Hr^m5Btlr
Chemically induced Allele Detail

Summary

• Symbol: Hr^m5Btlr
• Name: lysine demethylase and nuclear receptor corepressor; mutation 5, Bruce Beutler
• MGI ID: MGI:5619134
• Synonyms: yuanxiao
• Gene: Hr Location: Chr14:70789652-70810988 bp, + strand Genetic Position: Chr14, 36.32 cM
• Alliance: Hr^m5Btlr page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis induced a G to A transition at base pair 70,571,448 (v38) on chromosome 14, or base pair 17,393 in the GenBank genomic region NC_000080 encoding Hr. The mutation corresponds to residue 3,957 in the mRNA sequence NM_021877 within exon 18 of 20 total exons. The mutation results in an arginine (R) to histidine (H) substitution at position 1117 (R1117H) in the ENSMUSP00000124042 isoform of the Hairless (HR) protein and R1088H in the NP_068677 isoform of HR. (J:218969)
• Inheritance: Recessive

Expression

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 Hr Mutation: 87 strains or lines available

References

• Original: J:218969 Zhang Z, et al., Mutagenetix entry for yuanxiao. MGI Direct Data Submission. 2015
• All: 1 reference(s)