Rhbdf1^{tm1b(EUCOMM)Wtsi}
Targeted Allele Detail

Summary

• Symbol: Rhbdf1^{tm1b(EUCOMM)Wtsi}
• Name: rhomboid 5 homolog 1; targeted mutation 1b, Wellcome Trust Sanger Institute
• MGI ID: MGI:5792831
• Synonyms: iR1^-, iRhom1^-, Rhbdf1^v2
• Gene: Rhbdf1 Location: Chr11:32159585-32172300 bp, - strand Genetic Position: Chr11, 18.83 cM
• Alliance: Rhbdf1^{tm1b(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 Rhbdf1^{tm1b(EUCOMM)Wtsi}/Rhbdf1^{tm1b(EUCOMM)Wtsi} Rhbdf2^tm1Mak/Rhbdf2^tm1Mak (iR1/2-/-) and Adam17^tm1.1Bbl/Adam17^tm1.1Bbl 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-A^tm1Brd
• Project Collection: EUCOMM

Mutation description

Allele Type: Targeted (Modified isoform(s), Reporter) Mutations: Insertion, Intragenic deletion Vector: L1L2_Bact_P Mutation details: The 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 Rhbdf1^tm1b(EUCOMM)Wtsi allele

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)