Hr^rh-R
Spontaneous Allele Detail

Summary

• Symbol: Hr^rh-R
• Name: lysine demethylase and nuclear receptor corepressor; rhino Oak Ridge
• MGI ID: MGI:3580645
• Gene: Hr Location: Chr14:70789652-70810988 bp, + strand Genetic Position: Chr14, 36.32 cM
• Alliance: Hr^rh-R page

Mutation origin

• Strain of Origin: Mixed stock

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: A single nucleotide change (from C to T) was identified at coding nucleotide 2440. This change in exon 12 causes a premature stop codon at arginine 814 (p.R814*). (J:156542)
• Inheritance: Recessive

Expression

In Mice Carrying this Mutation:	2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	8 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 Hr Mutation: 84 strains or lines available

Notes

Direct Submssion mutation arose on a (JH x Sb)F1 where JH is a (C3H/Rl x 101)F1 and Sb is a (SEC/El x C57BL/RlEl)F1 and then maintained on a C3H/Rl x C57BL/10Rl background. (J:156918)

References

• Original: J:156542 Liu Y, et al., Molecular basis for hair loss in mice carrying a novel nonsense mutation (Hrrh-R ) in the hairless gene (Hr). Vet Pathol. 2010 Jan;47(1):167-76
• All: 1 reference(s)