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Targeted Allele Detail
Symbol: Rhbdf1tm1b(EUCOMM)Wtsi
Name: rhomboid 5 homolog 1; targeted mutation 1b, Wellcome Trust Sanger Institute
MGI ID: MGI:5792831
Synonyms: iR1-, iRhom1-, Rhbdf1v2
Gene: Rhbdf1  Location: Chr11:32159585-32172300 bp, - strand  Genetic Position: Chr11, 18.83 cM
Alliance: Rhbdf1tm1b(EUCOMM)Wtsi page
IMPC: Rhbdf1 gene page
Failure of eyelid closure, enlarged aortic, pulmonic, and tricuspid heart valves, and enlarged zone of hypertrophic chondrocytes in growth plates of Rhbdf1tm1b(EUCOMM)Wtsi/Rhbdf1tm1b(EUCOMM)Wtsi Rhbdf2tm1Mak/Rhbdf2tm1Mak (iR1/2-/-) and Adam17tm1.1Bbl/Adam17tm1.1Bbl mice.

Show the 2 phenotype image(s) involving this allele.

Mutant Cell Line:  EPD0577_2_H04
Germline Transmission:  Earliest citation of germline transmission: J:221411
Parent Cell Line:  JM8A3.N1 (ES Cell)
Strain of Origin:  C57BL/6N-Atm1Brd
Project Collection: EUCOMM
Allele Type:    Targeted (Modified isoform(s), Reporter)
Mutations:    Insertion, Intragenic deletion     Vector: L1L2_Bact_P
Mutation detailsThe L1L2_Bact_P cassette was inserted at position 32162365 of Chromosome 11 upstream of the critical exon(s) (Build GRCm39). The cassette is composed of an FRT site followed by lacZ sequence and a loxP site. This first loxP site is followed by neomycin resistance gene under the control of the human beta-actin promoter, SV40 polyA, a second FRT site and a second loxP site. A third loxP site is inserted downstream of the targeted exon(s) at position 32165412. The critical exons 4-11 are thus flanked by loxP sites. Cre-mediated recombination removed the neomycin selection cassette and exons 4-11. Quantitative PCR analysis revealed that whereas expression of exons 1-2 is detectable in homozygous mutant mouse embryonic fibroblasts (MEFs), exons 4-5, 12-13, and 16-17 are not expressed. Thus, any protein fragment, if produced in mutant mice, is expected to lack all transmembrane domains and most of the N-terminal cytoplasmic domain. (J:221411, J:291556)
Generation of the Rhbdf1tm1b(EUCOMM)Wtsi allele
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: 0 strains available      Cell Lines: 0 lines available
Carrying any Rhbdf1 Mutation:  43 strains or lines available
Original:  J:221411 Li X, et al., iRhoms 1 and 2 are essential upstream regulators of ADAM17-dependent EGFR signaling. Proc Natl Acad Sci U S A. 2015 May 12;112(19):6080-5
All:  5 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
MGI 6.13
The Jackson Laboratory