Exon 1 through 3 were floxed. Cre-mediated recombination removed a floxed neomycin resistance cassette inserted downstream of exon 3. A point mutation results in the amino acid substitution of alanine for arginine at position 114 (R114A). Western blot analysis confirmed an 80%-90% reduction in protein level of this severely hypomorphic allele. (J:204811)
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