Exon 3 was removed via cre-mediated recombination in ES cells, resulting in a frameshift mutation and a premature translation product containing only the N-terminal 42 residues. Absence of transcript was confirmed by RT-PCR of mutants. (J:117102)
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