A C-to-T point mutation located in exon 47 results in a premature stop codon at the arginine codon (p.R2034*). This results in reduced levels of mRNA and absence of detectable levels of protein in bone marrow derived dendritic cells from homozygous mice. This mutation was found in mice carrying Nlrp10tm1Seis (J:220239)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6
Spontaneous
Single point
--
1
4
2

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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