Rhbdf2^em2Mvw
Endonuclease-mediated Allele Detail

Summary

• Symbol: Rhbdf2^em2Mvw
• Name: rhomboid 5 homolog 2; endonuclease-mediated mutation 2, Michael Wiles
• MGI ID: MGI:6119764
• Synonyms: iR2^toc, Rhbdf2^P159L
• Gene: Rhbdf2 Location: Chr11:116488991-116517786 bp, - strand Genetic Position: Chr11, Syntenic
• Alliance: Rhbdf2^em2Mvw page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9-mediated mutagenesis created a leucine for proline substitution at amino acid 159 which is equivalent to the human tylosis p.P189L mutation. (J:244160)

Disease models

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

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 Rhbdf2 Mutation: 84 strains or lines available

References

• Original: J:244160 Hosur V, et al., Genetic deletion of amphiregulin restores the normal skin phenotype in a mouse model of the human skin disease tylosis. Biol Open. 2017 Aug 15;6(8):1174-1179
• All: 3 reference(s)