The final coding exon was replaced with one in which a T to C point mutation results in the amino acid substitution of arginine for lysine at position 307 (L307R). Cre-mediated recombination removed the neomycin resistance cassette inserted downstream of the stop codon. (J:204987)
Basic Information
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count