Mitf MGI Mouse Gene Detail - MGI:104554 - melanogenesis associated transcription factor

Symbol

Mitf
Name

melanogenesis associated transcription factor
Synonyms

BCC2, bHLHe32, Gsfbcc2, mi, wh

Feature Type

protein coding gene
IDs

MGI:104554
NCBI Gene: 17342
Alliance

gene page
Transcription Start Sites

97 TSS

Sequence Map

Chr6:97784013-97998310 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 6, 45.05 cM
Mapping Data

38 experiments

SNPs within 2kb

5306 from dbSNP Build 142
Strain Annotations

18
PCR

1
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_104554	protein coding gene	Chr6:97783966-97998321 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0031078	protein coding gene	Chr6:99667862-99886029 (+)
A/J	MGP_AJ_G0031047	protein coding gene	Chr6:95891480-96118821 (+)
AKR/J	MGP_AKRJ_G0030978	protein coding gene	Chr6:98512364-98729549 (+)
BALB/cJ	MGP_BALBcJ_G0031058	protein coding gene	Chr6:95856215-96066674 (+)
C3H/HeJ	MGP_C3HHeJ_G0030650	protein coding gene	Chr6:85686337-85900032 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0031517	protein coding gene	Chr6:102196940-102420658 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0028681	protein coding gene	Chr6:93745615-93952206 (+)
CAST/EiJ	MGP_CASTEiJ_G0030165	protein coding gene	Chr6:98717207-98936261 (+)
CBA/J	MGP_CBAJ_G0030744	protein coding gene	Chr6:106079709-106304855 (+)
DBA/2J	MGP_DBA2J_G0030897	protein coding gene	Chr6:95033854-95242160 (+)
FVB/NJ	MGP_FVBNJ_G0030851	protein coding gene	Chr6:94206573-94415284 (+)
LP/J	MGP_LPJ_G0030977	protein coding gene	Chr6:99705773-99931272 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0030885	protein coding gene	Chr6:109988177-110212481 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0031544	protein coding gene	Chr6:98405888-98625684 (+)
PWK/PhJ	MGP_PWKPhJ_G0029881	protein coding gene	Chr6:94016317-94226985 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0029709	protein coding gene	Chr6:97304097-97530624 (+)
WSB/EiJ	MGP_WSBEiJ_G0030249	protein coding gene	Chr6:98889762-99112156 (+)

Human Ortholog

MITF, melanocyte inducing transcription factor

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

MITF, melanocyte inducing transcription factor
Synonyms

bHLHe32, CMM8, COMMAD, MI, MITF-A, WS2, WS2A
Links

HGNC:7105

NCBI Gene ID: 4286

neXtProt AC: NX_O75030

UniProt: O75030
Chr Location

3p13; chr3:69739456-69968336 (+) GRCh38

MGI Vertebrate Homology

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

vertebrate homology predictions: MITF
Gene Tree

Mitf

Diseases

6 with Mitf mouse models; 5 with human MITF associations

Human Disease

Mouse Models

Tietz syndrome

IDs

View 14 models

Waardenburg syndrome type 2A

IDs

View 14 models

Camurati-Engelmann disease

IDs

View 1 model

ocular albinism with sensorineural deafness

IDs

View 14 models

osteopetrosis

IDs

View 1 model

Waardenburg syndrome type 1

IDs

View 1 model

familial melanoma

IDs

Tietze's syndrome

IDs

Waardenburg syndrome

IDs

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

11 with disease annotations

References

10 with disease annotations

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Phenotype Summary

129 phenotypes from 38 alleles in 39 genetic backgrounds
34 phenotypes from multigenic genotypes
7 images
217 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

56
Chemically induced (ENU)

8
Endonuclease-mediated

7
Gene trapped

2
Radiation induced

3
Spontaneous

14
Targeted

18
Transgenic

3
Genomic Mutations

1 involving Mitf
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

74 strains or lines available
Comparison Matrix

Gene Expression + Phenotype
Recombinase Activity

Comparison Matrix Gene Expression + Recombinase Activity

Mutations at this locus affect development of melanocytes, mast cells, osteoclasts and pigmented epithelium. Mutants variably display lack of pigment in coat and eye, microphthalmia, hearing loss, bone resorption anomalies, mast cell deficiency and lethality.

