Primary Identifier | MGI:3795855 | Allele Type | Spontaneous |
Gene | Dock7 | Inheritance Mode | Recessive |
Strain of Origin | C57BL/6J | Is Recombinase | false |
Is Wild Type | false |
molecularNote | This mutation has been identified as a deletion within Dock7 that spans exons 22-28 of the gene's 48 exons, with endpoints in introns 22 and 29. Splicing of exon 21 directly to exon 29 yields an mRNA with a 922 bp deletion encompassing nucleotides 2597-3518 (numbering from the A of the translation initiation codon) and shifts the reading frame after codon 865 so that 30 incorrect amino acids are incorporated into the protein before its premature termination. Although the mutation was discovered among the G3 progeny of an ENU mutagenized male mouse, large deletions are not characteristically induced by ENU, and it is presumed to have occurred spontaneously. |