Strain Name:
C.129S1(Cg)-Ryr1tm1.1Inp/Mmucd
Stock Number:
042036-UCD
Citation ID:
RRID:MMRRC_042036-UCD
Other Names:
BalbC-RYR1T4826I, T4826I MH-BalbC

Strain Information

Ryr1tm1.1Inp
Name: ryanodine receptor 1, skeletal muscle; targeted mutation 1.1, Isaac N Pessah
Synonyms: T4826I-RYR1
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 7
Alteration at locus: Targeted Mutation
Ryr1
Name: ryanodine receptor 1, skeletal muscle
Synonyms: calcium release channel isoform 1, Ryr, skrr
Type: Gene
Species: Mouse
Chromosome: 7
Alteration at locus: Targeted Mutation
NCBI: 20190
Homologene: 68069
Genetic Alterations
This strain carries an Ryr1 variant at codon 4823 that is predicted to introduce a single amino acid exchange homologous to the human T4826I substitution (NM_000540.2:p.Thr4826Ile).

HGVS nomenclature:
  • NCBI RefSeq - mRNA: NM_009109.2
  • NCBI RefSeq, protein: NP_033135.2
  • Variant, nucleic acid level: c.14468C>T
  • Variant, amino acid level, predicted: p.Thr4823Ile
    Check this variant: LUMC Mutalyzer
Genotype Determination
ES Cell Line
W9.5/W95 derived from 129S1/Sv-Oca2+ Tyr+ Kitl+
Phenotype

Homozygous: Homozygous mice survive, but are more susceptible to heat and volatile anesthetics than heterozygous mice

Heterozygous: Heterozygous mice have a less severe response to heat and volatile anesthetics.

Mammalian Phenotype Terms
Allelic Composition: (Genetic Background: )

MeSH Terms
  • Amino Acid Substitution
  • Anesthetics, Inhalation/administration & dosage
  • Animals
  • Body Temperature/drug effects
  • Body Temperature/genetics
  • Body Temperature/physiology
  • Female
  • Gene Expression
  • Genetic Predisposition to Disease/genetics
  • Genotype
  • Halothane/administration & dosage
  • Hot Temperature
  • Humans
  • Male
  • Malignant Hyperthermia/genetics
  • Membrane Potentials
  • Mice
  • Mice, 129 Strain
  • Mice, Inbred C57BL
  • Mice, Transgenic
  • Microscopy, Electron
  • Muscle Fibers, Skeletal/metabolism
  • Muscle Fibers, Skeletal/physiology
  • Muscle, Skeletal/metabolism
  • Muscle, Skeletal/pathology
  • Mutation
  • Ryanodine Receptor Calcium Release Channel/genetics
  • Ryanodine Receptor Calcium Release Channel/physiology
  • Sarcolemma/metabolism
  • Sarcolemma/ultrastructure
  • Sex Factors
  • Calcium/metabolism
  • Gene Dosage
  • Heterozygote
  • Homozygote
  • Malignant Hyperthermia/metabolism
  • Mutation, Missense
  • Protein Structure, Tertiary
  • Ryanodine Receptor Calcium Release Channel/metabolism
  • Sarcoplasmic Reticulum/genetics
  • Sarcoplasmic Reticulum/metabolism
Strain Development
The line was developed with W9.5 ES cells (129S1/Sv-Oca2+ Tyr+ Kitl+). Chimeras were bred to C57BL/6 and Cre'ed with 129-Alpltm1(cre)Nagy/J (JAX Strain #008569), which has a 129S1.Cg background (minor contributions of 129X1). Subsequent backcrossing to C57BL/6 and cryoarchiving (approx. 80% C57BL/6). At this point, three different background lines were developed, C57BL/6, BALB/c, and SJL/J. The BALB/c line described here is in its 13th backcross generation (approx. 99.6% BALB/c per SNP analysis).
Suggested Control Mice
Wild-type littermates
MMRRC Genetic QC Summary
The MMRRC Centers have developed a genetic QC pipeline using MiniMUGA array genotyping to provide additional information on strain backgrounds for MMRRC congenic and inbred strains. For more information on when data may be available, or to request genotyping for a strain of interest, please contact mmrrc@ucdavis.edu. Older strains may not have this information.
  • Cell Biology
  • Metabolism
  • Models for Human Disease
  • Research Tools
Donor
Paul Denny Allen, M.D., Harvard Medical School, Brigham and Women's Hospital.
Isaac Pessah, Ph.D., University of California, Davis.
Primary Reference

