Strain Name:

B6.Cg-Tg(Eno2-Ighmpb2)17Cx Ighmbp2nmd-2J/Cx

Stock Number:

003833

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Research Strain

This strain carries the spontaneous mutation neuromuscular degeneration (nmd-2J) and a transgene expressing Ighmbp2 under the control of the neuron-specific rat enolase (Eno2) promoter. The transgene halts neuromuscular degeneration. This strain is useful for studies involving the role of Ighmpb2 in motor neuron disease and human cardiomyopathy.

Description

Strain Information

Former Names C57BL/6J-Tg(Eno2-Ighmpb2)17Cx/Cx    (Changed: 08-APR-08 )
C57BL/6J-Tg(NSEIghmbp2)17Cx    (Changed: 27-DEC-07 )
Type Congenic; Mutant Strain; Spontaneous Mutation; Transgenic;
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Mating SystemTg/0 nmd-2J/+ x +/+ nmd-2J/+
Specieslaboratory mouse
H2 Haplotypeb
GenerationN10+F8 (01-DEC-09)
Generation Definitions
 
Donating Investigator Gregory Cox,   The Jackson Laboratory

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). RT-PCR analysis indicates that transgene expression is limited to the central nervous system including forebrain, cerebellum and spinal cord. 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 rat enolase 2 promoter. The construct was introduced into C57BL/6J donor eggs. Founder line 17 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. This strain has been maintained by sibling inbreeding.

Related Strains

View Strains carrying   Ighmbp2nmd-2J     (4 strains)

View Strains carrying other alleles of Eno2     (12 strains)

View Strains carrying other alleles of Ighmbp2     (3 strains)

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.
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1; DSMA1   (IGHMBP2)
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

Ighmbp2nmd-2J/Ighmbp2nmd-2J Tg(Eno2-Ighmbp2)17Cx/?

        involves: C57BL/6J * C57BLKS/J
  • mortality/aging
  • premature death
    • at 49 days for males and 54 days for females   (MGI Ref ID J:90418)
    • maximum life span is 87 days for females   (MGI Ref ID J:90418)
  • cardiovascular system phenotype
  • abnormal cardiovascular system physiology   (MGI Ref ID J:90418)
    • abnormal impulse conducting system conduction   (MGI Ref ID J:90418)
      • prolonged P wave
        • sometimes split   (MGI Ref ID J:90418)
      • prolonged PR interval
        • prolonged P-R interval   (MGI Ref ID J:90418)
      • prolonged QRS complex duration
        • prolonged   (MGI Ref ID J:90418)
    • dilated cardiomyopathy
      • grossly dilated hearts with one or more thrombi   (MGI Ref ID J:90418)
  • muscle phenotype
  • *normal* muscle phenotype
    • grossly normal hind limb muscle phenotype   (MGI Ref ID J:90418)
    • dilated cardiomyopathy
      • grossly dilated hearts with one or more thrombi   (MGI Ref ID J:90418)
    • muscle degeneration
      • mild myopathic changes including myocyte degeneration and regeneration with centralized nucleii   (MGI Ref ID J:90418)
  • nervous system phenotype
  • *normal* nervous system phenotype
    • axon morphology and nerve root diameters are normal   (MGI Ref ID J:90418)
  • respiratory system phenotype
  • decreased pulmonary respiratory rate
    • reduced breathing rate (bradypnea)   (MGI Ref ID J:90418)
  • pleural effusion   (MGI Ref ID J:90418)
  • pulmonary edema
    • consolidation of lungs   (MGI Ref ID J:90418)
  • growth/size/body phenotype
  • weight loss   (MGI Ref ID J:90418)
  • homeostasis/metabolism phenotype
  • increased circulating creatine kinase level
    • 3-7 days prior to clearly evident clinical signs of heart disease, total plasma CK and cardiac-specific CK-MB levels in 5- to 9-week-old mice become significantly elevated   (MGI Ref ID J:90418)
  • pleural effusion   (MGI Ref ID J:90418)
  • pulmonary edema
    • consolidation of lungs   (MGI Ref ID J:90418)
View Research Applications

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

Neurobiology Research
Neuromuscular Defects

Research Tools
Neurobiology Research

Ighmbp2nmd-2J related

Neurobiology Research
Amyotrophic Lateral Sclerosis (ALS)
Neurodegeneration
Spinal Muscular Atrophy (SMA)

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Ighmbp2nmd-2J
Allele Name neuromuscular degeneration 2 Jackson
Allele Type Spontaneous
Common Name(s) nmd2J;
Strain of OriginBKS.Cg-Dock7m +/+ Leprdb/J
Gene Symbol and Name Ighmbp2, immunoglobulin mu binding protein 2
Chromosome 19
Gene Common Name(s) AEP; CATF1; HCSA; HMN6; RIPE3b1; SMARD1; SMUBP2; Smbp-2; Smbp2; ZFAND7; immunoglobulin S mu binding protein 2; neuromuscular degeneration; nmd; p110 subunit; sma; spinal muscular atrophy;
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. [MGI Ref ID J:51890]
 
