Got2em3Pcamp
Endonuclease-mediated Allele Detail
|
Symbol: |
Got2em3Pcamp |
Name: |
glutamatic-oxaloacetic transaminase 2, mitochondrial; endonuclease-mediated mutation 3, Philippe Campeau |
MGI ID: |
MGI:7464273 |
Synonyms: |
Got2emhL209del |
Gene: |
Got2 Location: Chr8:96590761-96615029 bp, - strand Genetic Position: Chr8, 47.79 cM
|
Alliance: |
Got2em3Pcamp page
|
|
|
Allele Type: |
|
Endonuclease-mediated (Not Specified) |
Mutations: |
|
Intragenic deletion, Nucleotide substitutions
|
|
|
Mutation details: Exon 6 was targeted with an sgRNA (targeting GGTTGTGAGCGCAGGCATGC) and an ssODN template (ACAGCCAAAAATCTCGATTGTTTCTCCTTAGAAAATCCCAGAGCAGAGTGTCTTATTACACGCATGTGCACACAACCCCACCGGCGTGGACCCGCGTCCCGAGCAGTGGAAGGAGATAGCGTCCG) using CRISPR/Cas9 technology to delete one of leucine codons 207, 208 or 209 (p.L209del). The equivalent human mutation (p.Leu209del, NM_002080.2:c.624_626delTCT) is found in some Malate-Aspartate Shuttle (MAS)-Related Encephalopathy patients.
(J:291216)
|
|
|
View phenotypes and curated references for all genotypes (concatenated display).
|
|
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
|
Carrying any Got2 Mutation: |
26 strains or lines available
|
|
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) |
|