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B6.Cg-Ighmbp2nmd-2J Tg(Ttn-Ighmbp2)108Cx/Cx
Stock No: 006514
  • Congenic
  • Targeted Mutation
  • Transgenic
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  • Overview
  • Details
    • Detailed Description
    • Development
    • Expression Data
    • Selected References
  • Genetics
  • Disease/Phenotype
    • Disease Terms
    • Research Areas By Phenotype
    • Mammalian Phenotype Terms by Genotype
    • References
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Overview

This strain carries the spontaneous mutation neuromuscular degeneration (nmd-2J) and a transgene expressing Ighmbp2 under the control of the muscle-specific titin (Ttn) promoter. The transgene extends lifespan by preventing primary dilated cardiac myopathy despite the presence of neuromuscular degeneration. This strain is useful for studies involving the role of Ighmpb2 in motor neuron disease and human cardiomyopathy.

Donating Investigator

Gregory Cox, The Jackson Laboratory

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Genetic overview

Genetic Background Generation
N10+F21
(2017-10-18 00:00:00)

Ighmbp2nmd-2J

Allele Type Gene Symbol Gene Name
Spontaneous Ighmbp2 immunoglobulin mu binding protein 2

Tg(Ttn-Ighmbp2)108Cx

Allele Type
Transgenic (Inserted expressed sequence)
View Genetics

Research Applications

  • Neurobiology Research
  • Mouse/Human Gene Homologs
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Base Price

Starting at:

$179.88 Domestic price for female
470.89 Domestic price for breeder pair
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Details

Detailed Description

Immunoglobulin mu binding protein 2 (IGHMBP2) is a DNA/RNA helicase implicated in transcriptional regulation and mRNA splicing. Mutations in IGHMBP2 are associated with the degeneration of alpha motor neurons and spinal muscular atrophy (DSMA1, SMARD1, HMN6) as well as dilated cardiac myopathy (DCM) and skeletal myopathy. nmd-2J mutant mice are characterized by a progressive paralysis that begins in the hindlimbs and moves to the forelimbs in the later stages of the disease. Homozygotes initially are identified by contracted hindlimbs and impaired movement beginning at two weeks of age. Mice rarely survive past 4 weeks of age. Combining nmd-2J mice with transgenic mice expressing Ighmbp2 under the control of the rat neuron-specific enolase promoter (Stock No. 003834, TgNI) halts neuromuscular degeneration, but reveals the presence of cardiac myopathy followed by premature death as a result of congestive heart failure (CHF).

In this strain, nmd-2J mice are combined with transgenic mice expressing Ighmbp2 under the control of the muscle-specific titin (Ttn) promoter (TgMI), the transgene extends lifespan by preventing primary DCM despite the presence of neuromuscular degeneration. Transgene founder lines 45 and 108 exhibit similar phenotypes. This strain is useful for studies involving the role of Ighmpb2 in motor neuron disease and human cardiomyopathy.

Development

A transgenic construct was designed with a full-length Ighmbp2 cDNA under the control of the mouse titin promoter. The construct was introduced into C57BL/6J donor eggs. Founder line 108 was consequently established. Transgenic mice were crossed to the spontaneous mutant B6.BKS-Ighmbp2nmd-2J for two generations to generate transgene positive mice homozygous for the nmd-2J.

Expression Data

Expressed Gene Ighmbp2, immunoglobulin mu binding protein 2, mouse, laboratory
Site of Expression

Selected References

  • Maddatu TP; Garvey SM; Schroeder DG; Zhang W; Kim SY; Nicholson AI; Davis CJ; Cox GA. 2005. Dilated cardiomyopathy in the nmd mouse: transgenic rescue and QTLs that improve cardiac function and survival. Hum Mol Genet 14(21):3179-89PubMed: 16174646MGI: J:102748
View All References

Genetics

Ighmbp2nmd-2J

Allele Symbol: Ighmbp2nmd-2J

Allele Name neuromuscular degeneration 2 Jackson
Allele Type Spontaneous
Allele Synonym(s) nmd2J
Gene Symbol and Name Ighmbp2, immunoglobulin mu binding protein 2
Gene Synonym(s)
Strain of Origin BKS.Cg-Dock7m +/+ Leprdb/J
Chromosome 19
Molecular Note An A-to-G transition mutation in intron 4 results in the creation of a cryptic splice site and interferes with the normal splicing of the transcript. RT-PCR analysis on RNA derived from various tissues of homozygous mice demonstrated that approximately 20-25% of the transcripts were spliced normally, while 75-80% of the transcripts were spliced aberrantly. This allele also presents with a deletion of one of the two leucine codons at position 362 and 363 in exon 8 (SW:P40694).

