A). This mutation in the RK doublet decreases its specific capture by the parvalbumin cells in the visual cortex. Cre-mediated recombination removed a floxed neomycin resistance cassette, leaving a single loxP site downstream of exon 2. (J:185952, J:207121)
Basic Information
Insertion, Nucleotide substitutions
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count