Coding sequence was disrupted by the insertion of a neomycin selection cassette. While normal protein was undetected by Western blot analysis of MEFs derived from homozygous mutant mice, low levels of a shortened peptide containing both amino and carboxy termini was. Calcium mobilization assays showed that the mutant protein responded to serum, but not epidermal growth factor. (J:39281)
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