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All GO Annotations

68
GO References

19

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

1378
Tissues

234
cDNA Data

27
Literature Summary

147

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA MITF

Xenbase mitf

ZFIN mitfa, mitfb

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All Sequences

118
RefSeq

48
UniProt

11
CCDS

CCDS20385.1, CCDS51861.1, CCDS51862.1

Ensembl

ENSMUSG00000035158 (Evidence)
NCBI Gene

17342

			Length	Strain/Species	Flank
genomic	ENSMUSG00000035158	Ensembl Gene Model \| MGI Sequence Detail	214298	C57BL/6J	± kb
transcript	ENSMUST00000043637	Ensembl \| MGI Sequence Detail	4881	Not Applicable
polypeptide	ENSMUSP00000044938	Ensembl \| MGI Sequence Detail	526	Not Applicable

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UniProt

11 Sequences
Protein Ontology

PR:000010423 microphthalmia-associated transcription factor

(term hierarchy)
PDB

4ATH, 4ATI, 4ATK, 6FX5, 6G1L
InterPro Domains

IPR036638 Helix-loop-helix DNA-binding domain superfamily

IPR021802 MiT/TFE transcription factors, C-terminal

IPR031867 MiT/TFE transcription factors, N-terminal

IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain
GlyGen

Q08874 3 sites, 1 O-linked glycan (3 sites)

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All nucleic 55

Genomic 9

cDNA 29

Primer pair 9

Other 8

Microarray probesets 5

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MGD-MRK-12229, MGD-MRK-15399, MGD-MRK-1691, MGD-MRK-25986, MGI:3530596

Summaries

All 510

Developmental Gene Expression 147

Diseases 10

Gene Ontology 19

Phenotypes 217
Earliest

J:208 Hertwig P, Neue Mutationen und Koppelungsgruppen bei der Hausmaus. Z Indukt Abstamm Vererbungsl. 1942;80(1):220-246
Latest

J:357839 Nasim S, et al., Multiple cell types including melanocytes contribute to elastogenesis in the developing murine aortic valve. Sci Rep. 2024 Oct 26;14(1):25481

