The 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)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/10ScCr
Spontaneous
Single point
Recessive
1
--
6

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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