This allele was generated at The Jackson Laboratory by electroporating Cas9 protein and 2 guide sequences TGAAAAGATCTTAGTGTAAG and ACCCTGTCAGGTACTAAAGA, which resulted in a 355 bp deletion beginning at Chromosome 12 position 31,626,659 bp and ending after 31,627,013 bp (GRCm38/mm10). This mutation deletes ENSMUSE00000107429 (exon 4) and 204 bp of flanking intronic sequence including the splice acceptor and donor and is predicted to cause a change of amino acid sequence after residue 64 and early truncation 2 amino acids later. There is a 3 bp insertion (CTG) at the deletion site. (J:188991)
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