The gene was disrupted by replacement of 1300 bp of the proline-rich exon with a neomycin resistance cassette via homologous recombination, introducing stop codons in all 3 reading frames. The deleted region encodes 433 amino acids and contains the FH1 domain. Northern blot analysis of brain RNA from homozygous mutants confirmed the absence of wild-type gene product. A partial read-through transcript containing the neomycin cassette was observed. (J:81246)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count