SHIELD | Shared Harvard Inner-Ear Laboratory Database

GENE VIEW

Opa1

MOUSE GENE INFORMATION [PubMed]

Description

optic atrophy 1

Synonyms

lilr3; 1200011N24Rik

Chromosome

Genetic Map Distance

20.65 cM

RefSeq Accessions

NM_001199177; NM_133752; NP_001186106; NP_598513

NCBI Entrez Gene

74143 at chr16:29579428-29652576 (mm9) / chr16:29579308-29663142 (mm10)

Ensembl Gene

ENSMUSG00000038084

VEGA Gene

OTTMUSG00000031484

MGI Gene

MGI:1921393

Mouse Protein (5)

UniProt ID	Description	Length (AA)
P58281	Dynamin-like 120 kDa protein, mitochondrial	960
E0CXD1	Uncharacterized protein	692
E0CXG1	Uncharacterized protein	530
Q80TX7	MKIAA0567 protein (Fragment)	953
Q8BK99	Putative uncharacterized protein	567

Pfam Domains

DUF1593; Dynamin_N; Pfam-B_4428; NPV_P10

Mouse alleles (5)

Allele Name	Allele Type
Opa1^{tm1a(KOMP)Wtsi}	KOMP-CSD-Project
Opa1^{tm1e(KOMP)Wtsi}	KOMP-CSD-Project
Opa1^lilr3	Chemically induced (ENU)
Opa1^m1Bewi	Chemically induced (ENU)
Opa1^Q285X	Chemically induced (ENU)

Human Homolog

OPA1 (optic atrophy 1 (autosomal dominant))

Human synonyms

largeG; MGM1; NPG; NTG

Human cytoband

3q28-q29

Known deafness gene

Within mapped deafness loci

Associated Human Disease in OMIM

Optic Atrophy 1; OPA1 [Kjer-Type Optic Atrophy|Optic Atrophy, Juvenile|Optic Atrophy, Kjer Type; OAK]

Optic Atrophy with or without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy [Dominant Optic Atrophy Plus Syndrome; DOA+]

Glaucoma, Normal Tension, Susceptibility to [Glaucoma, Normal Pressure, Susceptibility To; NPG|NTG]

Chicken homolog (1)

ENSGALG00000007150 (OPA1_CHICK) encoding ENSGALP00000011569

Gene Ontology

Biological Process (10)	response to stimulus; apoptotic process; inner mitochondrial membrane organization; visual perception; mitochondrion organization; mitochondrial fusion; neural tube closure; positive regulation of anti-apoptosis; GTP catabolic process; negative regulation of release of cytochrome c from mitochondria
Cellular Component (12)	mitochondrial outer membrane; membrane; integral to membrane; mitochondrial intermembrane space; dendrite; mitochondrial crista; mitochondrion; mitochondrion; mitochondrion; mitochondrion; mitochondrial inner membrane; mitochondrial inner membrane
Molecular Function (4)	GTP binding; nucleotide binding; GTPase activity; protein binding

FACS-Sorted Hair Cells

Data | Chart

Analysis

Condition A	Mean A	Condition B	Mean B	Fold Change (B/A)	False Discovery Rate (FDR)
GFP-	48	GFP+	50	1.04	0.938
Utricle	45	Cochlea	53	1.18	1
Embryonic	60	Postnatal	42	0.70	0.961

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)
17324583	102.08 ± 2.37	96.44 ± 13.72 [75.05]	0.94	0.715

Otic Progenitor Cells

Data

Growth Factor	Replicate 1	Replicate 2	Replicate 3	Mean
bFGF	1521	1460	1375	1342
No bFGF	1527	1446	1240	1437
EGF	1464	1352	1235	1350

Analysis

Condition A	Mean A	Condition B	Mean B	Fold Change (B/A)	False Discovery Rate (FDR)
bFGF	1342	No bFGF	1437	1.07	1
bFGF	1342	EGF	1350	1.01	1
No bFGF	1437	EGF	1350	0.94	0.699

Chicken Stereocilium Proteomics

Protein ID	ENSGALP00000011569
Symbol	OPA1
Description	Optic atrophy 1 (autosomal dominant)
log10 riBAQ in stereocilia (mean ± sd)	ND
log10 riBAQ in utricle (mean ± sd)	-3.76 ± 0.17
Molecules per stereocilium (mean ± error with slope error)	ND
Corrected Molecules per stereocilium (mean ± sd)	ND
Stereocilium / Utricle ratio (mean ± sd)	UTR only
Enriched in the stereocilia (FDR < 0.05)	NA

