The allele was generated by site directed mutagenesis that delete 3 bp in exon 13 (TGACGATGAT---AATG). This mutation (D469del) occurs in the TSP3 region of the protein. Cre-mediated recombination removed the floxed selection cassette in intron 16. Western blot analysis confirmed expression of the monomeric protein. (J:206511)
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