Search our database by keyword

Examples

Search this entire website. Enter identifiers, names or keywords for genes, diseases, strains, ontology terms, etc. (e.g. Pax6, Parkinson, ataxia)
Use OR to search for either of two terms (e.g. OR mus) or quotation marks to search for phrases (e.g. "dna binding").
Boolean search syntax is supported: e.g. Balb* for partial matches or mus AND NOT embryo to exclude a term

Search results 401 to 439 out of 439 for Cblc

<< First < Previous | Next > Last >>

0.032s

Type

Details

Score

Allele

Mmachc<Gt(IST14343C3)Tigm> | MGI:5226484

Name:	methylmalonic aciduria cblC type, with homocystinuria; gene trap IST14343C3, Texas A&M Institute for Genomic Medicine
Allele Type:	Gene trapped

•

Allele

Mmachc<Gt(IST14941H8)Tigm> | MGI:5271608

Name:	methylmalonic aciduria cblC type, with homocystinuria; gene trap IST14941H8, Texas A&M Institute for Genomic Medicine
Allele Type:	Gene trapped

•

Strain

MGI:5797083 | C57BL/6N-Mmachc<tm1.1(NCOM)Mfgc>/Tcp

Attribute String:

coisogenic, targeted mutation

•

Strain

MGI:7570302 | B6N;129-Mmachc<tm1.1Pg>/Ieg

Attribute String:

mutant stock, targeted mutation

•

Strain

MGI:7589993 | C57BL/6J-Mmachc<em2Cya>/Cya

Attribute String:

coisogenic, endonuclease-mediated mutation, mutant strain

•

Strain

MGI:7788745 | C57BL/6JSmoc-Mmachc<tm1Smoc>/Smoc

Attribute String:

coisogenic, mutant strain, targeted mutation

•

Strain

MGI:7837764 | C57BL/6N-Mmachc<em1Cya>/Cya

Attribute String:

coisogenic, endonuclease-mediated mutation, mutant strain

•

Genotype

Symbol:	Mmachc/Mmachc
Background:	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6 * CD-1
Zygosity:	hm
Has Mutant Allele:	true

•

Genotype

Symbol:	Mmachc/Mmachc
Background:	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6
Zygosity:	hm
Has Mutant Allele:	true

•

Genotype

Symbol:	Mmachc/Mmachc
Background:	involves: C57BL/6J * FVB/N
Zygosity:	hm
Has Mutant Allele:	true

•

Genotype

Symbol:	Mmachc/Mmachc
Background:	C57BL/6N-Mmachc/Tcp
Zygosity:	hm
Has Mutant Allele:	true

•

Publication

21536470 | J:174811

First Author:	Pupavac M
Year:	2011
Journal:	Mol Genet Metab
Title:	Expression of Mmachc and Mmadhc during mouse organogenesis.
Volume:	103
Issue:	4
Pages:	401-5

•

Strain

MGI:6491476 | C57BL/6-Mmachc<tm1.1(NCOM)Mfgc> Tg(CAG-Mmachc,-GFP)1Poche

Attribute String:

transgenic, targeted mutation, mutant strain, coisogenic

•

Genotype

Symbol:	Mmachc/Mmachc Tg(CAG-Mmachc,-GFP)1Poche/?
Background:	C57BL/6-Mmachc Tg(CAG-Mmachc,-GFP)1Poche
Zygosity:	cx
Has Mutant Allele:	true

•

HT Experiment

GSE161763 | CblX disease is both an inborn error of cobalamin metabolism and a ribosomopathy


Experiment Type:	RNA-Seq
Study Type:	WT vs. Mutant
Source:	GEO

•

Genotype

Symbol:	Mmachc/Mmachc<+>
Background:	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6 * CD-1
Zygosity:	ht
Has Mutant Allele:	true

•

Genotype

Symbol:	Mmachc/Mmachc E2f1/E2f1<+>
Background:	involves: 129S4/SvJae * C3H * C57BL/6 * C57BL/6J
Zygosity:	cn
Has Mutant Allele:	true

•

Genotype

Symbol:	Mmachc/Mmachc<+>
Background:	C57BL/6N-Mmachc/Tcp
Zygosity:	ht
Has Mutant Allele:	true

•

Publication

34050187 | J:307868

First Author:	Mohammed Y
Year:	2021
Journal:	NPJ Syst Biol Appl
Title:	Proteotyping of knockout mouse strains reveals sex- and strain-specific signatures in blood plasma.
Volume:	7
Issue:	1
Pages:	25

•

Publication

32251422 | J:288301

First Author:	Mu Y
Year:	2020
Journal:	PLoS Genet
Title:	O-linked β-N-acetylglucosamine transferase plays an essential role in heart development through regulating angiopoietin-1.
Volume:	16
Issue:	4
Pages:	e1008730

•

Publication

36737727 | J:333098

First Author:	Chee JM
Year:	2023
Journal:	BMC Biol
Title:	Genome-wide screening reveals the genetic basis of mammalian embryonic eye development.
Volume:	21
Issue:	1
Pages:	22

•

Publication

18779575 | -

First Author:	Kim J
Year:	2008
Journal:	Proc Natl Acad Sci U S A
Title:	Decyanation of vitamin B12 by a trafficking chaperone.
Volume:	105
Issue:	38
Pages:	14551-4

•

Protein Domain

IPR032037 | MMACHC

Type:

Family

Description:

MMACHC, also known as Cyanocobalamin reductase / alkylcobalamin dealkylase, is involved in the intracellular processing of vitamin B12 by catalyzing two reactions: the reductive decyanation of cyanocobalamin in the presence of a flavoprotein oxidoreductase and the dealkylation of alkylcobalamins through the nucleophilic displacement of the alkyl group by glutathione [, ]. Mutations in the MMACHC gene have been linked to a disease known as Methylmalonic aciduria and homocystinuria, cblC type (OMIM 277400), the most common inborn error of vitamin B(12) (cobalamin) metabolism. The C-terminal region of this protein folds similarly to TonB, a bacterial protein involved in energy transduction for cobalamin uptake [].The structure of MMACHC reveals it to be the most divergent member of the NADPH-dependent flavin reductase family that can use FMN or FAD to catalyze reductive decyanation; it is also the first enzyme with glutathione transferase (GST) activity that is unrelated to the GST superfamily in structure and sequence [].

