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Rhbdf2m1Btlr
Chemically induced Allele Detail
Summary
Symbol: Rhbdf2m1Btlr
Name: rhomboid 5 homolog 2; mutation 1, Bruce Beutler
MGI ID: MGI:5437475
Synonyms: iRhom2I387F, Rhbdf2sin, Rhbdf2sinecure
Gene: Rhbdf2  Location: Chr11:116488991-116517786 bp, - strand  Genetic Position: Chr11, Syntenic
Alliance: Rhbdf2m1Btlr page
Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: Beutler Mutagenetix
Mutation
description
Allele Type:    Chemically induced (ENU) (Hypomorph)
Mutation:    Single point mutation
 
Mutation detailsENU mutagenesis induced an A to T transversion that results in the amino acid substitution of phenylalanine for isoleucine at position 387 (I387F). This allele is hypomorphic. (J:187583)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Find Mice (IMSR)
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 Rhbdf2 Mutation:  84 strains or lines available
References
Original:  J:187583 Siggs OM, et al., iRhom2 is required for the secretion of mouse TNFalpha. Blood. 2012 Jun 14;119(24):5769-71
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory