Attempts to amplify the segment of exon 3 from the C57BL/6J DNA in the BXD29/TyJ strain representing nucleotides 279 - 708 of the cDNA sequence led to the discovery, near the 3' end of the gene, of a large insertion composed primarily of a repetitive sequence which exists in ~ 200 locations throughout the mouse genome. The insertion also includes a 239-bp sequence identical to a segment of Chr 10 between nucleotides 51,365,897 and 51,366,135 (build not identified). None of the endogenous gene is deleted, but the insertion is flanked at both ends by the same 8-nucleotide sequence (TCTTTCTT). Quantitative RT-PCR analysis detects no reduction in transcribed mRNA in peritoneal macrophages from mutant mice; however, these cells are not stained by antibodies against the encoded protein. (J:107391)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count