Tg(SMN2-SMN1*I116F)11Ahmb
Transgene Detail
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Symbol: |
Tg(SMN2-SMN1*I116F)11Ahmb |
Name: |
transgene insertion 11, Arthur H M Burghes |
MGI ID: |
MGI:6199484 |
Synonyms: |
SMNI116F |
Transgene: |
Tg(SMN2-SMN1*I116F)11Ahmb Location: unknown
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Alliance: |
Tg(SMN2-SMN1*I116F)11Ahmb page
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Transgene Type: |
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Transgenic (Humanized sequence, Inserted expressed sequence) |
Mutations: |
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Insertion, Nucleotide substitutions
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Tg(SMN2-SMN1*I116F)11Ahmb expresses
1 gene
Transgene expresses:
Organism |
Expressed Gene |
Homolog in Mouse |
Note |
human |
SMN1 (6606) |
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Mutation details: The transgenic construct is designed with a human SMN1 cDNA carrying the p.Ile116Phe missense mutation in exon 3 under the control of the 4.1 kb human SMN2 promoter. Founder line 11 carries four copies of the transgene.
(J:265815)
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Mouse strains and cell lines
available from the International Mouse Strain Resource
(IMSR) |
Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available
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Original: |
J:265815 Iyer CC, et al., Mild SMN missense alleles are only functional in the presence of SMN2 in mammals. Hum Mol Genet. 2018 Oct 1;27(19):3404-3416 |
All: |
2 reference(s) |
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