SHIELD | Shared Harvard Inner-Ear Laboratory Database

MOUSE GENE INFORMATION [PubMed]

Description

microphthalmia-associated transcription factor

Synonyms

BCC2; bHLHe32; wh; mi; Gsfbcc2

Chromosome

Genetic Map Distance

45.05 cM

RefSeq Accessions

NM_001113198; NM_001178049; NM_008601; NP_001106669; NP_001171520; NP_032627

NCBI Entrez Gene

17342 at chr6:97757052-97971352 (mm9) / chr6:97807005-98021360 (mm10)

Ensembl Gene

ENSMUSG00000035158

VEGA Gene

OTTMUSG00000023284

MGI Gene

MGI:104554

Mouse Protein (9)

UniProt ID	Description	Length (AA)
Q08874	Microphthalmia-associated transcription factor	526
D6RCW2	Uncharacterized protein	105
Q32MU7	Microphthalmia-associated transcription factor	419
Q3U2D2	Putative uncharacterized protein	526
Q5C9J0	Microphthalmia-associated transcription factor B isoform (Fragment)	93
Q5C9J1	Microphthalmia-associated transcription factor C isoform (Fragment)	11
Q8C6Y4	Putative uncharacterized protein (Fragment)	361
Q8K421	Microphthalmia-associated transcription factor (Fragment)	43
Q8R5M9	Microphtalmia-associated transcription factor (Fragment)	8

Pfam Domains

Pfam-B_347; 5-FTHF_cyc-lig; HLH; DUF3371

Mouse alleles (31)

Allele Name	Allele Type
Mitf^{tm1e(KOMP)Mbp}	KOMP-CSD-Project
Mitf^{tm1a(KOMP)Mbp}	KOMP-CSD-Project
Mitf^Mi-b	Spontaneous
Mitf^mi-bcc2	Chemically induced (ENU)
Mitf^mi-bw	Spontaneous
Mitf^mi-bws	Spontaneous
Mitf^mi-ce	Spontaneous
Mitf^Mi-Crc	Spontaneous
Mitf^mi-di	Chemically induced (ENU)
Mitf^mi-enu122	Chemically induced (ENU)
Mitf^mi-enu198	Chemically induced (ENU)
Mitf^mi-enu5	Chemically induced (ENU)
Mitf^mi-ew	Spontaneous
Mitf^Mi-H	Chemically induced (ENU)
Mitf^mi-J	Spontaneous
Mitf^Mi-Mee	Spontaneous
Mitf^Mi-Or	Radiation induced
Mitf^mi-rw	Spontaneous
Mitf^mi-sp	Spontaneous
Mitf^mi-tg	Transgenic (random, gene disruption)
Mitf^mi-vga9	Transgenic (random, gene disruption)
Mitf^mi-vit	Spontaneous
Mitf^Mi-wh	Spontaneous
Mitf^Mi-ws	Radiation induced
Mitf^mi-x	Spontaneous
Mitf^mi-x39	Radiation induced
Mitf^Mi	Not Specified
Mitf^Rorp	Chemically induced (ENU)
Mitf^tm1.1Arnh	Targeted (knock-in)
Mitf^tm1.2Arnh	Targeted (knock-in)
Mitf^tm1Arnh	Targeted (knock-in)

Human Homolog

MITF (microphthalmia-associated transcription factor)

Human synonyms

bHLHe32; MI; WS2; WS2A

Human cytoband

3p14.2-p14.1

Known deafness gene

WS2A

Within mapped deafness loci

Associated Human Disease in OMIM

Albinism, Ocular, with Sensorineural Deafness [Waardenburg Syndrome, Type 2, with Ocular Albinism, Autosomal Recessive; WS2-OA]

Tietz Syndrome [Albinism-Deafness of Tietz|Hypopigmentation/Deafness of Tietz|Tietz Albinism-Deafness Syndrome]

Waardenburg Syndrome, Type 2A; WS2A [Waardenburg Syndrome without Dystopia Canthorum|Waardenburg Syndrome, Type IIA|WS2]

Camurati-Engelmann Disease; CAEND [CED|Diaphyseal Dysplasia 1, Progressive; DPD1|Engelmann Disease|Progressive Diaphyseal Dysplasia; PDD]

Waardenburg Syndrome, Type 1; WS1 [Waardenburg Syndrome with Dystopia Canthorum]

Chicken homolog (2)

ENSGALG00000007679 (Q9IAU0_CHICK) encoding ENSGALP00000012434

ENSGALG00000007679 (Q9IAU0_CHICK) encoding ENSGALP00000035445

Gene Ontology

Biological Process (28)	camera-type eye development; regulation of apoptotic process; pigmentation; pigmentation; pigmentation; negative regulation of apoptotic process; regulation of gene expression; multicellular organismal development; transcription; DNA-dependent; protein complex assembly; regulation of transcription from RNA polymerase II promoter; melanocyte differentiation; melanocyte differentiation; melanocyte differentiation; positive regulation of transcription from RNA polymerase II promoter; bone remodeling; osteoclast differentiation; cell differentiation; regulation of cell proliferation; Wnt receptor signaling pathway; regulation of transcription; DNA-dependent; cell fate commitment; regulation of osteoclast differentiation; regulation of osteoclast differentiation; positive regulation of transcription; DNA-dependent; positive regulation of transcription; DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter
Cellular Component (3)	protein complex; nucleus; nucleus
Molecular Function (7)	sequence-specific DNA binding; RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription; sequence-specific DNA binding transcription factor activity; sequence-specific DNA binding transcription factor activity; DNA binding; chromatin binding; sequence-specific distal enhancer binding RNA polymerase II transcription factor activity

