SHIELD | Shared Harvard Inner-Ear Laboratory Database

GENE VIEW

Pax3

MOUSE GENE INFORMATION [PubMed]

Description

paired box 3

Synonyms

Pax-3

Chromosome

Genetic Map Distance

39.79 cM

RefSeq Accessions

NM_001159520; NM_008781; NP_001152992; NP_032807

NCBI Entrez Gene

18505 at chr1:78097842-78193711 (mm9) / chr1:78101267-78197516 (mm10)

Ensembl Gene

ENSMUSG00000004872

VEGA Gene

OTTMUSG00000037633

MGI Gene

MGI:97487

Mouse Protein (5)

UniProt ID	Description	Length (AA)
P24610	Paired box protein Pax-3	479
Q3TZM4	Putative uncharacterized protein	484
Q3UGH9	Putative uncharacterized protein	479
Q8BRF1	Pax3 protein	484
Q9CZK7	Putative uncharacterized protein	488

Pfam Domains

PAX; Pfam-B_7620; Homeobox; Pfam-B_7551; Pax7

Mouse alleles (32)

Allele Name	Allele Type
Pax3^{tm1(NCOM)Mfgc}	NorCOMM-projects
Pax3^m1Nisw	Chemically induced (ENU)
Pax3^Sp-1H	Radiation induced
Pax3^Sp-2H	Radiation induced
Pax3^Sp-2J	Spontaneous
Pax3^Sp-3J	Spontaneous
Pax3^Sp-4H	Radiation induced
Pax3^Sp-5H	Radiation induced
Pax3^Sp-6H	Chemically and radiation induced
Pax3^Sp-7H	Chemically induced (ENU)
Pax3^Sp-d	Spontaneous
Pax3^Sp-J	Spontaneous
Pax3^Sp	Spontaneous
Pax3^tm1(cre)Joe	Targeted (knock-in)
Pax3^{tm1(FOXO1A)Gcg}	Targeted (knock-in)
Pax3^tm1.1Sjc	Targeted (Floxed/Frt)
Pax3^tm1.2Sjc	Targeted (knock-out)
Pax3^tm1Buck	Targeted (Reporter)
Pax3^tm1Mrc	Targeted (knock-in)
Pax3^tm1Sjc	Targeted (Floxed/Frt)
Pax3^{tm2(PAX3/FOXO1A)Buck}	Targeted (knock-in)
Pax3^{tm2.1(PAX3/FOXO1A)Buck}	Targeted (knock-in)
Pax3^tm2.1Joe	Targeted (other)
Pax3^tm2Joe	Targeted (Floxed/Frt)
Pax3^{tm3(Pax7)Buck}	Targeted (knock-in)
Pax3^{tm3.1(Pax7)Buck}	Targeted (knock-in)
Pax3^tm4Buck	Targeted (Reporter)
Pax3^tm5.1Buck	Targeted (Reporter)
Pax3^tm5Buck	Targeted (Floxed/Frt)
Pax3^{tm6(Pax8)Buck}	Targeted (Reporter)
Pax3^{tm6.1(Pax8)Buck}	Targeted (knock-in)
Pax3^tm6.2Buck	Targeted (Reporter)

Human Homolog

PAX3 (paired box 3)

Human synonyms

CDHS; HUP2; WS1; WS3

Human cytoband

2q35

Known deafness gene

WS1/WS3

Within mapped deafness loci

Associated Human Disease in OMIM

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

Rhabdomyosarcoma 2; RMS2 [Rhabdomyosarcoma, Alveolar; RMSA]

Craniofacial-Deafness-Hand Syndrome; CDHS

Waardenburg Syndrome, Type 3; WS3 [Klein-Waardenburg Syndrome|Waardenburg Syndrome with Upper Limb Anomalies|Waardenburg Syndrome, Type III]

Chicken homolog (3)

ENSGALG00000005246 (PAX3) encoding ENSGALP00000006282

ENSGALG00000005246 (PAX3) encoding ENSGALP00000008414

ENSGALG00000005246 (PAX3) encoding ENSGALP00000040058

Gene Ontology

Biological Process (21)	heart development; muscle organ development; transcription; DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; regulation of transcription; DNA-dependent; regulation of transcription; DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter; neural crest cell migration; developmental pigmentation; neural tube closure; neuron fate commitment; spinal cord association neuron differentiation; neural tube development; positive regulation of transcription; DNA-dependent; mammary gland specification; multicellular organismal development; cell proliferation; cell migration; positive regulation of cell proliferation
Cellular Component (3)	nucleus; nucleus; transcription factor complex
Molecular Function (10)	sequence-specific DNA binding; sequence-specific DNA binding; DNA binding; DNA binding; protein binding; protein binding; sequence-specific DNA binding transcription factor activity; chromatin binding; sequence-specific distal enhancer binding RNA polymerase II transcription factor activity; sequence-specific distal enhancer binding RNA polymerase II transcription factor activity

FACS-Sorted Hair Cells

Data | Chart

Analysis

Condition A	Mean A	Condition B	Mean B	Fold Change (B/A)	False Discovery Rate (FDR)
GFP-	49	GFP+	7	0.15	0.0776
Utricle	33	Cochlea	23	0.71	0.738
Embryonic	50	Postnatal	16	0.32	0.0163

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)
17224684	4.44 ± 0.35	6.67 ± 1.32 [3.91]	1.50	0.31

Otic Progenitor Cells

Data

Growth Factor	Replicate 1	Replicate 2	Replicate 3	Mean
bFGF	781	740	751	578
No bFGF	820	796	862	1228
EGF	1106	1022	1093	1074

