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CRISPR/Cas9 genome editing was used to introduce the Y155Y and L156R point mutations (TACCTT > TATCGT) into Glb1. Murine L156R is a missense mutation corresponding to the clinical L155R mutation (PMID:17309651). Mutations in Glb1 are associated with GM1-gangliosidosis and mucopolysaccharidosis, type IVB (Morquio).
HGVS nomenclature:
The targeted Glb1 gene encodes an enzyme that catalyzes terminal beta-linked galactose residue hydrolysis from gangliosides, glycoproteins, and glycosaminoglycans. Mutations in this gene have been associated with GM1-gangliosidosis and Mucopolysaccharidosis type IVB (Morquio). Murine L156R is a missense mutation corresponding to the clinical L155R mutation. Homozygous GLB1 knock-in mice develop mild tremors beginning around 10 weeks of age, however, this does not progress to a more severe phenotype. Alterations in body weight or other neurological phenotypes are not observed. Homozygotes exhibit a substantial reduction in β-galactosidase activity in the brain and spleen; heterozygotes exhibit an intermediate β-galactosidase phenotype. This strain may be useful in studies of GM1-gangliosidosis.
Santamaria R, Blanco M, Chabás A, Grinberg D, Vilageliu L. Identification of14 novel GLB1 mutations, including five deletions, in 19 patients with GM1gangliosidosis from South America. Clin Genet. 2007 Mar;71(3):273-9. (Medline PMID: 17309651)
Cryo-recovered strains distributed by the MMRRC at JAX are shipped to the customer from the Pathogen & Opportunistic-Free Animal Room G200 - see https://www.jax.org/jax-mice-and-services/customer-support/customer-service/animal-health/health-status-reports.
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 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.
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.