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Rhbdf2tm1Mak
Targeted Allele Detail
Summary
Symbol: Rhbdf2tm1Mak
Name: rhomboid 5 homolog 2; targeted mutation 1, Tak Mak
MGI ID: MGI:5309136
Synonyms: iR2-, iRhom2-
Gene: Rhbdf2  Location: Chr11:116488991-116517786 bp, - strand  Genetic Position: Chr11, Syntenic
Alliance: Rhbdf2tm1Mak 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
Germline Transmission:  Earliest citation of germline transmission: J:179653
Parent Cell Line:  E14K (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA 2.5 kb genomic fragment containing exons 4-14 was replaced with a pgk-neo cassette via homologous recombination. (J:179653)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 2 anatomical structure(s)
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:179653 McIlwain DR, et al., iRhom2 regulation of TACE controls TNF-mediated protection against Listeria and responses to LPS. Science. 2012 Jan 13;335(6065):229-32
All:  14 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