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Unc13dJinx
Chemically induced Allele Detail
Summary
Symbol: Unc13dJinx
Name: unc-13 homolog D; Jinx
MGI ID: MGI:3628822
Synonyms: Jinx, Munc13-4jinx
Gene: Unc13d  Location: Chr11:115952921-115968787 bp, - strand  Genetic Position: Chr11, 80.91 cM
Alliance: Unc13dJinx page
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsA 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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)

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
11/12/2024
MGI 6.24
The Jackson Laboratory