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Strain Name:
C57BL/6-Adamtsl2tm1Mtek/Mmmh
Stock Number:
076044-MU
Citation ID:
RRID:MMRRC_076044-MU
Other Names:
ADAMTSL2 R61H

Strain Information

QUALITY CONTROL OF C57BL/6-Adamtsl2tm1Mtek/Mmmh  |  University of Missouri
Last Updated:
Strain Data and Information Information by Submitter Assessed by MMRRC1,2
Published Provided
Allele-specific genotype3YES
Genetic backgroundYES
Viability of genotypes available for distributionYES
Specific Pathogen- StatusYES
Recoverability of cryopreserved sperm/embryos4 YES
Gene or allele sequence3 n.d.
Gene or allele expression3n.d.
Gene or allele function3n.d.
Observable and/or measurable phenotypesYES
Fertility of genotypes available for distributionYES
Fecundity/breeding performance YES

1 When indicated as "assessed by MMRRC" ("YES"), please note that the information presented on this strain is to the best of our knowledge correct and up-to-date at the the MMRRC Distribution Center assigned to maintain and distribute this strain. This information is subject to change due to breeding, maintenance, and other actions. Please direct any questions on the information presented in this table to the MMRRC Distribution Center.

2 If an assessment has not been performed by the MMRRC (as indicated by "NO"), investigators may request specific 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.

Adamtsl2tm1Mtek
Name: ADAMTS-like 2; targeted mutation 1, Mustafa Tekin
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 2
Alteration at locus: Knock-In
Adamtsl2
Name: ADAMTS-like 2
Synonyms: A930008K15Rik, stb
Type: Gene
Species: Mouse
Chromosome: 2
NCBI: 77794
Homologene: 8798
Genetic Alterations
A G to A change at position 182 (c.G182A) resulting in an arginine to histidine substitution at amino acid 61 (p.R61H) in exon 3 of the Adamtsl2 locus.


ES Cell Line
C57Bl/6J-693 derived from C57BL/6J
Phenotype
Homozygous mice carrying the Adamtsl2 missense allele (p.R61H variant) exhibit mild postnatal growth impairment, with reduced weight gain emerging after 2-3 months of age. Homozygous mice also exhibit skeletal abnormalities including a more rounded cranium, shortened femur length, and reduced length of proximal phalanges. No significant cardiac pathology is observed. Heterozygous mice are normal and comparable to wild-type mice.

Functionally, the mutation impairs ADAMTSL2 secretion, reducing its availability in the extracellular matrix, which is likely the primary driver of the phenotype.
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.
  • Growth and Development
  • Abnormal postnatal growth/weight/body size (MP:0002089)
  • Skeletal Development
  • Abnormal skeleton morphology (MP:0000055)
  • Bone Growth and Morphogenesis
  • Abnormal long bone morphology (MP:0003723)
  • Craniofacial Development
  • Abnormal craniofacial morphology (MP:0000428)
  • Limb and Digit Development
  • Abnormal digit morphology (MP:0002110)
  • Extracellular Matrix Biology
Submitter
Mustafa Tekin, M.D., University of Miami, Miller School of Medicine.
Primary Reference

Camarena V, Williams MM, Morales AA, Zafeer MF, Kilic OV, Kamiar A, Abad C, Rasmussen MA, Briski LM, Peart L, Bademci G, Barbouth DS, Smithson S, Wang G, Shehadeh LA, Walz K, Tekin M. ADAMTSL2 mutations determine the phenotypic severity in geleophysic dysplasia. JCI Insight. 2024 Feb 1;9(5):e174417. doi: 10.1172/jci.insight.174417. (Medline PMCID: 10972594)

Strain Development
The Adamtsl2 p.R61H missense variant was identified in a geleophysic dysplasia 1 patient who is compound heterozygous for two variants, p.R61H and p.A165T. This variant was generated using embryonic stem (ES) cell–mediated knock-in technology on a C57BL/6J background. Targeting vectors containing the desired mutation within the homology arms were electroporated into ES cells, and correctly targeted clones were selected by drug resistance and screened by PCR, followed by confirmation by Southern blot analysis. Targeted ES cell clone 2B9 was injected into C57BL/6 albino blastocysts, which were implanted into CD-1 pseudopregnant females to generate chimeric founders. Germline transmission was confirmed by breeding chimeras with C57BL/6 females and genotyping the offspring.

In addition, Adamtsl2 knockout mice were obtained from the Mutant Mouse Resource and Research Center (MMRRC: 046490-UCD, C57BL/6N-Adamtsl2tm1a(KOMP)Wtsi/MbpMmucd). Crosses between knock-in and knockout lines were performed to generate compound heterozygous, homozygous, hemizygous, and heterozygous animals, enabling modeling of patient genotypes and detailed genotype–phenotype analyses.

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

Related Strain: C57BL/6-Adamtsl2tm2Mtek/Mmmh (RRID:MMRRC_076045-MU)

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
Random intra-strain mating
Generation
N/A
Overall Breeding Performance
Good
Viability and Fertility: Female Male Comments
Homozygotes are viable: Yes Yes
Homozygotes are fertile: Reduced Reduced
Heterozygotes are fertile: Yes Yes
Age Reproductive Decline: Undetermined Undetermined
Bred to Homozygosity
Yes
Average litter size
7 to 9
Recommended wean age
3 Weeks
Average Pups Weaned
7 to 9

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 Tiffany-Ashley Disney.

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.

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

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
076044-MU-SPERM Cryo-preserved spermatozoa $546.25 / $1,021.25
Non-Profit / For-Profit
Aliquot Approximate quantity3
076044-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.

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.