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Endonuclease-mediated Allele Detail
Symbol: Dhtkd1em1Hpr
Name: dehydrogenase E1 and transketolase domain containing 1; endonuclease-mediated mutation 1, Holger Prokisch
MGI ID: MGI:6268324
Gene: Dhtkd1  Location: Chr2:5901030-5947648 bp, - strand  Genetic Position: Chr2, 3.62 cM
Alliance: Dhtkd1em1Hpr page
Strain of Origin:  (FVB/N x C57BL/6N)F1
Allele Type:    Endonuclease-mediated (Null/knockout)
Mutation:    Intragenic deletion
Mutation detailsTALEN technology generated a 19 bp deletion (c.1258_127del) in exon 7. This deletion is predicted to result in a premature stop codon at amino acid 431 and resembles the patient variant p.Arg410*. Western blot analysis confirmed absence of protein in homozygotes. (J:256227)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Find Mice (IMSR)
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 Dhtkd1 Mutation:  33 strains or lines available
Original:  J:256227 Biagosch C, et al., Elevated glutaric acid levels in Dhtkd1-/Gcdh- double knockout mice challenge our current understanding of lysine metabolism. Biochim Biophys Acta. 2017 Sep;1863(9):2220-2228
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
MGI 6.22
The Jackson Laboratory