An exon encoding the PDZ1 domain was disrupted by the insertion of a neomycin cassette. Protein was undetected by Western blot analysis of whole brain lysates obtained from homozygous neonates. (J:88266)
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