Dock5^rlc
Spontaneous Allele Detail

Summary

• Symbol: Dock5^rlc
• 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: Dock5^rlc page

Mutation origin

• Strain of Origin: CXSN/A

Mutation description

• 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

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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: 158 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: 7 reference(s)