Foxn1^em1Oers

Four nucleotides were inserted (TCCC) into exon 7 using an sgRNA and an ssODN template with CRISPR/Cas9 technology, resulting in a frameshift and premature stop codon (p.D313Sfs*11). The mutation replicates a human mutation (ACCC duplication) associated with thymic-hypoplasia-linked SCID without alopecia or nail dystrophy when compound heterozygous with another mutation in the same gene (represented by the Foxn1em2Oers allele). (J:280961)