•

Publication

32871076 | J:312344

First Author:	Li Z
Year:	2020
Journal:	J Am Chem Soc
Title:	An Interprotein Co-S Coordination Complex in the B₁₂-Trafficking Pathway.
Volume:	142
Issue:	38
Pages:	16334-16345

•

Publication

34702858 | J:312368

First Author:	Imbard A
Year:	2021
Journal:	Sci Rep
Title:	Liver and brain differential expression of one-carbon metabolism genes during ontogenesis.
Volume:	11
Issue:	1
Pages:	21132

•

Publication

26876175 | J:301859

First Author:	Poché RA
Year:	2016
Journal:	Cell Rep
Title:	RONIN Is an Essential Transcriptional Regulator of Genes Required for Mitochondrial Function in the Developing Retina.
Volume:	14
Issue:	7
Pages:	1684-1697

•

Publication

- | J:169366

First Author:	MouseBook^TM
Year:	2005
Journal:	Unpublished
Title:	Information obtained from MouseBook^TM, Medical Research Council Mammalian Genetics Unit, Harwell, UK.

•

Publication

- | J:165964

First Author:	Mammalian Functional Genomics Centre
Year:	2010
Journal:	MGI Direct Data Submission
Title:	Alleles produced for the NorCOMM project by the Mammalian Functional Genomics Centre (Mfgc), University of Manitoba

•

Publication

18614015 | J:151002

First Author:	Pagliarini DJ
Year:	2008
Journal:	Cell
Title:	A mitochondrial protein compendium elucidates complex I disease biology.
Volume:	134
Issue:	1
Pages:	112-23

•

Publication

17967808 | J:152068

First Author:	Friedel RH
Year:	2007
Journal:	Brief Funct Genomic Proteomic
Title:	EUCOMM--the European conditional mouse mutagenesis program.
Volume:	6
Issue:	3
Pages:	180-5

•

Publication

- | J:204812

First Author:	International Mouse Strain Resource
Year:	2014
Journal:	Database Download
Title:	MGI download of germline transmission data for alleles from IMSR strain data

•

Publication

12520002 | J:91812

First Author:	Stryke D
Year:	2003
Journal:	Nucleic Acids Res
Title:	BayGenomics: a resource of insertional mutations in mouse embryonic stem cells.
Volume:	31
Issue:	1
Pages:	278-81

•

Publication

- | J:238766

First Author:	Shanghai Model Organisms Center
Year:	2017
Journal:	MGI Direct Data Submission
Title:	Information obtained from the Shanghai Model Organisms Center (SMOC), Shanghai, China

•

Publication

- | J:211773

First Author:	Mouse Genome Informatics and the International Mouse Phenotyping Consortium (IMPC)
Year:	2014
Journal:	Database Release
Title:	Obtaining and Loading Phenotype Annotations from the International Mouse Phenotyping Consortium (IMPC) Database

•

Publication

38355793 | J:345621

First Author:	Adams DJ
Year:	2024
Journal:	Nature
Title:	Genetic determinants of micronucleus formation in vivo.
Volume:	627
Issue:	8002
Pages:	130-136

•

Publication

- | J:326541

First Author:	Cyagen Biosciences Inc.
Year:	2022

Title:	Cyagen Biosciences Website.

•

Publication

18799693 | J:142754

First Author:	Hansen GM
Year:	2008
Journal:	Genome Res
Title:	Large-scale gene trapping in C57BL/6N mouse embryonic stem cells.
Volume:	18
Issue:	10
Pages:	1670-9

•

Publication

- | J:342587

First Author:	AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators
Year:	2011

Title:	Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity

•

Publication

- | J:23000

First Author:	MGD Nomenclature Committee
Year:	1995

Title:	Nomenclature Committee Use

•

Questions? Comments? Click here!

MouseMine is a collaboration between MGI at The Jackson Laboratory and the InterMine project at the Cambridge Systems Biology Centre. MouseMine is funded through a grant from the NIH/NHGRI.The Jackson Laboratory makes no representation about the suitability or accuracy of this software or data for any purpose, and makes no warranties, either express or implied, including merchantability and fitness for a particular purpose or that the use of this software or data will not infringe any third party patents, copyrights, trademarks, or other rights. the software and data are provided "as is". This software and data are provided to enhance knowledge and encourage progress in the scientific community and are to be used only for research and educational purposes. Any reproduction or use for commercial purpose is prohibited without the prior express written permission of the Jackson Laboratory.

Your name:
Your email address:
Subject:
Message:	---- Current page: ---- /mousemine/keywordSearchResults.do?searchOffset=400&searchTerm=Cblc

MouseMine

Search our database by keyword

Examples

Search results 401 to 439 out of 439 for Cblc

Categories

Hits by Pathway

Hits by Category

Hits by Strain