Lrguk^Kaos
Chemically induced Allele Detail

Summary

• Symbol: Lrguk^Kaos
• Name: leucine-rich repeats and guanylate kinase domain containing; kaos
• MGI ID: MGI:5645723
• Gene: Lrguk Location: Chr6:34006379-34110969 bp, + strand Genetic Position: Chr6, 14.75 cM, cytoband B1
• Alliance: Lrguk^Kaos page

Lrguk^Kaos/Lrguk^Kaos mice are oligoasthenoteratospermic and sterile

Show the 4 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C57BL/6
• Project Collection: APF ENU Mutagenesis

Mutation description

Allele Type: Chemically induced (ENU) (Hypomorph, Modified isoform(s)) Mutation: Single point mutation Mutation details: Sequencing revealed a C to T substitution in exon 14 of the gene. Three splice variants are predicted to be encoded by this gene. The longest transcript is the only isoform affected by the mutation. The C to T mutation is predicted to result in the conversion of an arginine at position 528 of the encoded protein to a premature termination codon (R528Stop) and in turn the truncation of 293 residues from the C-terminal region. (J:222840)

The Lrguk^Kaos mutation resulted in the conversion of arginine 528 to a stop codon (R528*)

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Lrguk Mutation: 42 strains or lines available

References

• Original: J:222840 Liu Y, et al., LRGUK-1 is required for basal body and manchette function during spermatogenesis and male fertility. PLoS Genet. 2015 Mar;11(3):e1005090
• All: 2 reference(s)