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Dhtkd1tm1Zgwg
Targeted Allele Detail
Nomenclature
Symbol: Dhtkd1tm1Zgwg
Name: dehydrogenase E1 and transketolase domain containing 1; targeted mutation 1, Zhugang Wang
MGI ID: MGI:6260051
Gene: Dhtkd1  Location: Chr2:5896219-5942829 bp, - strand  Genetic Position: Chr2, 3.62 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:267178
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA PGK-Neomycin cassette replaced exons 2-4 via homologous recombination. RT-PCR confirmed absence of mRNA in liver and kidney and Western blot analysis confirmed absence of protein in liver and kidney. (J:267178)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 9 anatomical structures
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:  31 strains or lines available
References
Original:  J:267178 Xu WY, et al., DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice. Mol Cell Biol. 2018 Jul 1;38(13)
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
02/23/2021
MGI 6.16
The Jackson Laboratory