ENU mutagenesis induced a T to C transition at 59369377 bp or position 2672 of the Nlrp3 transcript in exon 6 of 10 total exons (Genbank record NM_145827). The mutation is located in the fifth coding exon and results in a cysteine to arginine substitution at amino acid 816 (C816R). (J:171739)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
--
1
7
--

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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