An 8.1 kb neomycin resistance cassette containing a transcription terminating upstream mouse sequence (UMS) element replaced the promoter, exon 1, and part of intron 1. Northern blot analyses of total brain RNA from heterozygous mutant mice using antisense oligonucleotide probes specific for exon 6 and exon 7 did not detect aberrant mRNA transcribed from the mutant allele. Whole mount immunohistochemical studies using antisera directed against the first 20 amino acids of the protein, and which does not cross react with the Cbeta subunit, did not detect protein in homozygous mutant E7.5 embryos. (J:50519)
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