A loxP site and a mini-cDNA representing exons 47-51 through to the poly(A) signal sequence, followed by an FRT site flanked neomycin resistance gene cassette and a second loxP site, were inserted into intron 46. Proline codon 1153 (CCC) in the endogenous exon 47 was changed to alanine (GCC) (p.P1153A). Only after Cre-mediated removal of the inserted wildtype sequence will this allele express the mutated version. (J:298033)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count