Tg(SMN1*E134K)1Tlbt
Transgene Detail
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Symbol: |
Tg(SMN1*E134K)1Tlbt |
Name: |
transgene insertion 1, Kevin Talbot |
MGI ID: |
MGI:5493441 |
Synonyms: |
Human full length SMN with E134K point mutation, SMN E134K transgene |
Transgene: |
Tg(SMN1*E134K)1Tlbt Location: unknown
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Alliance: |
Tg(SMN1*E134K)1Tlbt page
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Transgene Type: |
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Transgenic (Inserted expressed sequence) |
Mutation: |
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Insertion
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Tg(SMN1*E134K)1Tlbt expresses
1 gene
Transgene expresses:
Organism |
Expressed Gene |
Homolog in Mouse |
Note |
human |
SMN1 (6606) |
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Transgene codes for a protein with a glutamic acid to lysine mutation. |
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Mutation details: This transgene contains the full length open reading frame of the human survival motor neuron 1 (SMN1) gene with a G to A transversion at nucleotide 400, resulting in replacement of glutamate by lysine at amino acid position 134 (E134K), under control of the ~750-bp SMN1 minimal promoter. The E134K mutation is associated in humans with some cases of Spinal Muscular Atrophy.
(J:197598)
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Mouse strains and cell lines
available from the International Mouse Strain Resource
(IMSR) |
Carrying this Mutation: |
Mouse Strains: 3 strains available
Cell Lines: 0 lines available
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Original: |
J:197598 Parkinson N, Personal Communication: SMN E134K transgene. Personal Communication to K. Pickford at Harwell. 2012; |
All: |
1 reference(s) |
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