The gene trap vector integrated between the two exons that contribute equally to the complete SH2 domain. A truncation was predicted in the middle of the SH2 domain at amino acid 74, which would result in a nonfunctional SH2 domain. Northern blot and RT-PCR confirmed loss of wild-type transcript in mutants. (J:110009)
Basic Information
Insertion of gene trap vector
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count