Yuen B, Boncompagni S, Feng W, Yang T, Lopez JR, Matthaei KI, Goth SR, Protasi F, Franzini-Armstrong C, Allen PD, Pessah IN. Mice expressing T4826I-RYR1 are viable but exhibit sex- and genotype-dependent susceptibility to malignant hyperthermia and muscle damage. FASEB J. 2012 Mar;26(3):1311-22. Epub 2011 Nov 30. (Medline PMID: 22131268)

Barrientos GC, Feng W, Truong K, Matthaei KI, Yang T, Allen PD, Lopez JR, Pessah IN. Gene dose influences cellular and calcium channel dysregulation in heterozygous and homozygous T4826I-RYR1 malignant hyperthermia-susceptible muscle. J Biol Chem. 2012 Jan 20;287(4):2863-76. Epub 2011 Dec 2. (Medline PMID: 22139840)

Colony and Husbandry Information

Colony Surveillance Program and Current Health Reports

Mice recovered from a cryo-archive will have health surveillance performed on recipient females. Health reports will be provided prior to shipment. If you require additional health status information, please email mmrrc@ucdavis.edu.
Coat Color
White
Eye
Pink
MMRRC Breeding System
Backcross
Generation
N13 (BALB/c)
Overall Breeding Performance
Excellent
Viability and Fertility: Female Male Comments
Homozygotes are viable: Yes Yes
Homozygotes are fertile: Yes Yes
Heterozygotes are fertile: Yes Yes
Age Reproductive Decline: 6 to 8 months 8 to 12 months
Bred to Homozygosity
Yes
Average litter size
4-6
Recommended wean age
3 weeks
Average Pups Weaned
4-6

Order Request Information

Limited quantities of breeder mice (recovered litter) are available from a cryoarchive; recovered litter usually available to ship in 3 to 4 months.

Cryopreserved material may be available upon request, please inquire to mmrrc@ucdavis.edu for more information.

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.

Additional charges may apply for any special requests. Shipping costs are in addition to the basic distribution/resuscitation fees. Information on shipping costs and any additional charges will be provided by the supplying MMRRC facility.

Click button to Request this one strain. (Use the MMRRC Catalog Search to request more than one strain.)
MMRRC Item # Description Distribution Fee / Unit (US $)
*Shipping & Handling not included*
Units Notes
042036-UCD-RESUS Litter recovered from cryo-archive $4,044.00 / Non-Profit Litter Recovered litter4; additional fees for any special requests.
Cryopreserved material may be available upon request, please inquire to mmrrc@ucdavis.edu for more information.

1 The distribution fee covers the expense of rederiving mice from a live mouse; you will receive the resulting litter. The litter will contain at minimum one mutant carrier; the actual number of animals and the gender and genotype ratios will vary. (Typically, multiple breeder pairs can be established from the recovered litter.) Prior to shipment, the MMRRC will provide information about the animals recovered. If you anticipate or find that you need to request specific genotypes, genders or quantities of mice in excess of what is likely from a resuscitated litter, you may discuss available options and pricing with the supplying MMRRC facility.

2 An aliquot contains a sufficient number of embryos (in one or more vials or straws and based on the transfer success rate of the MMRRC facility) to transfer into one to three recipients. The MMRRC makes no guarantee concerning embryo transfer success experienced in the recipient investigator's laboratory. Neither gender nor genotype ratios are guaranteed.

3 An aliquot is one straw or vial with sufficient sperm to recover at least one litter of mice, as per provided protocols, when performed at the MMRRC facility. The MMRRC makes no guarantee concerning the success of these procedures when performed outside the MMRRC facilities.

4 The distribution fee covers the expense of resuscitating mice from the cryo-archive; you will receive the resulting litter. The litter will contain at minimum one mutant carrier; the actual number of animals and the gender and genotype ratios will vary. (Typically, multiple breeder pairs can be established from the recovered litter.) Prior to shipment, the MMRRC will provide information about the animals recovered. If you anticipate or find that you need to request specific genotypes, genders or quantities of mice in excess of what is likely from a resuscitated litter, you may discuss available options and pricing with the supplying MMRRC facility.

To request material from the MMRRC: Please fill out our on-line request form (accessible from the catalog search results page, or click the Request this Strain button in the fees section). If you have questions or need assistance completing this form, you may call Customer Service at (800) 910-2291 (in USA or Canada) or (530) 757-5710 (international calls). Before you call, please have with you: the MMRRC item number, quantity needed, Bill-to and Ship-to contact information.