Rubie^SWR-J
Spontaneous Allele Detail

Summary

• Symbol: Rubie^SWR-J
• Name: RNA upstream of Bmp4 expressed in inner ear; SWR/J variant
• MGI ID: MGI:5568608
• Gene: Rubie Location: Chr14:46805788-46813308 bp, - strand Genetic Position: Chr14, 24.11 cM
• Alliance: Rubie^SWR-J page

Mutation origin

• Strain of Origin: SWR

Mutation description

• Allele Type: Spontaneous (Not Specified)
• Mutation: Viral insertion
• Mutation details: A large insertion in the first intron of the SWR allele is attributed to a 5542 bp ETnII-b endogenous retrovirus (ERV). A strain survey indicated that this insertion occurs only in SWR of the strains tested. Tested strains were: SWR, C57BL/10J, C57L/J, C57BL/6J, C58/J, C57BR/cdJ, C57BLKS/J, FVB/NJ, 129S6/SvEvTac, CBA/J, DBA/2J, C3H/HeJ, BALB/cJ, AKR/J. (J:209710)
• Inheritance: Recessive

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1	Rubie^SWR-J/Rubie^SWR-J	C57BL/10J-Chr 14^SWR/J/NcaMmnc

Phenotypes:

Affected Systems	hm1
show or hide all annotated terms
behavior/neurological	√
hyperactivity	√
bidirectional circling	√
hearing/vestibular/ear	√
abnormal inner ear development	√
abnormal lateral semicircular canal morphology	√

View phenotypes and curated references for all genotypes (concatenated display).

Expression

In Mice Carrying this Mutation:	10 assay results
In Structures Affected by this Mutation:	1 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 Rubie Mutation: 0 strains or lines available

Notes

Rubie expression is restricted to the inner ear and is expressed in the sensory cristae that give rise to the semicircular canals. It is the only compelling candidate gene in the chromosome 14 ecs QTL region.

References

• Original: J:209710 Roberts KA, et al., Mutation of Rubie, a novel long non-coding RNA located upstream of Bmp4, causes vestibular malformation in mice. PLoS One. 2012;7(1):e29495
• All: 1 reference(s)