This allele was generated at The Jackson Laboratory by electroporating Cas9 protein and 2 guide sequences TCAAGAGTTGGTTCAGTGGA and GCTGTAGTTTGGCACAGCAG, which resulted in a 2019 bp deletion beginning at Chromosome 1 position 80,198,618 bp and ending after 80,200,636 bp (GRCm38/mm10). This mutation deletes ENSMUSE00000409540 (exon 2) and 176 bp of flanking intronic sequence including the splice acceptor and donor and is predicted to cause a change of amino acid sequence after residue 244 and early truncation 27 amino acids later. (J:188991)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count