Tg(Ttn-Ighmbp2)108Cx

Allele Symbol: Tg(Ttn-Ighmbp2)108Cx

Allele Name transgene insertion 108, Gregory A Cox
Allele Type Transgenic (Inserted expressed sequence)
Allele Synonym(s) TgMI
Gene Symbol and Name Tg(Ttn-Ighmbp2)108Cx, transgene insertion 108, Gregory A Cox
Gene Synonym(s)
PromoterTtn, titin, mouse, laboratory
Expressed GeneIghmbp2, immunoglobulin mu binding protein 2, mouse, laboratory
Strain of Origin C57BL/6J
Chromosome UN
Molecular Note a cDNA sequence encoding the full mouse Ighmbp2 was placed under the control of a modified 5.87 kb mouse genomic fragment containing the Ttn promoter, non-coding Ttn exon 1, intron 1, and 30 base pairs of Ttn exon 2 lacking the start codon. Transgene expression was limited to the heart and skeletal muscles as confirmed by RT-PCR expression using Ighmbp2 exon 1.

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

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

Genotype: Ighmbp2nmd-2J related

  • Neurobiology Research
    • Neurodegeneration
    • Spinal Muscular Atrophy (SMA)
    • Amyotrophic Lateral Sclerosis (ALS)
  • Mouse/Human Gene Homologs
    • Spinal Muscular Atrophy with Respiratory Distress Type I (SMARD1)

Mammalian Phenotype Terms by Genotype

The following phenotype relates to a compound genotype created using this strain

Genotype: Ighmbp2nmd-2J/Ighmbp2nmd-2J Tg(Ttn-Ighmbp2)108Cx/?
involves: C57BL/6J * C57BLKS/J

nervous system phenotype

  • motor neuron degeneration
    • severe skeletal muscle neurogenic atrophy
    • (MGI Ref ID J:102748)

behavior/neurological phenotype

  • dysphagia
    • difficulty in mastication or deglutition
    • (MGI Ref ID J:102748)
  • abnormal food intake
      (MGI Ref ID J:102748)

digestive/alimentary phenotype

  • dysphagia
    • difficulty in mastication or deglutition
    • (MGI Ref ID J:102748)
  • enlarged esophagus
    • susceptible to mega-esophagus
    • (MGI Ref ID J:102748)

growth/size/body region phenotype

  • enlarged esophagus
    • susceptible to mega-esophagus
    • (MGI Ref ID J:102748)
  • weight loss
    • the presence of the transgene does not rescue the weight loss found in nmd-2J homozygotes
    • (MGI Ref ID J:102748)

mammalian phenotype

  • cardiovascular system phenotype
    • Normal - mean ventricular free-wall thickness is normal
    • (MGI Ref ID J:102748)

mortality/aging

  • premature death
    • lifespan is longer than that of nmd-2J mutants but shorter than that of wild-type controls and falls partway between the two points
    • (MGI Ref ID J:102748)

muscle phenotype

  • muscle degeneration
    • resulting from the spinal motor neuron degeneration
    • (MGI Ref ID J:102748)

References

  • Maddatu TP; Garvey SM; Schroeder DG; Zhang W; Kim SY; Nicholson AI; Davis CJ; Cox GA. 2005. Dilated cardiomyopathy in the nmd mouse: transgenic rescue and QTLs that improve cardiac function and survival. Hum Mol Genet 14(21):3179-89PubMed: 16174646MGI: J:102748

Additional - Ighmbp2nmd-2J related

Additional - Tg(Ttn-Ighmbp2)108Cx related

Technical Support

CONTACT TECHNICAL SUPPORT
  • Genotyping Protocols

    • Genotyping resources and troubleshooting
  • Mating System

    • Tg/0 nmd-2J/+ x +/+ nmd-2J/
  • Citation

    When using the B6.Cg-Ighmbp2nmd-2J Tg(Ttn-Ighmbp2)108Cx/Cx mouse strain in a publication, please cite the originating article(s) and include JAX stock #006514 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

A6 (Intermediate)

Pricing & Availability

Availability Varies
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Live Mouse

Age Genotype Price
weeks

Breeder Pair

Sex Genotype Price
Female
Male

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The Jackson Laboratory's Genotype Promise

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. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.

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Email: TechTran@jax.org

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