Barhl1 MGI Mouse Gene Detail - MGI:1859288

Symbol

Barhl1
Name

BarH like homeobox 1
Synonyms

Dres115, MBH2

Feature Type

protein coding gene
IDs

MGI:1859288
NCBI Gene: 54422
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr2:28797691-28806680 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 19.38 cM
Mapping Data

3 experiments

SNPs within 2kb

196 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1859288	protein coding gene	Chr2:28797691-28807996 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0025534	protein coding gene	Chr2:26995537-27004496 (-)
A/J	MGP_AJ_G0025511	protein coding gene	Chr2:25964953-25973928 (-)
AKR/J	MGP_AKRJ_G0025481	protein coding gene	Chr2:26822456-26831389 (-)
BALB/cJ	MGP_BALBcJ_G0025507	protein coding gene	Chr2:26086923-26095888 (-)
C3H/HeJ	MGP_C3HHeJ_G0025268	protein coding gene	Chr2:26746283-26755239 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0025951	protein coding gene	Chr2:27887795-27896752 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0023361	protein coding gene	Chr2:24780643-24789615 (-)
CAST/EiJ	MGP_CASTEiJ_G0024731	protein coding gene	Chr2:26653527-26663750 (-)
CBA/J	MGP_CBAJ_G0025246	protein coding gene	Chr2:28837819-28847103 (-)
DBA/2J	MGP_DBA2J_G0025379	protein coding gene	Chr2:25773778-25782739 (-)
FVB/NJ	MGP_FVBNJ_G0025341	protein coding gene	Chr2:25567682-25576635 (-)
LP/J	MGP_LPJ_G0025465	protein coding gene	Chr2:26936105-26945083 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0025372	protein coding gene	Chr2:28843371-28852363 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0026010	protein coding gene	Chr2:26739652-26748611 (-)
PWK/PhJ	MGP_PWKPhJ_G0024478	protein coding gene	Chr2:25585340-25594440 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0024278	protein coding gene	Chr2:26871894-26880844 (-)
WSB/EiJ	MGP_WSBEiJ_G0024800	protein coding gene	Chr2:26875073-26884014 (-)

Human Ortholog

BARHL1, BarH like homeobox 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

BARHL1, BarH like homeobox 1
Links

HGNC:953

NCBI Gene ID: 56751

neXtProt AC: NX_Q9BZE3

UniProt: Q9BZE3
Chr Location

9q34.13; chr9:132582606-132590252 (+) GRCh38

MGI Vertebrate Homology

Barhl1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: BARHL1
Gene Tree

Barhl1

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Phenotype Summary

7 phenotypes from 1 allele in 1 genetic background
9 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

6
Endonuclease-mediated

2
Targeted

4
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

23 strains or lines available

Homozygous mutation of this gene results in progressive hearing loss starting at 2 weeks of age. Animals are completely deaf by 10 months of age and show degeneration of the inner and outer cochlear hair cells.

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All GO Annotations

16
GO References

7

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

1100
Tissues

152
cDNA Data

17
Literature Summary

62

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

Xenbase barhl1

ZFIN barhl1a, barhl1b

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All Sequences

61
RefSeq

20
UniProt

2
CCDS

CCDS15849.1

Ensembl

ENSMUSG00000026805 (Evidence)
NCBI Gene

54422

			Length	Strain/Species	Flank
genomic	ENSMUSG00000026805	Ensembl Gene Model \| MGI Sequence Detail	8990	C57BL/6J	± kb
transcript	ENSMUST00000050776	Ensembl \| MGI Sequence Detail	3666	Not Applicable
polypeptide	ENSMUSP00000053147	Ensembl \| MGI Sequence Detail	327	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000004643 BarH-like 1 homeobox protein

(term hierarchy)
InterPro Domains

IPR017970 Homeobox, conserved site

IPR001356 Homeobox domain

IPR050848 Homeobox domain-containing transcription factors

IPR020479 Homeobox domain, metazoa

IPR009057 Homeobox-like domain superfamily

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All nucleic 22

cDNA 17

Other 5

Microarray probesets 3

Summaries

All 90

Developmental Gene Expression 62

Gene Ontology 7

Phenotypes 9
Earliest

J:51411 Bulfone A, et al., The embryonic expression pattern of 40 murine cDNAs homologous to Drosophila mutant genes (Dres): a comparative and topographic approach to predict gene function. Hum Mol Genet. 1998 Dec;7(13):1997-2006
Latest

J:352993 Krishnamurthy A, et al., Engrailed transcription factors direct excitatory cerebellar neuron diversity and survival. Development. 2024 Jul 15;151(14):dev202502

TSS for Barhl1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr23300	Chr2:28807996-28808019 (-)	-1,328 bp
Tssr23299	Chr2:28806639-28806647 (-)	37 bp
Tssr23298	Chr2:28805872-28805905 (-)	791 bp
Tssr23297	Chr2:28805844-28805858 (-)	829 bp
Tssr23296	Chr2:28805548-28805584 (-)	1,114 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 12/10/2024 MGI 6.24