Strain Name:

C3.B6-Ispdm1Ddg/J

Stock Number:

022019

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Mice carrying this ENU-generated mutant Ispd (isoprenoid synthase domain containing) allele express a truncated protein. Homozygous mutants have defective glycosylation of dystroglycan, resulting in a number of neurodevelopmental phenotypes.

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.
Visit our online Nomenclature tutorial.
Additional information on Congenic nomenclature.
Specieslaboratory mouse
GenerationN3pN1
Generation Definitions
 
Donating Investigator David D. Ginty,   Harvard Medical School

Description
Ispd (isoprenoid synthase domain containing) is required for the glycosylation of dystroglycan and the regulation of axonal guidance during embryonic development.

This strain carries an ENU-generated T to A mutation in exon 1 of the gene that converts leucine 79 to a premature stop codon (L79*), creating a truncation in the expressed protein. Homozygous mutants have defective glycosylation of dystroglycan, resulting in a number of neurodevelopmental phenotypes. This includes disruptions in the formation of the axon tracts that form dorsal funiculus and the vetrolateral funiculus in the spinal cord. Mutants also exhibit a breakdown of the basal lamina in the cortex, resulting in cortical migration defects and the development of cobblestone lissencephaly.

Homozygous embryos can be obtained at normal Mendelian ratios up to embryonic day 18.5 (E18.5), but mutants that are born die immediately after birth due to apparent respiratory failure. Heterozygotes are viable and fertile.

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 9445 mice carry a T to A mutation in Ispd which converts leucine 79 to a stop codon (L79), resulting in an early truncation of the protein. This strain was backcrossed to C3H/HeJ for approximately 6 generations by the donating lab.

Control Information

  Control
   Wild-type female from the colony
   Wild-type from the colony
   000659 C3H/HeJ
 
  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, 7; MDDGA7   (ISPD)
Muscular Dystrophy-Dystroglycanopathy (limb-Girdle), Type C, 7; MDDGC7   (ISPD)
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.

Ispdm1Ddg/Ispdm1Ddg

        involves: C3H/He * C57BL/6
  • mortality/aging
  • complete neonatal lethality
    • mice die at birth due to respiratory failure   (MGI Ref ID J:194150)
  • nervous system phenotype
  • abnormal axon fasciculation
    • axons emanating from the midbrain and cranial nerves exhibit descending projections that fail to project through the hindbrain altogether and the central projections of the vagal complex projects aberrantly within the hindbrain 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 exhibit descending projections that fail to project through the hindbrain altogether and the central projections of the vagal complex projects aberrantly within the hindbrain compared with wild-type mice   (MGI Ref ID J:194150)
  • abnormal nervous system tract morphology
    • axons emanating from the midbrain and cranial nerves exhibit descending projections that fail to project through the hindbrain altogether and the central projections of the vagal complex projects aberrantly within the hindbrain compared with wild-type mice   (MGI Ref ID J:194150)
    • abnormal spinal cord ventral commissure morphology
      • at E11.5, commissural axons exhibit robust postcrossing trajectory defects with failure to project to the lateral portion of the funiculus and altered lateral and ventral funiculi ratio compared with wild-type mice   (MGI Ref ID J:194150)
      • at E13, a large number of commissural axons project abnormally within the floor plate unlike in wild-type mice   (MGI Ref ID J:194150)
  • abnormal radial glial cell morphology
    • endfoot detachment   (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)
  • ectopic neuron
    • neuronal heterotopias   (MGI Ref ID J:194150)
  • respiratory system phenotype
  • respiratory failure
  • cellular phenotype
  • abnormal axon fasciculation
    • axons emanating from the midbrain and cranial nerves exhibit descending projections that fail to project through the hindbrain altogether and the central projections of the vagal complex projects aberrantly within the hindbrain 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 exhibit descending projections that fail to project through the hindbrain altogether and the central projections of the vagal complex projects aberrantly within the hindbrain compared with wild-type mice   (MGI Ref ID J:194150)
  • abnormal basement membrane morphology
    • at E11.5, mice exhibit progressive fragmentation of the basement membrane surrounding the spinal cord which is accompanied by detachment of radial neuroepithelial endfeet from the basal surface unlike wild-type mice   (MGI Ref ID J:194150)
  • abnormal radial glial cell morphology
    • endfoot detachment   (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 Ispdm1Ddg
Allele Name mutation 1, David D Ginty
Allele Type Chemically induced (ENU)
Common Name(s) ISPDL79*; Line 9445;
Strain of OriginC57BL/6
Gene Symbol and Name Ispd, isoprenoid synthase domain containing
Chromosome 12
Gene Common Name(s) 4930579E17Rik; AV040780; MDDGA7; MDDGC7; Nip; RIKEN cDNA 4930579E17 gene; expressed sequence AV040780; hCG_1745121;
Molecular Note ENU induced a T to A mutation in Line 9445 that converts leucine 79 to a stop codon (L79) and results in an early truncation of the protein. [MGI Ref ID J:194150]

Genotyping

Genotyping Information

Genotyping Protocols

Ispdm1Ddgalternate1, 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 & HusbandryHeterozygotes are viable and fertile. Homozygotes are neonatal lethal.

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* $2525.00
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* $3283.00
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 female from the colony
   Wild-type from the colony
   000659 C3H/HeJ
 
  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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