Strain Name:
B10.129X1(B6)-Cmahtm1Avrk Dmdmdx/DuaMmmh
Stock Number:
050926-MU
Citation ID:
RRID:MMRRC_050926-MU
Other Names:
CMAH/Mdx

Strain Information

Cmahtm1Avrk
Name: cytidine monophospho-N-acetylneuraminic acid hydroxylase; targeted mutation 1, Ajit Varki
Synonyms: Cmah-
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 13
Alteration at locus: Knockout
Cmah
Name: cytidine monophospho-N-acetylneuraminic acid hydroxylase
Synonyms: CMP-NeuAc hydroxylase
Type: Gene
Species: Mouse
Chromosome: 13
Alteration at locus: Knockout
NCBI: 12763
HGNC: HGNC:2098
Homologene: 7269
Dmdmdx
Name: dystrophin, muscular dystrophy; X linked muscular dystrophy
Synonyms: pke, mdx, pyruvate kinase expression
Type: Allele
Species: Mus musculus (mouse)
Chromosome: X
Alteration at locus: Spontaneous Mutation
Dmd
Name: dystrophin, muscular dystrophy
Synonyms: Duchenne muscular dystrophy, mdx, pke, X-linked muscular dystrophy, Dp427, Dp71, dys
Type: Gene
Species: Mus musculus (mouse)
Chromosome: X
Alteration at locus: Spontaneous Mutation
NCBI: 13405
HGNC: HGNC:2928
Homologene: 20856
Genetic Alterations
A targeting vector was designed to insert a loxP site upstream of exon 6, and a loxP-flanked neomycin resistance (neo) cassette downstream of exon 6 of the cytidine monophospho-N-acetylneuraminic acid hydroxylase (Cmah) gene. The construct was electroporated into 129/SvJ-derived embryonic stem (ES) cells. Correctly targeted ES cells were transiently transfected with a Cre-expressing plasmid to delete the neo cassette. Resulting ES cells contained multiple gene rearrangements; intact floxed-exon 6, intact floxed-neo cassette, or excision of both exon 6 and the neo cassette. Correctly targeted ES cells, lacking both exon 6 and the neo cassette, were injected into blastocysts and resulting chimeric males were bred with C57BL/6 females. The offspring were crossed to Dmdmdx males on the C57BL/10ScSn background.
Genotype Determination
ES Cell Line
Not specified
Phenotype
This mouse model contains mutations in the cytidine monophospho-N-acetylneuraminic acid hydroxylase (CMAH) gene as well as dystrophin exon 23 resulting in muscular dystrophy (Mdx). CMAH catalyses the biosynthesis of the sialic acid N-glycolylneuraminic acid (Neu5Gc). These mice do not express Neu5Gc or the dystrophin protein.
Mammalian Phenotype Terms
Allelic Composition: Dmdmdx/Dmdmdx (Genetic Background: C57BL/10ScSn )

Allelic Composition: Dmdmdx/Dmdmdx (Genetic Background: C57BL/10ScSn-Dmdmdx/J )

Allelic Composition: Dmdmdx/Dmdmdx (Genetic Background: C57BL/10ScSnJ )

Allelic Composition: Dmdmdx/Dmdmdx (Genetic Background: involves: C57BL/10ScSn )

Allelic Composition: Dmdmdx/Dmdmdx (Genetic Background: involves: C57BL/10ScSn * CB17 )

Allelic Composition: Dmdmdx/Dmd+ (Genetic Background: involves: 129S4/SvJae * C57BL/10ScSn )

Allelic Composition: Dmdmdx/Dmd+ (Genetic Background: involves: C57BL/10ScSn )

MeSH Terms
  • Acetylation
  • Acoustic Stimulation
  • Animals
  • Biology
  • Chromatography, High Pressure Liquid
  • Cohort Studies
  • DNA/genetics
  • Ear, Inner/abnormalities
  • Evolution, Molecular
  • Female
  • Gene Deletion
  • Heterozygote
  • Hominidae/genetics
  • Humans
  • Immunohistochemistry
  • Male
  • Mice
  • Mice, Knockout
  • Mice, Transgenic
  • Neuraminic Acids/metabolism
  • Phenylenediamines/pharmacology
  • Polymerase Chain Reaction
  • Reflex, Startle/genetics
  • Skin/injuries
  • Time Factors
  • Wound Healing/physiology
  • Crosses, Genetic
  • Genetic Linkage
  • Mice, Inbred C57BL
  • Mice, Mutant Strains
  • Muscles/enzymology
  • Muscular Dystrophy, Animal/enzymology
  • Muscular Dystrophy, Animal/genetics
  • Muscular Dystrophy, Animal/pathology
  • Mutation
  • Pyruvate Kinase/genetics
  • Pyruvate Kinase/metabolism
  • X Chromosome
Strain Development
This strain was developed by crossing the B6;129X1-Cmahtm1Avrk mice with males carrying the Dmdmdx allele (N5 on C57BL/10ScSn). At each generation, mice positive for the Cmah mutation we crossed again with C57BL/10-Dmdmdx mice for more than 6 generations.
Suggested Control Mice
Mice carrying Cmahtm1Avrkon C57BL/10 background (MMRRC:50928)
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@missouri.edu. Older strains may not have this information.
  • Models for Human Disease
Donor
Ashok Kulkarni, National Institute of Dental and Craniofacial Research, National Institutes of Health.
Dongsheng Duan, Ph.D., University of Missouri.
Karen J. Moore, Ph.D.
Primary Reference

Hedlund M, Tangvoranuntakul P, Takematsu H, Long JM, Housley GD, Kozutsumi Y, Suzuki A, Wynshaw-Boris A, Ryan AF, Gallo RL, Varki N, Varki A.N-glycolylneuraminic acid deficiency in mice: implications for human biology and evolution. Mol Cell Biol. 2007 Jun;27(12):4340-6. Epub 2007 Apr 9. (Medline PMID: 17420276)

Bulfield G, Siller WG, Wight PA, Moore KJ. X chromosome-linked musculardystrophy (mdx) in the mouse. Proc Natl Acad Sci U S A. 1984 Feb;81(4):1189-92.(Medline PMID: 6583703)

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@missouri.edu.
Coat Color
Black
Eye
Black
MMRRC Breeding System
Backcross
Generation
N6+ (C57BL/10-Dmdmdx)
Overall Breeding Performance
Excellent
NOTE: "Hemizygote" as used here refers to males carrying a mutation on the X Chromosome or mice of either sex carrying an inserted transgene with no homologous allele on the other chromosome.
Viability and Fertility: Female Male Comments
Homozygotes are viable: Yes Yes
Homozygotes are fertile: Yes Yes
Hetero/Hemizygotes are fertile: N/A N/A
Age Reproductive Decline: Undetermined Undetermined
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@missouri.edu for more information.

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

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.

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
050926-MU-SPERM Cryo-preserved spermatozoa $437.00 / Non-Profit Aliquot Approximate quantity3
050926-MU-RESUS Litter recovered from cryo-archive $2,624.00 / Non-Profit Litter Recovered litter4; additional fees for any special requests.
Cryopreserved material may be available upon request, please inquire to mmrrc@missouri.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.