The targeting construct created a mutation (TCC-to-GCC) in exon 5 resulting in the amino acid substitution of serine with alanine at position 180 (p.S180A) and inserted a loxP site flanked STOP/selection cassette. upstream of exon 5 (J:302502)
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