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Rhbdf1tm1b(EUCOMM)Wtsi
Targeted Allele Detail
Summary
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.

Mutation
origin
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
Mutation
description
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
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: 0 strains available      Cell Lines: 0 lines available
Carrying any Rhbdf1 Mutation:  43 strains or lines available
References
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
06/12/2024
MGI 6.13
The Jackson Laboratory