Unc13d^Jinx
Chemically induced Allele Detail

Summary

• Symbol: Unc13d^Jinx
• Name: unc-13 homolog D; Jinx
• MGI ID: MGI:3628822
• Synonyms: Jinx, Munc13-4^jinx
• Gene: Unc13d Location: Chr11:115952921-115968787 bp, - strand Genetic Position: Chr11, 80.91 cM
• Alliance: Unc13d^Jinx page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: A G to T transversion at position 4538 downstream from the distal end of exon 26 creats a new donor spice site which is used to the complete exclusion of the normal donor site. As a result, 53 additional intronic nucleotides are incorporated into the resulting mRNA. This results in 20 aberrant amino acids followed by premature termination due to an in-frame TGA codon after amino acid 859. This eliminates the second C2 domain and part of the second MHD. (J:88776, J:119974)
• Inheritance: Codominant

Disease models

Expression

In Structures Affected by this Mutation:

3 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 Unc13d Mutation: 63 strains or lines available

Notes

The mutation was identified as a result of immunocompromise observed in progeny of ENU-mutagenized mice during infection with mouse cytomegalovirus (MCMV).

References

• Original: J:105543 Crozat K, et al., Analysis of the MCMV resistome by ENU mutagenesis. Mamm Genome. 2006 May;17(5):398-406
• All: 32 reference(s)