The molecular lesion is a T to A transversion at base pair 135,595,053 (v38) on chromosome 3, corresponding to base pair 96,495 in the GenBank genomic region NC_000069 encoding Nfkb1. This corresponds to nucleotide 2,253 in the NM_008689 mRNA sequence, in exon of 18 of 25 total exons, as well as to residue 1,765 in the ENSMUST00000164430 cDNA sequence, in exon 16 of 23 total exons. The mutation results in premature termination of the protein, instead of insertion of leucine (L), at amino acid position 584 (L584Ter). (J:216054)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Semidominant
1
3
1

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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