A neomycin resistance gene cassette replaced 42 kb of sequence encompassing 23 kb upstream of the gene and Snrpn exons 1-6. Unintentionally, the neo gene and several kb of flanking endogenous sequence (from upstream of Snrpn) was amplified four-fold at the insertion site. Northern blot analysis of brain tissue using a cDNA probe for the gene did not detect any transcript in heterozygous mutant mice. The deleted upstream sequence includes Prader-Willi syndrome imprinting center PWS-IC Rr346 and Angelman syndrome imprinting center AS-IC Rr70. (J:47318, J:61887, J:69578)
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