Allele Symbol Tg(Eno2-Ighmbp2)17Cx
Allele Name transgene insertion 17, Gregory A Cox
Allele Type Transgenic (Inserted expressed sequence)
Common Name(s) TgNI;
Strain of OriginC57BL/6J
Expressed Gene Ighmbp2, immunoglobulin mu binding protein 2, mouse, laboratory
Promoter Eno2, enolase 2, gamma, neuronal, rat
Molecular Note A 3.1 kb mouse Ighmbp2 cDNA sequence was placed under the control of a 4 kb sequence containing the rat Eno2 promoter. Transgene expression was limited to the central nervous system as confirmed by RT-PCR expression using primers within exon 1. [MGI Ref ID J:90418]
 
 

Genotyping

Genotyping Information

Genotyping Protocols

Tg(Eno2-Ighmbp2)17Cx, Standard PCR
Tg(Eno2-Ighmbp2)17Cx, Standard PCR


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Maddatu TP; Garvey SM; Schroeder DG; Hampton TG; Cox GA. 2004. Transgenic rescue of neurogenic atrophy in the nmd mouse reveals a role for Ighmbp2 in dilated cardiomyopathy. Hum Mol Genet 13(11):1105-15. [PubMed: 15069027]  [MGI Ref ID J:90418]

Additional References

Ighmbp2nmd-2J related

Cook SA; Johnson KR; Bronson RT; Davisson MT. 1995. Neuromuscular degeneration (nmd): a mutation on mouse chromosome 19 that causes motor neuron degeneration. Mamm Genome 6(3):187-91. [PubMed: 7749225]  [MGI Ref ID J:23584]

Cox GA; Mahaffey CL; Frankel WN. 1998. Identification of the mouse neuromuscular degeneration gene and mapping of a second site suppressor allele. Neuron 21(6):1327-37. [PubMed: 9883726]  [MGI Ref ID J:51890]

Grohmann K; Rossoll W; Kobsar I; Holtmann B; Jablonka S; Wessig C; Stoltenburg-Didinger G; Fischer U; Hubner C; Martini R; Sendtner M. 2004. Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1). Hum Mol Genet 13(18):2031-42. [PubMed: 15269181]  [MGI Ref ID J:92862]

Krieger F; Elflein N; Ruiz R; Guerra J; Serrano AL; Asan E; Tabares L; Jablonka S. 2013. Fast motor axon loss in SMARD1 does not correspond to morphological and functional alterations of the NMJ. Neurobiol Dis 54:169-82. [PubMed: 23295857]  [MGI Ref ID J:197642]

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):3179-89. [PubMed: 16174646]  [MGI Ref ID J:102748]

Ruiz R; Lin J; Forgie A; Foletti D; Shelton D; Rosenthal A; Tabares L. 2005. Treatment with trkC agonist antibodies delays disease progression in neuromuscular degeneration (nmd) mice. Hum Mol Genet 14(13):1825-37. [PubMed: 15888478]  [MGI Ref ID J:99795]

de Planell-Saguer M; Schroeder DG; Rodicio MC; Cox GA; Mourelatos Z. 2009. Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery. Hum Mol Genet 18(12):2115-26. [PubMed: 19299493]  [MGI Ref ID J:148546]

Tg(Eno2-Ighmbp2)17Cx related

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):3179-89. [PubMed: 16174646]  [MGI Ref ID J:102748]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Room Number           A6

Colony Maintenance

Mating SystemTg/0 nmd-2J/+ x +/+ nmd-2J/+

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


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

Live Mice

Price per mouse (US dollars $)GenderGenotypes Provided
Individual Mouse $270.25Female or MaleHemizygous for Tg(Eno2-Ighmpb2)17Cx, Heterozygous for Ighmbp2nmd-2J  
$166.90Female or MaleNoncarrier, Heterozygous for Ighmbp2nmd-2J  
Price per Pair (US dollars $)Pair Genotype
$437.10Hemizygous for Tg(Eno2-Ighmpb2)17Cx, Heterozygous for Ighmbp2nmd-2J x Noncarrier, Heterozygous for Ighmbp2nmd-2J  
$437.10Noncarrier, Heterozygous for Ighmbp2nmd-2J x Hemizygous for Tg(Eno2-Ighmpb2)17Cx, Heterozygous for Ighmbp2nmd-2J  

Standard Supply

Research Strain. Availability determined by The Jackson Laboratory scientist holding the strain.

Pricing for International shipping destinations View USA Canada and Mexico Pricing

Live Mice

Price per mouse (US dollars $)GenderGenotypes Provided
Individual Mouse $351.40Female or MaleHemizygous for Tg(Eno2-Ighmpb2)17Cx, Heterozygous for Ighmbp2nmd-2J  
$217.00Female or MaleNoncarrier, Heterozygous for Ighmbp2nmd-2J  
Price per Pair (US dollars $)Pair Genotype
$568.30Hemizygous for Tg(Eno2-Ighmpb2)17Cx, Heterozygous for Ighmbp2nmd-2J x Noncarrier, Heterozygous for Ighmbp2nmd-2J  
$568.30Noncarrier, Heterozygous for Ighmbp2nmd-2J x Hemizygous for Tg(Eno2-Ighmpb2)17Cx, Heterozygous for Ighmbp2nmd-2J  

Standard Supply

Research Strain. Availability determined by The Jackson Laboratory scientist holding the strain.

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Research Strain. Availability determined by The Jackson Laboratory scientist holding the strain.

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