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)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count