Strain Name:
C57BL/6J-Glb1em4Lutzy/Mmjax
Stock Number:
065435-JAX
Citation ID:
RRID:MMRRC_065435-JAX
Other Names:
C57BL/6J-Glb1em2Lutzy, Glb1<del7>

Gene Information

Glb1em4Lutzy
Name: galactosidase, beta 1; endonuclease-mediated mutation 4, Cathy Lutz
Synonyms: Glb1del7
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

Oligo-based CRISPR/Cas9 endonuclease-mediated genome editing of the Glb1 (galactosidase, beta 1) gene was used to introduce a 7-nt deletion in exon 5. The mutation results in a premature stop codon predicting a truncated protein/null allele.

HGVS nomenclature:
  • Genbank RefSeq - mRNA: NM_009752.2
  • Genbank RefSeq, protein: NP_033882.1
  • Variant, nucleic acid level: c.468_474del
  • Variant, amino acid level, predicted: p.Val157Trpfs*12
  • Check this variant: LUMC Mutalyzer.
    Note: The originally deleted sequence was provided as "CTTGTAG" at position c.466_472. However, HGVS guidelines prescribe notation as "TGTAGCT" at position c.468_474, based on the most 3’ possible position of the reference sequence ("3’ rule").
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). Mice homozygous for the mutation are viable and fertile. Approximately 50% of Glb1-deficient mice develop progressive tremors around 14-15 weeks of age. Body weights are initially higher than wild-type but decline significantly around 7-8 months of age. Motor coordination (as assessed by accelerating rotarod) is impaired, however, general activity in open field tests is unchanged from controls. Homozygotes exhibit a decline 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.

Strain Development
Single-guide RNA and donor oligonucleotide designed to introduce a 7-nucleotide deletion in exon 5 of 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 (JAX Strain #000664) to develop the colony.
Suggested Control Mice
C57BL/6J
  • Metabolism
  • Models for Human Disease
  • Neurobiology
Donor
Cat Lutz, Ph.D., The Jackson Laboratory.
Primary Reference
unpublished

Colony and Husbandry Information

For more information about this colony's health status contact csmmrrc@jax.org
Coat Color
Black
Eye
Black
MMRRC Breeding System
Backcross
Generation
N3 (C57BL/6J)
Overall Breeding Performance
Undetermined
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
3 Weeks
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
065435-JAX-HOM-F
065435-JAX-HOM-M
065435-JAX-HET-F
065435-JAX-HET-M
065435-JAX-WT-F
065435-JAX-WT-M
Homozygous Female
Homozygous Male
Heterozygous / Hemizygous Female
Heterozygous / Hemizygous Male
Wild Type Female
Wild Type 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.).
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.