Insertion of a gene trap vector resulted in aberrant splicing from exon 63 to the inserted Beta-geo gene. RT-PCR analysis demonstrated that the mRNA was mutated in this allele, although a very low level of wild-type transcript was detected in brain. Full length wild-type protein could not be detected by Western blotting in tissue extracts derived from hemizygous males. (J:47968)
Basic Information
129S1/Sv-Oca2+ Tyr+ Kitl+
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