Bdh1 MGI Mouse Gene Detail - MGI:1919161 - 3-hydroxybutyrate dehydrogenase, type 1

Symbol

Bdh1
Name

3-hydroxybutyrate dehydrogenase, type 1
Synonyms

2310032J20Rik, Bdh

Feature Type

protein coding gene
IDs

MGI:1919161
NCBI Gene: 71911
Gene Overview

MyGene.info: BDH1
Alliance

gene page
Transcription Start Sites

11 TSS

Sequence Map

Chr16:31422297-31458901 bp, + strand
From NCBI annotation of GRCm38

View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 16, 21.74 cM
Mapping Data

2 experiments

SNPs within 2kb

296 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1919161	protein coding gene	Chr16:31422280-31458901 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0022720	protein coding gene	Chr16:29390830-29440436 (+)
A/J	MGP_AJ_G0022685	protein coding gene	Chr16:28046056-28083731 (+)
AKR/J	MGP_AKRJ_G0022658	protein coding gene	Chr16:29092852-29130536 (+)
BALB/cJ	MGP_BALBcJ_G0022687	protein coding gene	Chr16:28200742-28237740 (+)
C3H/HeJ	MGP_C3HHeJ_G0022452	protein coding gene	Chr16:29195004-29237055 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0023136	protein coding gene	Chr16:30020219-30065485 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0020654	protein coding gene	Chr16:28428684-28464598 (+)
CAST/EiJ	MGP_CASTEiJ_G0021980	protein coding gene	Chr16:29302433-29338658 (+)
CBA/J	MGP_CBAJ_G0022422	protein coding gene	Chr16:31276215-31329467 (+)
DBA/2J	MGP_DBA2J_G0022555	protein coding gene	Chr16:27902076-27941155 (+)
FVB/NJ	MGP_FVBNJ_G0022530	protein coding gene	Chr16:27877578-27914048 (+)
LP/J	MGP_LPJ_G0022622	protein coding gene	Chr16:29192049-29228320 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0022549	protein coding gene	Chr16:30759422-30801198 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0023148	protein coding gene	Chr16:29037999-29076078 (+)
PWK/PhJ	MGP_PWKPhJ_G0021719	protein coding gene	Chr16:28210365-28247615 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0021550	protein coding gene	Chr16:28818363-28861484 (+)
WSB/EiJ	MGP_WSBEiJ_G0022024	protein coding gene	Chr16:28976964-29018848 (+)

Human Ortholog

BDH1, 3-hydroxybutyrate dehydrogenase 1

Vertebrate Orthologs

10

Human Ortholog

BDH1, 3-hydroxybutyrate dehydrogenase 1
Orthology source: HomoloGene, HGNC
Synonyms

BDH, SDR9C1
Links

HGNC:1027

NCBI Gene ID: 622

neXtProt AC: NX_Q02338

UniProt: Q02338
Chr Location

3q29; chr3:197509783-197573323 (-) GRCh38.p7

HomoloGene

Vertebrate Homology Class 20860
1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
HCOP

human homology predictions: BDH1
Gene Tree

Bdh1

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Phenotype Summary

3 phenotypes from 1 allele in 1 genetic background
10 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	vision/eye

Click cells to view annotations.

All Mutations and Alleles

12
Endonuclease-mediated

1
Gene trapped

7
Targeted

4
Genomic Mutations

1 involving Bdh1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

7 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a conditional allele activated in cardiac cells exhibit partial postnatal lethality and increased heart failure following fasting or TAC/MI.

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All GO Annotations

12
GO References

7

External Resources

FuncBase

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell death	cell differentiation	cell population proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	nucleic acid-templated transcription	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

952
Tissues

123
cDNA Data

106
Literature Summary

7

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA BDH1A

ZFIN bdh1

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Bdh1 interacts with 203 markers (Mir9-1, Mir9-2, Mir9-3, ...) View All

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All Sequences

60
RefSeq

6
UniProt

4
CCDS

CCDS28106.1
UniGene

293470

Ensembl

ENSMUSG00000046598 (Evidence)
NCBI Gene

71911

			Length	Strain/Species	Flank
genomic	71911	NCBI Gene Model \| MGI Sequence Detail	36605	C57BL/6J	± kb
transcript	NM_001122683	RefSeq \| MGI Sequence Detail	3133	C57BL/6
polypeptide	Q80XN0	UniProt \| EBI \| MGI Sequence Detail	343	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000004714 D-beta-hydroxybutyrate dehydrogenase, mitochondrial

(term hierarchy)
EC

1.1.1.30
InterPro Domains

IPR036291 NAD(P)-binding domain superfamily

IPR020904 Short-chain dehydrogenase/reductase, conserved site

IPR002347 Short-chain dehydrogenase/reductase SDR

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All nucleic 107

cDNA 106

Primer pair 1

Microarray probesets 4

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MGI:2146421

Summaries

All 48

Developmental Gene Expression 7

Gene Ontology 7

Phenotypes 10
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:294800 Sasaki K, et al., Ectopic expression of DNA methyltransferases DNMT3A2 and DNMT3L leads to aberrant hypermethylation and postnatal lethality in mice. Mol Reprod Dev. 2019 Jun;86(6):614-623

TSS for Bdh1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr137893	Chr16:31422268-31422278 (+)	-24 bp
Tssr137894	Chr16:31422288-31422308 (+)	1 bp
Tssr137895	Chr16:31422315-31422347 (+)	34 bp
Tssr137896	Chr16:31428745-31428755 (+)	6,453 bp
Tssr137897	Chr16:31428757-31428762 (+)	6,463 bp
Tssr137898	Chr16:31428764-31428837 (+)	6,504 bp
Tssr137899	Chr16:31428870-31428881 (+)	6,579 bp
Tssr137900	Chr16:31428893-31428902 (+)	6,601 bp
Tssr137901	Chr16:31450197-31450210 (+)	27,907 bp
Tssr137902	Chr16:31450229-31450238 (+)	27,937 bp
Tssr137906	Chr16:31456655-31456680 (+)	34,371 bp

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)
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 01/12/2021 MGI 6.16