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Strain Name:

B6.Cg-Ighmbp2nmd-2J Tg(Ttn-Ighmbp2)108Cx/Cx

Stock Number:

006514

Availability:

Research Strain

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General Terms and Conditions

Genes & Alleles   Ighmbp2;   Ighmbp2nmd-2J;   Tg(Ttn-Ighmbp2)108Cx;

Product Information

Strain Details

Type JAX® GEMM® Strain - Congenic
Additional information on JAX® GEMM® Strains.
Type JAX® GEMM® Strain - Targeted Mutation
Type JAX® GEMM® Strain - Transgenic
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 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.

Mammalian Phenotype Terms assigned by genotype

Ighmbp2nmd-2J/Ighmbp2nmd-2J Tg(Ttn-Ighmbp2)108Cx/?

        involves: C57BL/6J * C57BLKS/J
  • nervous system phenotype
  • motor neuron degeneration (MGI Ref ID J:102748)
    • severe skeletal muscle neurogenic atrophy
  • muscle phenotype
  • muscle degeneration (MGI Ref ID J:102748)
    • resulting from the spinal motor neuron degeneration
  • behavior/neurological phenotype
  • abnormal food intake (MGI Ref ID J:102748)
    • dysphagia (MGI Ref ID J:102748)
      • difficulty in mastication or deglutition
  • cardiovascular system phenotype
  • *normal* cardiovascular system phenotype (MGI Ref ID J:102748)
    • mean ventricular free-wall thickness is normal
  • life span-post-weaning/aging
  • premature death (MGI Ref ID J:102748)
    • lifespan is longer than that of nmd-2J mutants but shorter than that of wild type controls and falls partway between the two points
  • digestive/alimentary phenotype
  • dysphagia (MGI Ref ID J:102748)
    • difficulty in mastication or deglutition
  • enlarged esophagus (MGI Ref ID J:102748)
    • susceptible to mega-esophagus
  • growth/size phenotype
  • weight loss (MGI Ref ID J:102748)
    • the presence of the transgene does not rescue the weight loss found in nmd-2J homozygotes

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(Ttn-Ighmbp2)108Cx
Allele Name transgene insertion 108, Gregory A Cox
Common Name(s) TgMI;
Strain of OriginC57BL/6J
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. [MGI Ref ID J:102748]

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)

Additional Web Information

Congenic Nomenclature

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; 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]

Additional References

Price and Supply Information

Strain Name: B6.Cg-Ighmbp2nmd-2J Tg(Ttn-Ighmbp2)108Cx/Cx
Stock Number: 006514

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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