Got2em1Pcamp
Endonuclease-mediated Allele Detail
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Symbol: |
Got2em1Pcamp |
Name: |
glutamatic-oxaloacetic transaminase 2, mitochondrial; endonuclease-mediated mutation 1, Philippe Campeau |
MGI ID: |
MGI:7464269 |
Synonyms: |
Got2emhD335fs14* |
Gene: |
Got2 Location: Chr8:96590761-96615029 bp, - strand Genetic Position: Chr8, 47.79 cM
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Alliance: |
Got2em1Pcamp page
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Strain of Origin: |
either: C57BL/6J or (C57BL/6 x C3H)F1
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Allele Type: |
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Endonuclease-mediated (Null/knockout) |
Mutation: |
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Not Specified
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Mutation details: Exon 8 was targeted with an sgRNA (targeting TCCTGACTTCTCCAGACTTG) and an ssODN template (CCGTCCCCTGTATTCCAACCCACCTCTCAATGGGGCCCGGATCGCAGCAACCATTCTGACGTCTCCGGATTTAGGTAAGCAATGGTAACGATTACTAGCTGTTCCGTGCTACAGCTCCATGAATGGAAAAG) using CRISPR/Cas9 technology with the aim to create a p.R337G mutation. The actual result was an unintended insertion/duplication of a single T (A on forward strand, after chr8:96596111 (GRCm39)), which results in a frameshift and premature stop codon.
(J:291216)
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View phenotypes and curated references for all genotypes (concatenated display).
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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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Carrying any Got2 Mutation: |
26 strains or lines available
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Original: |
J:291216 van Karnebeek CDM, et al., Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy. Am J Hum Genet. 2019 Sep 5;105(3):534-548 |
All: |
1 reference(s) |
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