Analysis

Condition A	Mean A	Condition B	Mean B	Fold Change (B/A)	False Discovery Rate (FDR)
bFGF	578	No bFGF	1228	2.13	0.0757
bFGF	578	EGF	1074	1.86	3.78e-7
No bFGF	1228	EGF	1074	0.87	0.239

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: 1420389_at

Age	E12	E13	E16	P0	P6	P15
Spiral ganglion
Replicate 1	400.96	301.14	355.35	421.49	371.66	387.95
Replicate 1 Call	A	P	A	A	A	A
Replicate 2	401.22	355.93	433.14	399.64	448.03	377.67
Replicate 2 Call	A	A	A	A	A	A
Replicate 3	333.74	344.77	419.21	554.87	382.04	397.35
Replicate 3 Call	A	A	A	A	A	A
Replicate 4			404.6	502.94	436.54	351.98
Replicate 4 Call			A	A	A	A
Mean	378.64	333.95	403.08	469.74	409.57	378.74
Standard Deviation	38.88	28.95	33.88	72.09	38.3	19.57
Log2 Mean	8.56	8.38	8.65	8.86	8.67	8.56
Log2 Standard Deviation	0.15	0.13	0.13	0.22	0.14	0.08

Vestibular ganglion
Replicate 1	421.34	348.54	550.27	483.63	482.7	297.8
Replicate 1 Call	P	P	A	A	A	A
Replicate 2	430.8	397.92	542.12	559.54	449.57	369.77
Replicate 2 Call	P	P	P	A	A	A
Replicate 3	460.5	368.17	478.97	592.98	422.71	318.56
Replicate 3 Call	P	P	P	P	A	A
Mean	437.55	371.54	523.79	545.38	451.66	328.71
Standard Deviation	20.43	24.86	39.03	56.03	30.05	37.04
Log2 Mean	8.77	8.54	9.03	9.09	8.82	8.35
Log2 Standard Deviation	0.07	0.1	0.11	0.15	0.1	0.16

Probe set ID: 1430335_a_at

Age	E12	E13	E16	P0	P6	P15
Spiral ganglion
Replicate 1	111.39	136.51	117.61	113.83	113.52	96.94
Replicate 1 Call	A	P	A	A	A	A
Replicate 2	123.53	134.16	93.82	112.97	103.12	134.94
Replicate 2 Call	A	A	A	A	A	A
Replicate 3	103.8	133.75	114.5	136.24	91.21	100.07
Replicate 3 Call	A	A	A	A	A	A
Replicate 4			132.97	112.82	122.4	117.59
Replicate 4 Call			A	A	A	A
Mean	112.91	134.81	114.73	118.97	107.56	112.39
Standard Deviation	9.95	1.49	16.11	11.53	13.45	17.57
Log2 Mean	6.82	7.07	6.83	6.89	6.74	6.8
Log2 Standard Deviation	0.13	0.02	0.21	0.13	0.18	0.22

Vestibular ganglion
Replicate 1	145.98	120.99	118.52	122.03	117.03	99.34
Replicate 1 Call	A	A	A	A	A	A
Replicate 2	119.91	123.11	104.18	111.14	128.87	102.03
Replicate 2 Call	A	A	A	A	A	A
Replicate 3	118.2	130.25	114.74	141.71	110.2	112.25
Replicate 3 Call	A	A	A	A	A	A
Mean	128.03	124.78	112.48	124.96	118.7	104.54
Standard Deviation	15.57	4.85	7.43	15.49	9.45	6.81
Log2 Mean	6.99	6.96	6.81	6.96	6.89	6.71
Log2 Standard Deviation	0.17	0.06	0.1	0.18	0.11	0.09

Probe set ID: 1441743_at

Age	E12	E13	E16	P0	P6	P15
Spiral ganglion
Replicate 1	24.2	36.1	15.33	11.89	31.1	31.28
Replicate 1 Call	A	A	A	A	A	A
Replicate 2	29	24.71	10.77	12.29	21.48	14.93
Replicate 2 Call	A	A	A	A	A	A
Replicate 3	11.75	16.12	17.27	9.58	8.12	24.23
Replicate 3 Call	A	A	A	A	A	A
Replicate 4			4.62	27.98	16.52	10.26
Replicate 4 Call			A	A	A	A
Mean	21.65	25.64	12	15.44	19.31	20.18
Standard Deviation	8.9	10.02	5.62	8.45	9.6	9.41
Log2 Mean	4.34	4.6	3.42	3.81	4.11	4.21
Log2 Standard Deviation	0.69	0.58	0.86	0.68	0.82	0.72

Vestibular ganglion
Replicate 1	362.8	377.94	85.73	711.08	112.62	132.48
Replicate 1 Call	A	P	A	P	A	P
Replicate 2	334.46	421.51	725.33	96.72	298.33	105.79
Replicate 2 Call	A	P	P	A	P	P
Replicate 3	283.65	372.42	1271.27	1122.64	654.84	102.55
Replicate 3 Call	A	P	P	P	P	P
Mean	326.97	390.62	694.11	643.48	355.26	113.61
Standard Deviation	40.1	26.89	593.39	516.29	275.56	16.42
Log2 Mean	8.35	8.61	8.75	8.73	8.13	6.82
Log2 Standard Deviation	0.18	0.1	2.05	1.88	1.27	0.2

Utricle GFP+ cells

Cochlea GFP+ cells

Utricle GFP- cells

Cochlea GFP- cells