ENU-induced A to G transition at base pair 71,122,705 (v38) on chromosome 11, or base pair 22,269 in the GenBank genomic region NC_000077 encoding Nlrp1a. The mutation corresponds to residue 1,936 in the mRNA sequence NM_001004142 within exon 3 of 14 total exons. The mutation results in an aspartic acid to glycine substitution at amino acid 573 (D573G) in the NLRP1A protein. (J:265173)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count