TSS for Mitf:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr57862	Chr6:97783975-97784028 (+)	-11 bp
Tssr57863	Chr6:97784034-97784045 (+)	27 bp
Tssr57864	Chr6:97784607-97784629 (+)	605 bp
Tssr57865	Chr6:97784859-97784875 (+)	854 bp
Tssr57866	Chr6:97803897-97803930 (+)	19,901 bp
Tssr57867	Chr6:97804195-97804203 (+)	20,186 bp
Tssr57868	Chr6:97804214-97804225 (+)	20,207 bp
Tssr57869	Chr6:97804240-97804263 (+)	20,239 bp
Tssr1945	Chr6:97804274-97804277 (+)	20,263 bp
Tssr57870	Chr6:97804406-97804422 (+)	20,401 bp
Tssr57871	Chr6:97804426-97804440 (+)	20,420 bp
Tssr57872	Chr6:97805200-97805210 (+)	21,192 bp
Tssr57873	Chr6:97805251-97805256 (+)	21,241 bp
Tssr57874	Chr6:97805261-97805273 (+)	21,254 bp
Tssr57875	Chr6:97805278-97805293 (+)	21,273 bp
Tssr57876	Chr6:97805313-97805323 (+)	21,305 bp
Tssr57877	Chr6:97806221-97806264 (+)	22,230 bp
Tssr57878	Chr6:97806265-97806277 (+)	22,258 bp
Tssr57879	Chr6:97806281-97806307 (+)	22,281 bp
Tssr57880	Chr6:97806334-97806354 (+)	22,331 bp
Tssr57881	Chr6:97806534-97806537 (+)	22,523 bp
Tssr57882	Chr6:97806632-97806643 (+)	22,625 bp
Tssr57883	Chr6:97807908-97807919 (+)	23,901 bp
Tssr57884	Chr6:97808292-97808304 (+)	24,285 bp
Tssr57885	Chr6:97809965-97809980 (+)	25,960 bp
Tssr57886	Chr6:97812130-97812144 (+)	28,124 bp
Tssr57887	Chr6:97813462-97813502 (+)	29,469 bp
Tssr57888	Chr6:97827093-97827105 (+)	43,086 bp
Tssr57889	Chr6:97827633-97827661 (+)	43,634 bp
Tssr57890	Chr6:97827878-97827904 (+)	43,878 bp
Tssr57891	Chr6:97827938-97827947 (+)	43,930 bp
Tssr57892	Chr6:97830463-97830479 (+)	46,458 bp
Tssr1946	Chr6:97831696-97831714 (+)	47,692 bp
Tssr57893	Chr6:97839850-97839895 (+)	55,860 bp
Tssr57894	Chr6:97845752-97845767 (+)	61,747 bp
Tssr57895	Chr6:97846337-97846348 (+)	62,330 bp
Tssr57896	Chr6:97851135-97851143 (+)	67,126 bp
Tssr57897	Chr6:97852909-97852920 (+)	68,902 bp
Tssr57898	Chr6:97853112-97853131 (+)	69,109 bp
Tssr57899	Chr6:97853501-97853530 (+)	69,503 bp
Tssr57900	Chr6:97857476-97857480 (+)	73,465 bp
Tssr57901	Chr6:97861007-97861011 (+)	76,996 bp
Tssr57902	Chr6:97865219-97865230 (+)	81,212 bp
Tssr57903	Chr6:97869316-97869332 (+)	85,311 bp
Tssr57904	Chr6:97870897-97870913 (+)	86,892 bp
Tssr57905	Chr6:97870997-97871025 (+)	86,998 bp
Tssr57906	Chr6:97881613-97881629 (+)	97,608 bp
Tssr57907	Chr6:97881664-97881676 (+)	97,657 bp
Tssr57908	Chr6:97892147-97892162 (+)	108,142 bp
Tssr57909	Chr6:97892196-97892205 (+)	108,188 bp
Tssr57910	Chr6:97892379-97892390 (+)	108,372 bp
Tssr57911	Chr6:97899712-97899718 (+)	115,702 bp
Tssr57912	Chr6:97902623-97902627 (+)	118,612 bp
Tssr57913	Chr6:97906769-97906783 (+)	122,763 bp
Tssr57914	Chr6:97906784-97906824 (+)	122,791 bp
Tssr57915	Chr6:97918102-97918114 (+)	134,095 bp
Tssr57916	Chr6:97918133-97918153 (+)	134,130 bp
Tssr57917	Chr6:97918156-97918170 (+)	134,150 bp
Tssr57918	Chr6:97918188-97918190 (+)	134,176 bp
Tssr57919	Chr6:97918932-97918940 (+)	134,923 bp
Tssr57920	Chr6:97920231-97920258 (+)	136,232 bp
Tssr57921	Chr6:97920260-97920272 (+)	136,253 bp
Tssr57922	Chr6:97920286-97920298 (+)	136,279 bp
Tssr57923	Chr6:97921206-97921255 (+)	137,218 bp
Tssr57924	Chr6:97921303-97921314 (+)	137,296 bp
Tssr57925	Chr6:97921505-97921516 (+)	137,498 bp
Tssr57926	Chr6:97921525-97921541 (+)	137,520 bp
Tssr57927	Chr6:97922136-97922151 (+)	138,131 bp
Tssr57928	Chr6:97923794-97923816 (+)	139,792 bp
Tssr57929	Chr6:97927974-97927985 (+)	143,967 bp
Tssr57930	Chr6:97933972-97933978 (+)	149,962 bp
Tssr57931	Chr6:97933994-97933999 (+)	149,984 bp
Tssr57932	Chr6:97934000-97934010 (+)	149,992 bp
Tssr57933	Chr6:97934040-97934047 (+)	150,031 bp
Tssr57934	Chr6:97948181-97948227 (+)	164,191 bp
Tssr57935	Chr6:97949559-97949568 (+)	165,551 bp
Tssr57936	Chr6:97954689-97954700 (+)	170,682 bp
Tssr57937	Chr6:97954823-97954839 (+)	170,818 bp
Tssr57938	Chr6:97954916-97954930 (+)	170,910 bp
Tssr57939	Chr6:97955594-97955616 (+)	171,592 bp
Tssr57940	Chr6:97955713-97955724 (+)	171,706 bp
Tssr57941	Chr6:97955763-97955776 (+)	171,757 bp
Tssr57942	Chr6:97957087-97957117 (+)	173,089 bp
Tssr57943	Chr6:97968737-97968751 (+)	184,731 bp
Tssr57944	Chr6:97970250-97970263 (+)	186,244 bp
Tssr57945	Chr6:97971337-97971363 (+)	187,337 bp
Tssr57946	Chr6:97977957-97977976 (+)	193,954 bp
Tssr57947	Chr6:97981717-97981742 (+)	197,717 bp
Tssr57948	Chr6:97982036-97982050 (+)	198,030 bp
Tssr57949	Chr6:97995401-97995422 (+)	211,399 bp
Tssr57950	Chr6:97995448-97995461 (+)	211,442 bp
Tssr57951	Chr6:97995626-97995639 (+)	211,620 bp
Tssr57952	Chr6:97995663-97995691 (+)	211,664 bp
Tssr57953	Chr6:97995973-97995990 (+)	211,969 bp
Tssr57954	Chr6:97996028-97996038 (+)	212,020 bp
Tssr57955	Chr6:97997004-97997008 (+)	212,993 bp
Tssr57956	Chr6:97997361-97997392 (+)	213,364 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)
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