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Strain Name:

B6.Cg-Tg(Eno2-Ighmbp2)90Cx Ighmbp2nmd-2J/Cx

Stock Number:

003834

Availability:

Research Strain


General Terms and Conditions

Former Name      C57BL/6J-Tg(Eno2-Ighmbp2)90Cx/Cx    (Changed: 08-APR-08 )
      C57BL/6J-Tg(NSEIghmbp2)90Cx    (Changed: 07-APR-08 )
      C57BL/6J-TgN(NSEIghmbp2)90Cx    (Changed: 15-DEC-04 )
Genes & Alleles   Ighmbp2;   Ighmbp2nmd-2J;   Tg(Eno2-Ighmbp2)90Cx;


Product Information

Strain Details

Type JAX® GEMM® Strain - Transgenic
Additional information on JAX® GEMM® Strains.
Mating SystemOther - see Strain Mating Scheme Text         (Female x Male)
Tg/0 nmd-2J/+ x +/+ nmd-2J/+
Specieslaboratory mouse
Donating Investigator Gregory Cox,   The Jackson Laboratory

Strain Description
Mice hemizygous for the transgene are viable and fertile. RT-PCR analysis indicates that transgene expression is limited to the central nervous system including forebrain, cerebellum and spinal cord. The presence of the transgene rescues the neuromuscular degeneration exhibited by nmd-2J mice. These mice have no obvious phenotype. This strain is useful for studies involving the role of Ighmpb2 in motor neuron disease.

Strain 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 90 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.

Mammalian Phenotype Terms assigned by genotype

Ighmbp2nmd-2J/Ighmbp2nmd-2J Tg(Eno2-Ighmbp2)90Cx/?

        involves: C57BL/6J * C57BLKS/J
  • life span-post-weaning/aging
  • premature death (MGI Ref ID J:90418)
    • phenotype is stated to be identical to that observed when Tg(Eno2-Ighmbp2)17Cx mice are used in this cross (GA Cox, personal communication)
  • growth/size phenotype
  • weight loss (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)
      • abnormal PQ interval (MGI Ref ID J:90418)
      • abnormal QRS complex (MGI Ref ID J:90418)
      • prolonged P wave (MGI Ref ID J:90418)
    • dilated cardiomyopathy (MGI Ref ID J:90418)
  • muscle phenotype
  • *normal* muscle phenotype (MGI Ref ID J:90418)
    • dilated cardiomyopathy (MGI Ref ID J:90418)
    • muscle degeneration (MGI Ref ID J:90418)
  • respiratory system phenotype
  • decreased breathing frequency (MGI Ref ID J:90418)
  • pulmonary edema (MGI Ref ID J:90418)
  • nervous system phenotype
  • *normal* nervous system phenotype (MGI Ref ID J:90418)
  • homeostasis/metabolism phenotype
  • pulmonary edema (MGI Ref ID J:90418)

Gene & Allele Details

Allele Symbol Ighmbp2nmd-2J
Allele Name neuromuscular degeneration 2 Jackson
Common Name(s) nmd2J;
Strain of OriginBKS.Cg-m +/+ Leprdb/J
Gene Symbol and Name Ighmbp2, immunoglobulin mu binding protein 2
Chromosome 19
Gene Common Name(s) AEP; CATF1; FLJ34220; FLJ41171; HCSA; HMN6; MGC124598; RIPE3b1; SMARD1; SMUBP2; Smbp-2; Smbp2; 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)90Cx
Allele Name transgene insertion 90, Gregory A Cox
Common Name(s) Tg(Eno2-Ighmpb2)90Cx;
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]

Related Strains

View Strains carrying   Ighmbp2nmd-2J     (4 strains)

Strains carrying other alleles of Ighmbp2
003833   B6.Cg-Tg(Eno2-Ighmpb2)17Cx Ighmbp2nmd-2J/Cx
View Strains carrying other alleles of Ighmbp2     (1 strain)

Research Applications

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

Ighmbp2nmd-2J related

Mouse/Human Gene Homologs
Spinal Muscular Atrophy with Respiratory Distress Type I (SMARD1)

Neurobiology Research
Neurodegeneration
Neuromuscular Defects

References

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

Price and Supply Information

Strain Name: B6.Cg-Tg(Eno2-Ighmbp2)90Cx Ighmbp2nmd-2J/Cx
Stock Number: 003834

Price Details

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Supply Details

Standard SupplyResearch Strain. Availability determined by The Jackson Laboratory scientist holding the strain.
LicensingSee General Terms and Conditions below  

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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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