Auditory and Vestibular Ganglion Neurons

Probe set ID: 1418768_at

Age	E12	E13	E16	P0	P6	P15
Spiral ganglion
Replicate 1	433.51	293.02	193.87	248.6	162.46	151.25
Replicate 1 Call	P	P	P	M	P	P
Replicate 2	407.65	286.73	182.09	314.28	250.88	265.09
Replicate 2 Call	P	P	P	P	A	P
Replicate 3	481.78	315.56	189.05	201.58	173.94	258.97
Replicate 3 Call	P	P	P	A	P	P
Replicate 4			86.59	202.46	187.67	216.97
Replicate 4 Call			A	A	P	M
Mean	440.98	298.44	162.9	241.73	193.74	223.07
Standard Deviation	37.63	15.16	51.1	53.12	39.46	52.44
Log2 Mean	8.78	8.22	7.28	7.89	7.58	7.77
Log2 Standard Deviation	0.12	0.07	0.56	0.3	0.28	0.37

Vestibular ganglion
Replicate 1	339.66	282.32	331.38	377.54	360.84	343.59
Replicate 1 Call	P	P	P	P	P	P
Replicate 2	316.44	298.53	352.1	348.58	368.61	332.26
Replicate 2 Call	P	P	P	P	P	P
Replicate 3	290.61	276.4	446.99	258.86	340.27	308.45
Replicate 3 Call	P	P	P	M	P	P
Mean	315.57	285.75	376.82	328.33	356.57	328.1
Standard Deviation	24.54	11.46	61.64	61.88	14.64	17.94
Log2 Mean	8.3	8.16	8.55	8.34	8.48	8.36
Log2 Standard Deviation	0.11	0.06	0.23	0.29	0.06	0.08

Probe set ID: 1434890_at

Age	E12	E13	E16	P0	P6	P15
Spiral ganglion
Replicate 1	4592.21	4158.37	4469.57	4688.09	3669.55	2744.25
Replicate 1 Call	P	P	P	P	P	P
Replicate 2	4621.54	5145.97	3536.32	3603.9	5050.88	2125.68
Replicate 2 Call	P	P	P	P	P	P
Replicate 3	4909.82	5129.15	3873.88	4787.3	2824.79	3967.22
Replicate 3 Call	P	P	P	P	P	P
Replicate 4			3063.43	5219.05	2511.12	4392.51
Replicate 4 Call			P	P	P	P
Mean	4707.86	4811.16	3735.8	4574.59	3514.09	3307.42
Standard Deviation	175.52	565.4	591.43	686.95	1135.34	1053
Log2 Mean	12.2	12.23	11.85	12.15	11.73	11.63
Log2 Standard Deviation	0.05	0.18	0.23	0.23	0.45	0.48

Vestibular ganglion
Replicate 1	5209.07	5293.98	4106.43	5049.84	5034.32	5936.16
Replicate 1 Call	P	P	P	P	P	P
Replicate 2	5047.65	5380.87	4354.2	4494.42	4940.34	5551.22
Replicate 2 Call	P	P	P	P	P	P
Replicate 3	5070.1	5105.71	4255.78	4706.75	4913.01	5608.12
Replicate 3 Call	P	P	P	P	P	P
Mean	5108.94	5260.19	4238.8	4750.34	4962.56	5698.5
Standard Deviation	87.44	140.66	124.75	280.26	63.63	207.78
Log2 Mean	12.32	12.36	12.05	12.21	12.28	12.48
Log2 Standard Deviation	0.02	0.04	0.04	0.08	0.02	0.05

Probe set ID: 1449214_a_at

Age	E12	E13	E16	P0	P6	P15
Spiral ganglion
Replicate 1	1001.46	1245.54	527.66	390.49	277.6	345.19
Replicate 1 Call	P	P	P	P	P	P
Replicate 2	955	1450.28	270.79	580.95	450.68	156.75
Replicate 2 Call	P	P	P	P	P	P
Replicate 3	1111.11	1385.64	329.62	388.69	365.5	271.61
Replicate 3 Call	P	P	P	P	P	P
Replicate 4			367.6	428.1	272.33	339.87
Replicate 4 Call			P	P	P	P
Mean	1022.52	1360.49	373.92	447.06	341.53	278.36
Standard Deviation	80.16	104.66	109.96	91.09	84.39	87.72
Log2 Mean	10	10.41	8.5	8.78	8.38	8.05
Log2 Standard Deviation	0.11	0.11	0.4	0.27	0.35	0.53

Vestibular ganglion
Replicate 1	808.49	795.82	709.98	883.3	620.45	940.51
Replicate 1 Call	P	P	P	P	P	P
Replicate 2	748.79	955.04	826.34	634.54	864.7	842.4
Replicate 2 Call	P	P	P	P	P	P
Replicate 3	630.54	844.07	861.12	560.78	867.67	826.95
Replicate 3 Call	P	P	P	P	P	P
Mean	729.27	864.98	799.15	692.87	784.27	869.95
Standard Deviation	90.57	81.64	79.15	168.99	141.88	61.59
Log2 Mean	9.5	9.75	9.64	9.41	9.6	9.76
Log2 Standard Deviation	0.18	0.13	0.15	0.34	0.28	0.1

Utricle GFP+ cells

Cochlea GFP+ cells

Utricle GFP- cells

Cochlea GFP- cells