The mouse coding sequence was replaced by a BAC sequence containing a floxed human gene into which a single nucleotide substitution (rs3540074) was inserted to create a stop codon. The BAC sequence contained, in addition, an FRT flanked PGF-neo cassette. The inserted sequence encodes a truncated protein containing amino acids 1-524. (J:212045)
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