CRISPR-targeting was used to produce a C-to-G mutation in the splice acceptor region of intron 4 (changing it from CAG to GAG) to exclude exon 5 in the mature transcript. Additionally, the allele contains a synonymous exonic nucleotide substitution 11 bp 3' to the primary mutation site. The splice region mutation recreates the spontaneous mutation found in C57BL/6J mice: Snrnp40. (J:282417)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count