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Strain Detail Sheet

Strain Name:
C57BL/6J-Hrm5Btlr/Mmmh
Stock Number:
038175--TBD-
Citation ID:
RRID:MMRRC_038175--TBD-
Other Names:
yuanxiao
Major Collection:
Beutler Mutagenetix

Strain Information

Gene Details

Hrm5Btlr
Name: lysine demethylase and nuclear receptor corepressor; mutation 5, Bruce Beutler
Synonyms: yuanxiao
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 14
Alteration at locus: Chemically Induced
Hr
Name: lysine demethylase and nuclear receptor corepressor
Synonyms: N, ba, rh, rh-bmh, bldy
Type: Gene
Species: Mouse
Chromosome: 14
Alteration at locus: Chemically Induced
NCBI: 15460
HGNC: HGNC:5172
Homologene: 3774

Additional Resources
IMPC
Google
Entrez
PubMed
IMSR
Gene Ontology
BioGPS
Gene Cloud
IGTC
Mouse Phenome DB
Mouse Mine
KOMP Phenotyping
Monarch
GeneCards
ClinGen
Genetic Alterations
ENU-induced 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 the Hr gene. 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.

Strain Description

Phenotype

Homozygous: Mice showed alopecia and wrinkled skin by postnatal day (P) 25.

Heterozygous: No signficant abnormal phenotype detected.

Mammalian Phenotype Terms
Allelic Composition: (Genetic Background: )
Strain GQC Summary
The MMRRC Centers have developed a Strain GQC pipeline using MiniMUGA array genotyping to provide additional information on strain backgrounds for MMRRC strains. For more information on whether data may be available, or to request genotyping for a strain of interest, please contact MMRRC_GeneticQC@med.unc.edu. Older strains may not have this information available.
Suggested Control Mice
Littermates of all relevant genotypes.

Research Applications

  • Models for Human Disease
    • Alopecia Universalis Congenita [OMIM: #203655]
    • Atrichia with popular lesions [OMIM: #209500]
    • Hypotrichosis 4 [OMIM: #146550]
  • Dermatology

Strain Origin

Primary Reference

Zhang Z, Dao D, Shi H, Sun L, Wang J, Wang Y, Murray AR, Beutler B. Record for yuanxiao. MUTAGENETIX, B. Beutler and colleagues, Center for the Genetics of Host Defense, UT Southwestern, Dallas, TX.

Strain Development
Original mutant was a C57BL/6J G3 ENU-induced mutant; all subsequent crosses to maintain strain were on C57BL/6J background only.


Disclaimer: If MMRRC Strain Genetic Quality Control (GQC; based on MiniMUGA genotyping and analysis) has been completed for this strain, the information might differ from the genetic background information provided by the submitter. MiniMUGA genetic analysis is done on a strain’s tissue samples taken when archived by or ordered from the assigned MMRRC Center.

Colony and Husbandry Information

Health Status Report

For more information about this colony's health status contact

Appearance

Coat Color
Black

Reproductive Statistics

Viability and Fertility: Female Male Comments
Homozygotes are viable: Yes Yes
Homozygotes are fertile: Yes Yes
Heterozygotes are fertile: Yes Yes
Age Reproductive Decline: Unknown Unknown

Order Request Information

Availability Level

The availability level for this product has not been determined.

Conditions of Distribution

Distribution of this strain requires submission of the MMRRC Conditions of Use (COU). A link to the COU web form will be provided via email after an order has been placed; the form should be completed then or the email forwarded to your institutional official for completion.

The donor or their institution limits the distribution to non-profit institutions only.

Fees

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