The exon encoding the putative third transmembrane domain was disrupted by the insertion of a neomycin selection cassette. While transcript of approximately normal length was detected by Northern blot analysis of homozygous mutant cerebral RNA, RT-PCR analysis showed the transcript to lack exon 4. An absence of normal transcript was confirmed by in situ hybridization. Protein was undetected by Western blot analysis of cerebral membrane fractions. (J:40984)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count