Overview

Also Known As:SMN2(N11, N46);Smn+/-

Triple mutant mice that are homozygous for the Smn1^tm1Msd allele and hemizygous for the two transgenes, Tg(SMN2)11Tro and Tg(SMN2)46Tro, exhibit diminished weight gain, progressive muscle weakness, necrotic lesions and loss of neurons in the sciatic nerve. This mutant mouse strain may be useful in neuromuscular studies related to Spinal Muscular Atrophy (SMA).

Donating Investigator

Thierry Bordet, TROPHOS

Genetic overview

Genetic Background	Generation

Smn1^tm1Msd

Allele Type	Gene Symbol	Gene Name
Targeted (Reporter, Null/Knockout)	Smn1	survival motor neuron 1

Tg(SMN2)46Tro

Allele Type
Transgenic (Inserted expressed sequence, Humanized sequence)

Tg(SMN2)11Tro

Allele Type
Transgenic (Inserted expressed sequence, Humanized sequence)

View Genetics

Research Applications

View All Research Applications

Details

Expression Data

Expressed Gene	lacZ, beta-galactosidase, E. coli
Site of Expression	The expression of the lacZ gene in tissues where Smn is normally expressed was noted.
Expressed Gene	SMN2, survival of motor neuron 2, centromeric, human
Site of Expression
Expressed Gene	SMN2, survival of motor neuron 2, centromeric, human
Site of Expression

Control Suggestions

005304 C57BL/6NJ

Additional Information

Considerations for Choosing Controls

Genetics

Smn1^tm1Msd

Allele Symbol: Smn1^tm1Msd

Allele Name	targeted mutation 1, Michael Sendtner
Allele Type	Targeted (Reporter, Null/Knockout)
Allele Synonym(s)	SMN^-
Gene Symbol and Name	Smn1, survival motor neuron 1
Gene Synonym(s)
Expressed Gene	lacZ, beta-galactosidase, E. coli
Site of Expression	The expression of the lacZ gene in tissues where Smn is normally expressed was noted.
Strain of Origin	129P2/OlaHsd
Chromosome	13
Molecular Note	A lacZ-neo cassette was inserted into exon 2 by homologous recombination resulting in an in-frame fusion of lacZ to exon 2. Homozygous mutant embryos were identified up to 80 hours post coitum. The expression of the lacZ gene in tissues where Smn is normally expressed was noted.
Mutations Made By	Michael Sendtner

Tg(SMN2)46Tro

Allele Symbol: Tg(SMN2)46Tro

Allele Name	transgene insertion 46, Thierry Bordet
Allele Type	Transgenic (Inserted expressed sequence, Humanized sequence)
Allele Synonym(s)	SMN2(N46)
Gene Symbol and Name	Tg(SMN2)46Tro, transgene insertion 46, Thierry Bordet
Gene Synonym(s)
Promoter	SMN2, survival of motor neuron 2, centromeric, human
Expressed Gene	SMN2, survival of motor neuron 2, centromeric, human
Strain of Origin	FVB/N
Chromosome	UN
Molecular Note	A 35.5 kb Ba mHI genomic fragment encoding the human SMN2 promoter and gene (derived from genomic clone PAC215P15) was injected into fertilized FVB/N mouse oocytes. Transgenic SMN2 mice from founder line 46, which contains 2 copies of the transgene, were established.

Tg(SMN2)11Tro

Allele Symbol: Tg(SMN2)11Tro

Allele Name	transgene insertion 11, Thierry Bordet
Allele Type	Transgenic (Inserted expressed sequence, Humanized sequence)
Allele Synonym(s)	SMN2(N11)
Gene Symbol and Name	Tg(SMN2)11Tro, transgene insertion 11, Thierry Bordet
Gene Synonym(s)
Promoter	SMN2, survival of motor neuron 2, centromeric, human
Expressed Gene	SMN2, survival of motor neuron 2, centromeric, human
Strain of Origin	FVB/N
Chromosome	UN
Molecular Note	A 35.5 kb Ba mHI genomic fragment encoding the human SMN2 promoter and gene (derived from genomic clone PAC215P15) was injected into fertilized FVB/N mouse oocytes. Transgenic SMN2 mice from founder line 11, which contains 1 copy of the transgene, were established.

Disease/Phenotype

Disease Terms

Characteristics of this human disease are associated with transgenes and other mutation types in the mouse.

Werdnig-Hoffmann disease

Research Areas By Phenotype

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

Mammalian Phenotype Terms by Genotype

References

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Standard PCR:Smn1
- Separated PCR:Smn1
- QPCR:SMN Genomic
- Genotyping resources and troubleshooting
Breeding Considerations

These triple mutant mice are maintained by breeding animals from Stock No. 008630 with animals from Stock No. 008629 every generation. The two randomly inserted transgenes segregate independently.
- Additional Breeding and Husbandry Support
Mating System
- See "Breeding Considerations"
Citation
When using the B6.Cg-Tg(SMN2)11Tro Tg(SMN2)46Tro Smn1^tm1Msd/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #008631 in your Materials and Methods section.

Also Known As:SMN2(N11, N46);Smn+/-

Donating Investigator

Genetic overview

Research Applications

Expression Data

Control Suggestions

Additional Information

Smn1tm1Msd

Allele Symbol: Smn1tm1Msd

Tg(SMN2)46Tro

Allele Symbol: Tg(SMN2)46Tro

Tg(SMN2)11Tro

Allele Symbol: Tg(SMN2)11Tro

Disease Terms

Characteristics of this human disease are associated with transgenes and other mutation types in the mouse.

Research Areas By Phenotype

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

Mammalian Phenotype Terms by Genotype

References

Genotyping Protocols

Breeding Considerations

Mating System

Citation

Smn1^tm1Msd

Allele Symbol: Smn1^tm1Msd