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Rhbdf2em2Mvw
Endonuclease-mediated Allele Detail
Nomenclature
Symbol: Rhbdf2em2Mvw
Name: rhomboid 5 homolog 2; endonuclease-mediated mutation 2, Michael Wiles
MGI ID: MGI:6119764
Synonyms: Rhbdf2P159L
Gene: Rhbdf2  Location: Chr11:116598165-116627019 bp, - strand  Genetic Position: Chr11, 81.43 cM
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Endonuclease-mediated (Humanized sequence)
Mutation:    Nucleotide substitutions
 
Mutation detailsCRISPR/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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 5 anatomical structures
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:  52 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:  1 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
09/22/2020
MGI 6.16
The Jackson Laboratory