Summary | Mutation origin | Mutation description | Phenotypes | Find Mice (IMSR) | References

Symbol:	Nfkb2m2Btlr
Name:	nuclear factor of kappa light polypeptide gene enhancer in B cells 2, p49/p100; mutation 2, Bruce Beutler
MGI ID:	MGI:5640748
Synonyms:	pale_fire
Gene:	Nfkb2  Location: Chr19:46292759-46300824 bp, + strand  Genetic Position: Chr19, 38.8 cM, cytoband C3-D2
Alliance:	Nfkb2m2Btlr page

Strain of Origin:	C57BL/6J
Project Collection:	Beutler Mutagenetix

Allele Type:    Chemically induced (ENU) Mutation:    Single point mutation   Mutation details: The mutation is an A to T transversion at base pair 46,311,626 (v38) on chromosome 19, or base pair 8,015 in the GenBank genomic region NC_000085. The mutation corresponds to residue 2,821 in the mRNA sequence NM_019408 (variant 1) within exon 21 of 22 total exons, to residue 2,670 in the mRNA sequence NM_001177369 (variant 2) within exon 22 of 23 total exons, and residue 2,586 in the mRNA sequence NM_001177370 (variant 3) within exon 21 of 22 total exons. The mutation results in a methionine (M) to leucine (L) substitution at position 838 (M838L) in all isoforms of the protein. (J:221493) Inheritance:    Recessive

View phenotypes and curated references for all genotypes (concatenated display).

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Nfkb2 Mutation:	49 strains or lines available

Original:	J:221493 Murray AR, et al., Mutagenetix entry for pale_fire. MGI Direct Data Submission. 2015;
All:	1 reference(s)