Register New MMRRC Account
Reset Password
Register for New Mouse Models
Click Here for Additional Contact Information
Availability & Fees Order this Strain
Reelin-COLBOS knock-in mice express an H3448R (histidine to arginine) amino acid substitution in the Reln (reelin) locus. The H3448R mutation models the human H3447R variant, and serves as a gain of function mutation that provides resistance to Autosomal dominant Alzheimer's disease (ADAD). This strain may be useful for studies of Alzheimer's disease.
Reln encodes for the glycoprotein, reelin, that is secreted by specific cell types in the developing brain. Reelin has been implicated in cell-cell interactions to activate neuronal migration and cortical laminar formation.
Reelin-COLBOS (COLBOS – Columbia-Boston biomarker research study) knock-in mice express an H3448R (histidine to arginine) amino acid substitution in the C-terminal of Reln. The mutation corresponds to a rare human H3447R variant found in a male patient with Autosomal dominant Alzheimer’s disease (ADAD). The patient, although carrying the PSEN1-E280A mutation, had a limited entorhinal Tau tangle burden. Mice homozygous for the mutation are viable and fertile, with no overt phenotype. The mutation creates a gain of function hypermorph that has enhanced phosphorylation of Dab1 in homozygous males; activation of DAB1 reduces human Tau phosphorylation. Reelin-COLBOS homozygous males also have a mild increase in cerebellar neurons. When combined with a human tauopathy mouse model (Tg(Prnp-MAPT*P301L)JNPL3Hlmc), males exhibit a significant reduction of Tau phosphorylation in the hippocampus and medulla oblongata, as well as a reduction in the limb-clasping response.
Lopera F, Marino C, Chandrahas AS, O'Hare M, Villalba-Moreno ND, Aguillon D, Baena A, Sanchez JS, Vila-Castelar C, Ramirez Gomez L, Chmielewska N, Oliveira GM, Littau JL, Hartmann K, Park K, Krasemann S, Glatzel M, Schoemaker D, Gonzalez-Buendia L, Delgado-Tirado S, Arevalo-Alquichire S, Saez-Torres KL, Amarnani D, Kim LA, Mazzarino RC, Gordon H, Bocanegra Y, Villegas A, Gai X, Bootwalla M, Ji J, Shen L, Kosik KS, Su Y, Chen Y, Schultz A, Sperling RA, Johnson K, Reiman EM, Sepulveda-Falla D, Arboleda-Velasquez JF, Quiroz YT. Resilience to autosomal dominant Alzheimer's disease in a Reelin-COLBOS heterozygous man. Nat Med. 2023 May;29(5):1243-1252. doi: 10.1038/s41591-023-02318-3. Epub 2023 May 15. (Medline PMID: 37188781)
Limited quantities of breeder mice (up to 2 males and 2 females or 4 mice) per investigator per month are available from a live colony, usually available to ship in under 12 weeks. Larger quantities may be available, please contact the distributing center directly at csmmrrc@jax.org for more details.
Cryopreserved material may be available upon request, please inquire to csmmrrc@jax.org 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.
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.
We use cookies to improve your experience, personalize content, and analyze traffic. By using this site, you agree to our use of cookies. For more details, please visit our Privacy Policy.