Homologous recombination of targeting construct containing lacZ and neo replaced sequence encompassing a portion of exon 3, all of exon 4, and the murine endogenous retrovirus (MuERV) within intron 4 of the 129 genetic background. The lacZ sequence was fused in frame with the second start codon of exon 3, which is common to all known isoforms. While no full length transcripts were identified in homozygous mutant mice, aberrantly spliced truncated transcripts were detected, though no protein was detected by Western blot or immunohistochemical analysis. (J:82739)
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