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

Symbol:	Dtnbp1sdy-Btlr
Name:	dystrobrevin binding protein 1; sandy Bruce Beutler
MGI ID:	MGI:3774127
Synonyms:	Dtnbp1m1Btlr, salt and pepper, spp
Gene:	Dtnbp1  Location: Chr13:45075552-45155614 bp, - strand  Genetic Position: Chr13, 21.73 cM
Alliance:	Dtnbp1sdy-Btlr page

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

Allele Type:    Chemically induced (ENU) Mutation:    Single point mutation   Mutation details: The spp mutation corresponds to an A to T transversion in the donor splice site of intron 5 (GTAAGT -> GTTAGT; position 19359 in the Genbank genomic region NC_000079). It is predicted to result in skipping of the 133-nucleotide 5th exon (of 10 total exons), shifting the reading frame so aberrant amino acids are encoded after aa position 74 and creating a premature stop codon that would terminate the protein after aa 76. (J:133620) 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: 1 strain available      Cell Lines: 0 lines available
Carrying any Dtnbp1 Mutation:	27 strains or lines available

Original:	J:133620 Georgel P, et al., Salt and pepper is an allele of Dtnbp1 and affects the immune system. MGI Direct Data Submission. 2008;
All:	3 reference(s)