FACS-Sorted Hair Cells

Data | Chart

	E16a	E16b	P0	P4	P7	P16
Utricle GFP+ cells	104	95	32	36	14	65
Cochlea GFP+ cells	44	65	87	67	52	NA
Utricle GFP- cells	548	373	285	466	507	220
Cochlea GFP- cells	330	319	322	229	283	NA

Analysis

Condition A	Mean A	Condition B	Mean B	Fold Change (B/A)	False Discovery Rate (FDR)
GFP-	353	GFP+	60	0.17	0.039
Utricle	229	Cochlea	180	0.79	1
Embryonic	235	Postnatal	190	0.81	0.781

Adult Cochlear Inner and Outer Hair Cells

Probeset ID	IHC (mean ± sd)	OHC (mean ± sd) [OHC replicate]	Fold Change (OHC/IHC)	False Discovery Rate (FDR)
17461132	18.14 ± 0.75	15.16 ± 2.26 [17.32]	0.84	0.519

Otic Progenitor Cells

Data

Growth Factor	Replicate 1	Replicate 2	Replicate 3	Mean
bFGF	84	80	74	97
No bFGF	82	70	73	65
EGF	40	54	58	51

Analysis

Condition A	Mean A	Condition B	Mean B	Fold Change (B/A)	False Discovery Rate (FDR)
bFGF	97	No bFGF	65	0.67	1
bFGF	97	EGF	51	0.53	0.000414
No bFGF	65	EGF	51	0.78	0.305

Chicken Stereocilium Proteomics

The chicken protein was not reproducibly detected in the chicken stereocilia.

The chicken protein was not reproducibly detected in the chicken stereocilia.

Auditory and Vestibular Ganglion Neurons

Probe set ID: 1422025_at

Age	E12	E13	E16	P0	P6	P15
Spiral ganglion
Replicate 1	1	1.54	1	1	1	29.11
Replicate 1 Call	A	A	A	A	A	A
Replicate 2	1.57	1	10.87	5.25	1.31	2
Replicate 2 Call	A	A	A	A	A	A
Replicate 3	1	3.93	1	29.95	37.43	1.25
Replicate 3 Call	A	A	A	A	A	A
Replicate 4			1	1.71	15.03	1
Replicate 4 Call			A	A	A	A
Mean	1.19	2.16	3.47	9.48	13.69	8.34
Standard Deviation	0.33	1.56	4.94	13.77	17.12	13.85
Log2 Mean	0.22	0.87	0.86	2.02	2.38	1.55
Log2 Standard Deviation	0.38	1.01	1.72	2.17	2.59	2.25

Vestibular ganglion
Replicate 1	1	1.36	19.56	61.54	1	2.6
Replicate 1 Call	A	A	A	A	A	A
Replicate 2	1	24.17	0.66	45.47	3.08	15.5
Replicate 2 Call	A	A	A	A	A	A
Replicate 3	3.42	1.44	4.05	36.1	1	11.29
Replicate 3 Call	A	A	A	A	A	A
Mean	1.81	8.99	8.09	47.7	1.69	9.8
Standard Deviation	1.4	13.15	10.08	12.87	1.2	6.58
Log2 Mean	0.59	1.85	1.9	5.54	0.54	2.94
Log2 Standard Deviation	1.02	2.37	2.45	0.39	0.94	1.37

Probe set ID: 1455214_at

Age	E12	E13	E16	P0	P6	P15
Spiral ganglion
Replicate 1	217.25	318	253.52	741.35	1658.75	2636.41
Replicate 1 Call	P	P	P	P	P	P
Replicate 2	204.72	305.29	265.21	1334.6	1267.83	1785.67
Replicate 2 Call	P	P	P	P	P	P
Replicate 3	257.8	406.41	317.35	423.69	1913.54	1935.18
Replicate 3 Call	P	P	P	P	P	P
Replicate 4			524.92	404.23	1626.91	1809.44
Replicate 4 Call			P	P	P	P
Mean	226.59	343.23	340.25	725.97	1616.76	2041.68
Standard Deviation	27.75	55.08	126.2	434.19	265.64	401.88
Log2 Mean	7.82	8.41	8.35	9.33	10.64	10.98
Log2 Standard Deviation	0.17	0.22	0.48	0.81	0.25	0.26

Vestibular ganglion
Replicate 1	253.28	361.39	653.22	1048.56	1767.52	1291.36
Replicate 1 Call	P	P	P	P	P	P
Replicate 2	253.62	425.15	800.57	1086.24	1774.68	1491.61
Replicate 2 Call	P	P	P	P	P	P
Replicate 3	251.6	395.56	866.88	887.98	1744.17	1610.3
Replicate 3 Call	P	P	P	P	P	P
Mean	252.83	394.03	773.56	1007.59	1762.12	1464.42
Standard Deviation	1.08	31.91	109.36	105.29	15.95	161.2
Log2 Mean	7.98	8.62	9.59	9.97	10.78	10.51
Log2 Standard Deviation	0.01	0.12	0.21	0.16	0.01	0.16

GENE VIEW

Mitf