A neo cassette replaced 129 nucleotides of exon 7 resulting in the deletion of amino acids 216 - 258. RT-PCR analysis showed the expression of a truncated transcript. (J:175364)
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