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; Additional information on Genetically Engineered Mutant Mice. Mating System Tg/0 nmd-2J/+ x +/+ nmd-2J/+ Species laboratory mouse H2 Haplotype b Generation N10+F6 (30-OCT-08)   Donating Investigator Gregory Cox,   The Jackson Laboratory

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.

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-Ighmbp2^nmd-2J for two generations to generate transgene positive mice homozygous for the nmd-2J. This strain has been maintained by sibling inbreeding.

Related Strains

Strains carrying   Ighmbp2^nmd-2J allele

002521	B6.BKS-Ighmbp2nmd-2J/J
006514	B6.Cg-Ighmbp2nmd-2J Tg(Ttn-Ighmbp2)108Cx/Cx
006513	B6.Cg-Ighmbp2nmd-2J Tg(Ttn-Ighmbp2)45Cx/Cx
003834	B6.Cg-Tg(Eno2-Ighmbp2)90Cx Ighmbp2nmd-2J/Cx

View Strains carrying   Ighmbp2^nmd-2J     (4 strains)

Strains carrying other alleles of Eno2

003834	B6.Cg-Tg(Eno2-Ighmbp2)90Cx Ighmbp2nmd-2J/Cx
006663	B6.Cg-Tg(Eno2-cre)39Jme/J
003767	B6.Cg-Tg(Eno2tTA)5021Nes/J
003763	B6.Cg-Tg(Eno2tTA)5030Nes/J
004360	B6;SJL-Tg(HD)63Aron/J
007860	C57BL/6J-Tg(Eno2-YFP/Cox8a)ZRwb/J
006297	FVB.Cg-Tg(Eno2-cre)39Jme/J
003753	FVB/N-Tg(Eno2CDK5R1)1Jdm/J
005938	STOCK Tg(Eno2-cre)39Jme/J

View Strains carrying other alleles of Eno2     (9 strains)

Strains carrying other alleles of Ighmbp2

006514	B6.Cg-Ighmbp2nmd-2J Tg(Ttn-Ighmbp2)108Cx/Cx
006513	B6.Cg-Ighmbp2nmd-2J Tg(Ttn-Ighmbp2)45Cx/Cx
003834	B6.Cg-Tg(Eno2-Ighmbp2)90Cx Ighmbp2nmd-2J/Cx

View Strains carrying other alleles of Ighmbp2     (3 strains)

Additional Web Information

Congenic Nomenclature

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms

      assigned by genotype

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

        involves: C57BL/6J * C57BLKS/J

• life span-post-weaning/aging
• premature death (MGI Ref ID J:90418)
  • at 49 days for males and 54 days for females
  • maximum life span is 87 days for females
• 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)
  • prolonged P-R interval
• abnormal QRS complex (MGI Ref ID J:90418)
  • prolonged
• prolonged P wave (MGI Ref ID J:90418)
  • sometimes split
• dilated cardiomyopathy (MGI Ref ID J:90418)
  • grossly dilated hearts with one or more thrombi
  • creatine kinase and cardiac isoform elevaed by as much as 5 fold prior to clinical symptoms
• muscle phenotype
• *normal* muscle phenotype (MGI Ref ID J:90418)
  • grossly normal hind limb muscle phenotype
• dilated cardiomyopathy (MGI Ref ID J:90418)
  • grossly dilated hearts with one or more thrombi
  • creatine kinase and cardiac isoform elevaed by as much as 5 fold prior to clinical symptoms
• muscle degeneration (MGI Ref ID J:90418)
  • mild myopathic changes including myocyte degeneration and regeneration with centralized nucleii
• nervous system phenotype
• *normal* nervous system phenotype (MGI Ref ID J:90418)
  • axon morphology and nerve root diameters are normal
• respiratory system phenotype
• decreased breathing frequency (MGI Ref ID J:90418)
  • reduced breathing rate (bradypnea)
• pulmonary edema (MGI Ref ID J:90418)
  • consolidation of lungs and pleural effusion
• growth/size phenotype
• weight loss (MGI Ref ID J:90418)
• homeostasis/metabolism phenotype
• pulmonary edema (MGI Ref ID J:90418)
  • consolidation of lungs and pleural effusion

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

Ighmbp2^nmd-2J related

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

Neurobiology Research
Neurodegeneration
Neuromuscular Defects

Genes & Alleles

Gene & Allele Information

Allele Symbol		Ighmbp2nmd-2J
Allele Name		neuromuscular degeneration 2 Jackson
Allele Type		Spontaneous
Common Name(s)		nmd2J;
Strain of Origin		BKS.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)17Cx
Allele Name		transgene insertion 17, Gregory A Cox
Allele Type		Transgenic (random, expressed)
Common Name(s)		TgNI;
Strain of Origin		C57BL/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, STD PCR, vers. 1
Tg(Eno2-Ighmbp2)17Cx, STD PCR, vers. 2

Helpful Links

Optimizing PCR Protocols

References

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

Ighmbp2^nmd-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]

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]

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

Colony Maintenance

Mating System	Tg/0 nmd-2J/+ x +/+ nmd-2J/+

Purchasing information

Pricing, Supply Level & Notes, Controls, General Terms & Conditions

Pricing

Supply Details

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

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