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Strain Name:
B6.Cg-Mab21l2em1Kglc/Mmmh
Stock Number:
071949-MU
Citation ID:
RRID:MMRRC_071949-MU
Other Names:
Mab21l2 R51C/+

Strain Information

QUALITY CONTROL OF B6.Cg-Mab21l2em1Kglc/Mmmh  |  University of Missouri
Last Updated:
Strain Data and Information Information by Submitter Assessed by MMRRC1,2
Published Provided
Allele-specific genotype3 n.d.
Genetic backgroundn.d.
Viability of genotypes available for distributionn.d.
Specific Pathogen- Status n.d.
Recoverability of cryopreserved sperm/embryos4 n.d.
Gene or allele sequence3n.d.
Gene or allele expression3n.d.
Gene or allele function3n.d.
Observable and/or measurable phenotypesn.d.
Fertility of genotypes available for distributionn.d.
Fecundity/breeding performance n.d.

1 When indicated as verified ("YES"), then please note that information presented is to the best of our knowledge correct and up-to-date at the time of verification at the MMRRC Distribution Center; however, this information is subject to change due to breeding, maintenance, and other actions on the mouse strain at the MMRRC Distribution Center; direct any questions on this table to the MMRRC Distribution Center for this mouse stain.

2 If verification has not been performed (as indicated by "NO"), investigators may request specific verification testing for a fee. Requests should be submitted directly to the MMRRC Distribution Center assigned to the management, archiving, and distribution of the strain. A full listing of available testing and analytical services is available at https://www.mmrrc.org/about/services.php.

3 This information may or may not apply to each individual engineered allele (e.g., Cre, FlpO) present in the strain.

4 Recovery refers to thawing, in vitro fertilization (IVF), and/or embryo culture leading to live offspring.

Mab21l2em1Kglc
Name: mab-21-like 2; endonuclease-mediated mutation 1, King L Chow
Synonyms: Mab21l2(R51C)
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 3
Alteration at locus: CRISPR
Genetic Alterations
This line was generated using CRISPR/Cas9 nickase technology to introduce the pathogenic R51C missense mutation into exon 2 of Mab21l2. The resulting allele produces an N-terminal amino acid substitution (Arg→Cys) known to cause severe oculo-skeletal malformations in humans.
ES Cell Line
Not applicable
Phenotype
Mab21l2 R51C/+ mice exhibit a severe, fully penetrant phenotype marked by bilateral anophthalmia and locomotor deficits resulting from early disruption of eye and skeletal development. Mutants lack eyes, with micro-CT showing absent eyeballs and only optic nerve–like remnants. Embryos fail to induce lens placodes, produce misoriented optic cups, and lack optic stalks, reflecting a failure in early optic vesicle differentiation. Skeletally, animals display shortened limbs, fusion of the humerus with the radius and the femur with the tibia, and absence of humeral deltoid tuberosities; histology shows delayed chondrocyte maturation and failed interzone formation leading to joint synostosis. Heterozygous males are sterile, and heterozygous females are fertile but exhibit poor maternal care. Overall, the strain recapitulates the core oculo-skeletal defects associated with the human MAB21L2 R51C mutation.
MeSH Terms
  • Animals
  • Disease Models, Animal
  • Eye Abnormalities/genetics
  • Eye Proteins/genetics
  • Intracellular Signaling Peptides and Proteins/genetics
  • Mice
  • Musculoskeletal Abnormalities/genetics
  • Mutation, Missense
  • Phenotype
  • Syndrome
Strain GQC Summary
Gene Specific Genotyping:

To request gene-specific and other genotyping services for a strain, please contact the distribution MMRRC Center for more information.

Background Genetic Quality:

The MMRRC has developed a Genetic Quality Control pipeline using the MiniMUGA array to provide additional information to identify and validate genetic backgrounds of MMRRC strains. For more information on whether genetic background data is available, please contact MMRRC_GeneticQC@med.unc.edu. Note: that MiniMUGA genetic background data is not available on all strains, but can be ordered if desired.

Suggested Control Mice
Littermates of all relevant genotypes.
  • Models for Human Disease
Submitter
King Chow, Ph.D., The Hong Kong University of Science and Technology.
Primary Reference

Tsang SW, Guo Y, Chan LH, Huang Y, Chow KL. Generation and characterization of pathogenic Mab21l2(R51C) mouse model. Genesis. 2018 Dec;56(11-12):e23261. doi: 10.1002/dvg.23261. Epub 2018 Nov 29. (Medline PMID: 30375740)

Strain Development
The Mab21l2R51C allele was generated using a CRISPR/Cas9(D10A) nickase approach in which paired sgRNAs and a single-stranded donor oligonucleotide carrying the R51C substitution were microinjected into fertilized CBA/B6 F1 zygotes. Homology-directed repair introduced the targeted missense mutation along with silent changes to prevent re-cutting. One heterozygous founder was identified by sequencing, and due to impaired mobility and infertility, sperm from this founder were used for IVF with C57BL/6J oocytes to establish the line. Mutant mice were subsequently backcrossed to C57BL/6J for multiple generations prior to characterization.


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

  • Use heterozygous females for breeding
  • Newborns from heterozygous females usually require foster dams due to poor maternal care. ICR fosters work well.

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
N > 10
Overall Breeding Performance
Poor
Viability and Fertility: Female Male Comments
Homozygotes are viable: Undetermined Undetermined
Homozygotes are fertile: Undetermined Undetermined
Heterozygotes are fertile: Yes Yes Heterozygous males are unable to breed due to the physical limitations caused by their phenotype. However, their sperm is viable and can be used for IVF.
Age Reproductive Decline: 10 to 12 months Less than 4 months
Bred to Homozygosity
No
Average litter size
4 to 6
Recommended wean age
4 Weeks
Average Pups Weaned
4 to 6

Order 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.

A Commercial License Agreement from the Submitter is required for for-profit entities to use this strain. For more information, please contact King Chow.

A Commercial License Agreement from the Submitter is required for for-profit entities to use this strain. For more information, please contact King Chow

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
071949-MU-RESUS Litter recovered from cryo-archive $2,624.00 / $5,340.00
Non-Profit / For-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.

Some MMRRC strains were submitted by the submitter as cryopreserved germplasm, and because these strains were not cryopreserved by the MMRRC, we have not assessed the quality, nor genotype, of this material. Our expertise in reviving mice from various qualities of frozen sperm and embryos, using methods like IVF and ICSI, gives us confidence in successful recoveries in most cases. However, due to the uncertain quality of these samples, we'll limit revival attempts to two per order. Additional attempts are available for a fee, on top of standard charges, if requested. It's important to note that some strains may lack the expected mutation, so we can't assure successful order fulfillment until we attempt to revive the strain.

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.