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Il12rb2Ifnm-d
Spontaneous Allele Detail
Summary
Symbol: Il12rb2Ifnm-d
Name: interleukin 12 receptor, beta 2; interferon response to microorgansisms, defective
MGI ID: MGI:2156401
Synonyms: Ifnm
Gene: Il12rb2  Location: Chr6:67268302-67353172 bp, - strand  Genetic Position: Chr6, 30.81 cM
Alliance: Il12rb2Ifnm-d page
Mutation
origin
Strain of Origin:  C57BL/10ScCr
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsThe defective IL-12 response in C57BL/10ScCr mice has been attributed to a point mutation in the Il12rb2 gene. The substitution of a C to G at coding nucleotide 2331 creates a premature stop codon at tyrosine amino acid position 778 (p.Y778*). The resulting truncated protein lacks the C-terminal 96 amino acids of cytosplasmic domain. (J:70821)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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 Il12rb2 Mutation:  48 strains or lines available
References
Original:  J:70821 Poltorak A, et al., A point mutation in the il-12rbeta2 gene underlies the il-12 unresponsiveness of lps-defective c57bl/10sccr mice. J Immunol. 2001 Aug 15;167(4):2106-11
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
12/10/2024
MGI 6.24
The Jackson Laboratory