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Dhtkd1tm1Mmgu
Targeted Allele Detail
Summary
Symbol: Dhtkd1tm1Mmgu
Name: dehydrogenase E1 and transketolase domain containing 1; targeted mutation 1, Ming-min Gu
MGI ID: MGI:6441735
Synonyms: Dhtkd1Y486*
Gene: Dhtkd1  Location: Chr2:5901030-5947648 bp, - strand  Genetic Position: Chr2, 3.62 cM
Alliance: Dhtkd1tm1Mmgu page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:288186
Parent Cell Line:  Other (see notes) (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Single point mutation
 
Mutation detailsA tyrosine to STOP codon at amino acid 486 (p.Y486*) was introduced in exon 8 and part of the intron between exon 8 and exon 9 was replaced with a PGK-neomycin cassette. RT-PCR and Western blot analysis indicates very low mRNA and protein expression, respectively, in homozygotes. The Y486* mutation is equivalent to the Y485* mutation seen in individuals with Charcot-Marie-Tooth disease type 2Q. (J:288186)
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: 2 anatomical structure(s)
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:  48 strains or lines available
Notes
ES cell: SCR012
References
Original:  J:288186 Luan CJ, et al., CMT2Q-causing mutation in the Dhtkd1 gene lead to sensory defects, mitochondrial accumulation and altered metabolism in a knock-in mouse model. Acta Neuropathol Commun. 2020 Mar 13;8(1):32
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
11/12/2024
MGI 6.24
The Jackson Laboratory