Mbtd1 MGI Mouse Gene Detail - MGI:2143977

Symbol

Mbtd1
Name

mbt domain containing 1
Synonyms

hemp

Feature Type

protein coding gene
IDs

MGI:2143977
NCBI Gene: 103537
Alliance

gene page
Transcription Start Sites

10 TSS

Sequence Map

Chr11:93776678-93837811 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 58.86 cM
Mapping Data

2 experiments

SNPs within 2kb

1252 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2143977	protein coding gene	Chr11:93776635-93837815 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0018945	protein coding gene	Chr11:95913965-95975069 (+)
A/J	MGP_AJ_G0018913	protein coding gene	Chr11:92114723-92177552 (+)
AKR/J	MGP_AKRJ_G0018883	protein coding gene	Chr11:94986525-95050702 (+)
BALB/cJ	MGP_BALBcJ_G0018886	protein coding gene	Chr11:92541576-92603834 (+)
C3H/HeJ	MGP_C3HHeJ_G0018700	protein coding gene	Chr11:95058579-95122580 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0019338	protein coding gene	Chr11:98906681-98970996 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016969	protein coding gene	Chr11:89603393-89668043 (+)
CAST/EiJ	MGP_CASTEiJ_G0018255	protein coding gene	Chr11:95741386-95805725 (+)
CBA/J	MGP_CBAJ_G0018671	protein coding gene	Chr11:103016076-103081846 (+)
DBA/2J	MGP_DBA2J_G0018779	protein coding gene	Chr11:91677583-91740783 (+)
FVB/NJ	MGP_FVBNJ_G0018768	protein coding gene	Chr11:91096789-91159185 (+)
LP/J	MGP_LPJ_G0018849	protein coding gene	Chr11:96462335-96532282 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0018795	protein coding gene	Chr11:103071923-103131922 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0019378	protein coding gene	Chr11:95171935-95234245 (+)
PWK/PhJ	MGP_PWKPhJ_G0018025	protein coding gene	Chr11:92598030-92658869 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0017815	protein coding gene	Chr11:94863043-94916861 (+)
WSB/EiJ	MGP_WSBEiJ_G0018304	protein coding gene	Chr11:95055376-95119233 (+)

Human Ortholog

MBTD1, mbt domain containing 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

MBTD1, mbt domain containing 1
Synonyms

SA49P01
Links

HGNC:19866

NCBI Gene ID: 54799

neXtProt AC: NX_Q05BQ5

UniProt: Q05BQ5
Chr Location

17q21.33; chr17:51177425-51260958 (-) GRCh38

MGI Vertebrate Homology

Mbtd1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: MBTD1
Gene Tree

Mbtd1

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References

1 with disease annotations

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Phenotype Summary

20 phenotypes from 2 alleles in 2 genetic backgrounds
23 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	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

52
Endonuclease-mediated

2
Gene trapped

43
Targeted

7
Genomic Mutations

3 involving Mbtd1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

86 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit neonatal lethality and severe abnormalities in hematopoietic stem cell function and skeletal formation.

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All GO Annotations

28
GO References

11

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 differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	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	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	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

754
Tissues

38
cDNA Data

21
Literature Summary

8

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase mbtd1

ZFIN mbtd1

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All Sequences

172
RefSeq

100
UniProt

8
CCDS

CCDS48883.1, CCDS83868.1

Ensembl

ENSMUSG00000059474 (Evidence)
NCBI Gene

103537

			Length	Strain/Species	Flank
genomic	ENSMUSG00000059474	Ensembl Gene Model \| MGI Sequence Detail	61134	C57BL/6J	± kb
transcript	ENSMUST00000107853	Ensembl \| MGI Sequence Detail	5245	Not Applicable
polypeptide	ENSMUSP00000103485	Ensembl \| MGI Sequence Detail	631	Not Applicable

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UniProt

8 Sequences
Protein Ontology

PR:000029622 MBT domain-containing protein 1

(term hierarchy)
InterPro Domains

IPR038603 FCS-type zinc finger superfamily

IPR004092 Mbt repeat

IPR050548 Polycomb group and chromatin remodeling factors

IPR012313 Zinc finger, FCS-type

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All nucleic 25

cDNA 22

Primer pair 2

Other 1

Microarray probesets 5

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MGI:2144082

Summaries

All 60

Developmental Gene Expression 8

Diseases 1

Gene Ontology 11

Phenotypes 23
Earliest

J:56548 Zheng B, et al., Engineering a mouse balancer chromosome. Nat Genet. 1999 Aug;22(4):375-8
Latest

J:350444 Martinez-Mayer J, et al., Knockout mice with pituitary malformations help identify human cases of hypopituitarism. Genome Med. 2024 May 31;16(1):75

TSS for Mbtd1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr104149	Chr11:93775928-93775967 (+)	-730 bp
Tssr104150	Chr11:93776097-93776115 (+)	-572 bp
Tssr3641	Chr11:93776650-93776703 (+)	-1 bp
Tssr104151	Chr11:93776710-93776750 (+)	52 bp
Tssr104152	Chr11:93776963-93776980 (+)	294 bp
Tssr104153	Chr11:93776983-93777036 (+)	332 bp
Tssr104154	Chr11:93777055-93777060 (+)	380 bp
Tssr104155	Chr11:93777071-93777085 (+)	400 bp
Tssr104156	Chr11:93789447-93789450 (+)	12,771 bp
Tssr104157	Chr11:93815308-93815325 (+)	38,639 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, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/19/2024 MGI 6.24