Strain Name:
C57BL/6J-Glb1em2Lutzy/Mmjax
Stock Number:
065352-JAX
Citation ID:
RRID:MMRRC_065352-JAX
Other Names:
C57BL/6J-Glb1, Glb1 Y155Y L156R KI, C57BL/6J-Glb1/J, C57BL/6J-Glb1em2(Y155Y,L156R)Lutzy/J

Gene Information

Glb1em2Lutzy
Name: galactosidase, beta 1; endonuclease-mediated mutation 2, Cathy Lutz
Synonyms: Glb1 Y155Y L156R
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 9
Alteration at locus: CRISPR
Glb1
Name: galactosidase, beta 1
Synonyms: Bgs, Bge, Bgt, Bgl, Bgl-t, Bgl-s, Bgl-e, C130097A14Rik
Type: Gene
Species: Mus musculus (mouse)
Chromosome: 9
Alteration at locus: CRISPR
NCBI: 12091
VEGA: 9
HGNC: HGNC:4298
Homologene: 47922
Genetic Alterations

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:

  • Genbank RefSeq - mRNA: NM_009752.2
  • Genbank RefSeq, protein: NP_033882.1
  • Variant, nucleic acid level: c.465_467delinsTCG
  • Variant, amino acid level, predicted: p.(Leu156Arg)
  • Check this variant: LUMC Mutalyzer
Genotype Determination
Phenotype

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.

MeSH Terms
  • Adult
  • Alleles
  • Argentina
  • Base Sequence
  • Child, Preschool
  • DNA Mutational Analysis
  • Exons
  • Gangliosidosis, GM1/diagnosis
  • Gangliosidosis, GM1/genetics
  • Haplotypes
  • Humans
  • Infant
  • Molecular Sequence Data
  • Mutation
  • Sequence Deletion
  • beta-Galactosidase/genetics
Strain Development
Signal guide RNA and donor oligonucleotide designed to introduce the Y155Y and L156R point mutations (TACCTT > TATCGT) in the Glb1 gene and the cas9 nuclease were introduced into the cytoplasm C57BL6/J-derived fertilized eggs with well-recognized pronuclei. Correctly targeted embryos were transferred to pseudopregnant females. Correctly targeted pups were identified by sequencing and PCR and further bred to C57BL6/J to (JAX Strain #000664) develop the colony.
Suggested Control Mice
wild-type littermate and C57BL/6J
  • Models for Human Disease
Donor
Cat Lutz, Ph.D., The Jackson Laboratory.
Primary Reference

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)

Colony and Husbandry Information

For more information about this colony's health status contact csmmrrc@jax.org
Coat Color
Black
Eye
Black
Other
This was funded via MMRRC SOM Account AU-4024410
MMRRC Breeding System
Sib-mating
Generation
N2 (C57BL/6J), coisogenic on C57BL/6J, maintained as a HET x HET mating
Overall Breeding Performance
Good
Viability and Fertility: Female Male Comments
Homozygotes are viable: Yes Yes
Homozygotes are fertile: Undetermined Undetermined
Heterozygotes are fertile: Yes Yes
Age Reproductive Decline: Undetermined Undetermined
Average litter size
Undetermined
Recommended wean age
unknown
Average Pups Weaned
Undetermined

Order Request Information

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.

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
065352-JAX-HOM-F
065352-JAX-HOM-M
Homozygous Female
Homozygous Male
$218.00 / $218.00
Non-Profit / For-Profit
Per Mouse The csmmrrc@jax.org may assess additional fees for any special requests (e.g., specific age or weight of mice, etc.).
065352-JAX-SPERM Cryo-preserved spermatozoa $437.00 / $437.00
Non-Profit / For-Profit
Aliquot Approximate quantity3
Cryopreserved material may be available upon request, please inquire to csmmrrc@jax.org 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.