Rhbdf2^tm1Mak
Targeted Allele Detail

Summary

• Symbol: Rhbdf2^tm1Mak
• 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: Rhbdf2^tm1Mak 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

• 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 details: A 2.5 kb genomic fragment containing exons 4-14 was replaced with a pgk-neo cassette via homologous recombination. (J:179653)

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: 15 reference(s)