Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | Notes | References

Symbol:	Dock5rlc
Name:	dedicator of cytokinesis 5; rupture of lens cataract
MGI ID:	MGI:1861664
Synonyms:	lr2
Gene:	Dock5  Location: Chr14:67989584-68170891 bp, - strand  Genetic Position: Chr14, 34.66 cM
Alliance:	Dock5rlc page

Strain of Origin:

CXSN/A

Allele Type:    Spontaneous Mutations:    Insertion, Intragenic deletion   Mutation details: 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. (J:134025) Inheritance:    Recessive

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

1 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Dock5 Mutation:	158 strains or lines available

Original:	J:38732 Iida F, et al., Rupture of lens cataract: a novel hereditary recessive cataract model in the mouse. Exp Eye Res. 1997 Jan;64(1):107-13
All:	7 reference(s)