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Dock5rlc
Spontaneous Allele Detail
Nomenclature
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
Mutation
origin
Strain of Origin:  CXSN/A
Mutation
description
Allele Type:    Spontaneous
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsThe 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 anatomical structures
Find Mice (IMSR)
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:  128 strains or lines available
Notes
Also independently published as lr2, this mutation was identified in a CXS Recombinant Inbred line.
References
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:  6 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
09/27/2022
MGI 6.21
The Jackson Laboratory