Rhbdf2^cub
Spontaneous Allele Detail

Summary

• Symbol: Rhbdf2^cub
• Name: rhomboid 5 homolog 2; curly bare
• MGI ID: MGI:2653121
• Gene: Rhbdf2 Location: Chr11:116488991-116517786 bp, - strand Genetic Position: Chr11, Syntenic
• Alliance: Rhbdf2^cub page

Mutation origin

• Strain of Origin: STOCK a us

Mutation description

• Allele Type: Spontaneous (Not Applicable, Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: A 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 Rhbdf2^{tm1a(KOMP)Wtsi} indicates that this is a gain of function mutation. (J:211269)
• Inheritance: Recessive

Disease models

Expression

In Mice Carrying this Mutation:	14 assay results
In Structures Affected by this Mutation:	10 anatomical structure(s)

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: 84 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: 8 reference(s)