This allele was generated at The Jackson Laboratory by electroporating Cas9 protein and 2 guide sequences GATTTCCAGGAGGTGATCCC and CCAGTGCTATTAAGCTACCA, which resulted in a 391 bp deletion beginning at Chromosome 5 position 31,531,863 bp and ending after 31,532,253 bp (GRCm38/mm10). This mutation deletes ENSMUSE00001226900 (exon 4) and 330 bp of flanking intronic sequence including the splice acceptor and donor and is predicted to cause a change of amino acid sequence after residue 328 and early truncation 2 amino acids later. There is a single bp insertion (A) 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