Strain Name:

B6(C3)-B3gnt1m1Ddg/J

Stock Number:

022018

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Common Names: C3.B6-B3gnt1m1Ddg/J;    
This model of dystroglycanopathy carries an ENU-generated methionine to threonine (M155T) amino acid substitution in the exon 1 catalytic domain of B3gnt1 (UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1). Homozygotes show neuronal migration defects and develop a mild form of muscular dystrophy of variable penetrance.

Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Type Chemically Induced Mutation; Congenic; Mutant Strain;
Additional information on Genetically Engineered and Mutant Mice.
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Additional information on Congenic nomenclature.
Mating SystemHeterozygote x Heterozygote         (Female x Male)   29-APR-13
Specieslaboratory mouse
 
Donating Investigator David D. Ginty,   Harvard Medical School

Description
B3gnt1 (UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1) is required for the glycosylation of dystroglycan and the regulation of axonal guidance during embryonic development.

This strain carries an ENU-generated T to C transversion in exon 1 of the gene, creating a methionine to threonine (M155T) amino acid substitution in the catalytic domain. Homozygotes demonstrate severe neuronal migration defects commonly associated with defective dystroglycan function. The longitudinal axonal tracts in the hindbrain of E11.5-12.5 embryos develop abnormally. Projections emanating from the midbrain and cranial nerves towards the cervical levels of the spinal cord are truncated and defasciculated at the level of the vagal complex. Mutant protein is not associated with the Golgi, but is detected in the endoplasmic reticulum (ER), suggesting a misfolding or ER retention defect.

Unlike knockout animals, hypomorphic ENU mutant homozygotes are born at predicted Mendelian ratios. They develop a mild form of muscular dystrophy of variable penetrance. The phenotype isn't observed until adulthood and is manifested as a hunched posture with atrophic musculature. Homozygous males appear to be infertile and females have reduced fertility. Heterozygotes show normal productivity.

Development
ENU-mutagenized C57BL/6 males were crossed with C3H/He females as part of a three-generation, forward genetic screen for embryos with axonal guidance and branching defects. Line 1157 mice carry a T to C transversion in exon 1 of B3gnt1 which resulted in a methionine to threonine (M155T) amino acid substitution in the catalytic domain. This strain was backcrossed to C3H/HeJ for approximately 2 generations for mapping purposes, then backcrossed to C57BL/6 for approximately 5 generations by the donating lab.

Control Information

  Control
   Wild-type from the colony
   000635 C3H/HeOuJ
 
  Considerations for Choosing Controls

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested.
Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies), Type A, 13; MDDGA13   (B3GNT1)
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

The following phenotype information is associated with a similar, but not exact match to this JAX® Mice strain.

B3gnt1m1Ddg/B3gnt1m1Ddg

        involves: C3H/He * C57BL/6
  • nervous system phenotype
  • abnormal axon fasciculation
    • axons emanating from the midbrain and cranial nerves are truncated and defasciculated at the level of the vagal complex compared with wild-type mice   (MGI Ref ID J:194150)
    • mice exhibit defects (highly defasciculated, patchy and discontinuous) in the formation of the dorsal funiculus by the central projections of the dorsal root ganglia sensory neurons compared with wild-type mice   (MGI Ref ID J:194150)
  • abnormal axon guidance
    • axons emanating from the midbrain and cranial nerves are truncated and defasciculated at the level of the vagal complex compared with wild-type mice   (MGI Ref ID J:194150)
  • abnormal nervous system tract morphology
    • axons emanating from the midbrain and cranial nerves are truncated and defasciculated at the level of the vagal complex compared with wild-type mice   (MGI Ref ID J:194150)
  • abnormal spinal cord dorsal column morphology
    • mice exhibit defects (highly defasciculated, patchy and discontinuous) in the formation of the dorsal funiculus by the central projections of the dorsal root ganglia sensory neurons compared with wild-type mice   (MGI Ref ID J:194150)
  • muscle phenotype
  • dystrophic muscle
    • mild with variable penetrance   (MGI Ref ID J:194150)
  • cellular phenotype
  • abnormal axon fasciculation
    • axons emanating from the midbrain and cranial nerves are truncated and defasciculated at the level of the vagal complex compared with wild-type mice   (MGI Ref ID J:194150)
    • mice exhibit defects (highly defasciculated, patchy and discontinuous) in the formation of the dorsal funiculus by the central projections of the dorsal root ganglia sensory neurons compared with wild-type mice   (MGI Ref ID J:194150)
  • abnormal axon guidance
    • axons emanating from the midbrain and cranial nerves are truncated and defasciculated at the level of the vagal complex compared with wild-type mice   (MGI Ref ID J:194150)
View Research Applications

Research Applications
This mouse can be used to support research in many areas including:

Neurobiology Research
Muscular Dystrophy
      Dystroglycanopathy
Neurodevelopmental Defects

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol B3gnt1m1Ddg
Allele Name mutation 1, David D Ginty
Allele Type Chemically induced (ENU) (Hypomorph)
Common Name(s) B3gnt1M155T; Line 1157;
Strain of OriginC57BL/6
Gene Symbol and Name B3gnt1, UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1
Chromosome 19
Gene Common Name(s) 1500032M01Rik; B3GN-T1; B3GNT6; B3gnt6; BETA3GNT1; BETA3GNTI; MDDGA13; RIKEN cDNA 1500032M01 gene; UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6; iGAT; iGNT;
Molecular Note ENU induced a T to C transversion in exon 1 in Line 1157 that results in a methionine to threonine (M155T) amino acid substitution in the catalytic domain. This allele is hypomorphic. [MGI Ref ID J:194150]

Genotyping

Genotyping Information

Genotyping Protocols

B3gnt1m1DdgEnd Point, End Point Analysis


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Wright KM; Lyon KA; Leung H; Leahy DJ; Ma L; Ginty DD. 2012. Dystroglycan organizes axon guidance cue localization and axonal pathfinding. Neuron 76(5):931-44. [PubMed: 23217742]  [MGI Ref ID J:194150]

Health & husbandry

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

Colony Maintenance

Breeding & HusbandryHomozygous males appear to be infertile and females have reduced fertility. Heterozygotes show normal productivity.
Mating SystemHeterozygote x Heterozygote         (Female x Male)   29-APR-13

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


Pricing for USA, Canada and Mexico shipping destinations View International Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $2140.00
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.

    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

Pricing for International shipping destinations View USA Canada and Mexico Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $2782.00
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.

    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Control Information

  Control
   Wild-type from the colony
   000635 C3H/HeOuJ
 
  Considerations for Choosing Controls
  Control Pricing Information for Genetically Engineered Mutant Strains.
 

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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.
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