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Rhbdf2cub
Spontaneous Allele Detail
Nomenclature
Symbol: Rhbdf2cub
Name: rhomboid 5 homolog 2; curly bare
MGI ID: MGI:2653121
Gene: Rhbdf2  Location: Chr11:116598165-116627019 bp, - strand  Genetic Position: Chr11, 81.43 cM
Mutation
origin
Strain of Origin:  STOCK a us
Mutation
description
Allele Type:    Spontaneous (Not Applicable)
Mutation:    Intragenic deletion
 
Mutation detailsA spontaneous mutation resulted in a 12,681 bp deletion removing exons 2-6. An aberrant transcript containing exon 1 spliced to exon 7 was detected in homozygous mice. Noncomplementation with Rhbdf2tm1a(KOMP)Wtsi indicates that this is a gain of function mutation. (J:211269)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 14 assay results
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Rhbdf2 Mutation:  63 strains or lines available
References
Original:  J:82006 Johnson KR, et al., Curly bare (cub), a new mouse mutation on chromosome 11 causing skin and hair abnormalities, and a modifier gene (mcub) on chromosome 5. Genomics. 2003 Jan;81(1):6-14
All:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/14/2017
MGI 6.08
The Jackson Laboratory