| Primary Identifier | MGI:1861664 | Allele Type | Spontaneous |
| Gene | Dock5 | Inheritance Mode | Recessive |
| Strain of Origin | CXSN/A | Is Recombinase | false |
| Is Wild Type | false |
| description | Also independently published as lr2, this mutation was identified in a CXS Recombinant Inbred line. |
| molecularNote | The mutation is a deletion of 27 nucleotides at the 3' terminus of exon 15 (nt 1754-1780, GenBank Accession ID XM_990099), including one copy of a duplicated 7-nucleotide sequence that occurs immediately upstream of the deleted bases and at the 3' end of the deletion; retention of a copy leaves the splice signal at the exon-intron boundary intact. The deletion results in loss of 9 amino acids (aa 506-514), 4 of them very highly conserved, within the DOCK homology region 1 (DRH1) domain of the protein. RT-PCR of mRNA from embryos/mice of various ages and from various organs of 3 week-old mice demonstrates identical expression patterns of wild-type and shorter mutant transcripts. Immunoblot analysis of eye, lung and kidney extracts detects much less immunoreactive protein in mutant than in wild-type tissues. The protein is barely detectable immunohistochemically in the anterior epithelium of the mutant lens, its predominant location in lenses of wild-type mice. |
