1,126 bp of the gene, including part of exon 2 and part of exon 3, was replaced with a PGK-neo cassette via homologous recombination. The targeted mutation disrupts the transmembrane domain and the 5'-3' phosphoadenosine 5'-phosphosulfate-binding motif. Northern blot analysis of brain RNA and RT-PCR analysis of testicular RNA showed that gene expression is abolished in homozygous mutant animals. (J:78560)
Basic Information
Insertion, Intragenic deletion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count