SHIELD | Shared Harvard Inner-Ear Laboratory Database

MOUSE GENE INFORMATION [PubMed]

Description

ataxia telangiectasia and Rad3 related

Synonyms

Chromosome

Genetic Map Distance

50.27 cM

RefSeq Accessions

NM_019864; NP_063917

NCBI Entrez Gene

245000 at chr9:95758016-95852063 (mm9) / chr9:95857597-95953217 (mm10)

Ensembl Gene

ENSMUSG00000032409

VEGA Gene

MGI Gene

MGI:108028

Mouse Protein (4)

UniProt ID	Description	Length (AA)
Q9JKK8	Serine/threonine-protein kinase ATR	2635
Q3TRL7	Putative uncharacterized protein	397
Q3TZM5	Putative uncharacterized protein	517
Q3UXJ0	Putative uncharacterized protein	430

Pfam Domains

Pfam-B_733; AAA; Pfam-B_1844; UME; Pfam-B_1844; FAT; Pfam-B_3474; Pfam-B_2057; PI3_PI4_kinase; FATC

Mouse alleles (8)

Allele Name	Allele Type
Atr^{tm1a(KOMP)Wtsi}	KOMP-CSD-Project
Atr^tm1.1Twgl	Targeted (knock-in)
Atr^tm1Akl	Targeted (Reporter)
Atr^tm1Bal	Targeted (knock-out)
Atr^tm1Ofc	Targeted (knock-in)
Atr^tm1Twgl	Targeted (knock-in)
Atr^tm2Bal	Targeted (Floxed/Frt)
Atr^tm2Ofc	Targeted (knock-in)

Human Homolog

ATR (ataxia telangiectasia and Rad3 related)

Human synonyms

FRP1; MEC1; SCKL; SCKL1

Human cytoband

3q22-q24

Known deafness gene

Within mapped deafness loci

DFNB15; DFNA18; OTSC5

Associated Human Disease in OMIM

Seckel Syndrome 1; SCKL1 [Bird-Headed Dwarfism|Microcephalic Primordial Dwarfism I|Nanocephalic Dwarfism|SCKL|Seckel-Type Dwarfism]

Chicken homolog (1)

ENSGALG00000002663 (ATR) encoding ENSGALP00000004185

Gene Ontology

Biological Process (14)	response to DNA damage stimulus; negative regulation of DNA replication; peptidyl-serine phosphorylation; cellular response to UV; positive regulation of DNA damage response; signal transduction by p53 class mediator; protein autophosphorylation; regulation of protein binding; DNA damage checkpoint; DNA damage checkpoint; cellular response to gamma radiation; DNA repair; protein phosphorylation; replicative senescence; phosphorylation
Cellular Component (2)	nucleus; XY body
Molecular Function (10)	protein serine/threonine kinase activity; protein kinase activity; protein kinase activity; protein kinase activity; transferase activity; kinase activity; ATP binding; nucleotide binding; MutLalpha complex binding; MutSalpha complex binding

FACS-Sorted Hair Cells

Data | Chart

	E16a	E16b	P0	P4	P7	P16
Utricle GFP+ cells	151	72	55	140	153	39
Cochlea GFP+ cells	154	190	134	125	127	NA
Utricle GFP- cells	167	151	126	151	90	47
Cochlea GFP- cells	191	177	115	184	176	NA

Analysis

Condition A	Mean A	Condition B	Mean B	Fold Change (B/A)	False Discovery Rate (FDR)
GFP-	143	GFP+	122	0.85	0.971
Utricle	112	Cochlea	157	1.40	1
Embryonic	157	Postnatal	119	0.76	0.989

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)
17520439	11.95 ± 0.25	14.55 ± 3.60 [19.02]	1.22	0.614

Otic Progenitor Cells

Data

Growth Factor	Replicate 1	Replicate 2	Replicate 3	Mean
bFGF	603	626	529	499
No bFGF	791	730	576	588
EGF	478	493	459	477

Analysis

Condition A	Mean A	Condition B	Mean B	Fold Change (B/A)	False Discovery Rate (FDR)
bFGF	499	No bFGF	588	1.18	1
bFGF	499	EGF	477	0.96	0.799
No bFGF	588	EGF	477	0.81	0.132

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: 1427197_at

Age	E12	E13	E16	P0	P6	P15
Spiral ganglion
Replicate 1	1476.63	1790.32	1075.76	1221.63	1574.7	1627.23
Replicate 1 Call	P	P	P	P	P	P
Replicate 2	1603.39	1975.91	1129.48	1722.63	1640.77	1467.22
Replicate 2 Call	P	P	P	P	P	P
Replicate 3	1700.2	1993.58	1006.62	1111.87	2084.87	1110.74
Replicate 3 Call	P	P	P	P	P	P
Replicate 4			1331.06	1110.15	1687.05	1447.42
Replicate 4 Call			P	P	P	P
Mean	1593.41	1919.94	1135.73	1291.57	1746.85	1413.15
Standard Deviation	112.12	112.6	139.59	292.07	230.02	217.09
Log2 Mean	10.64	10.91	10.14	10.31	10.76	10.45
Log2 Standard Deviation	0.1	0.09	0.17	0.3	0.18	0.23

Vestibular ganglion
Replicate 1	1559.85	1845.97	1923.04	1957.36	2211.31	1621.1
Replicate 1 Call	P	P	P	P	P	P
Replicate 2	1479.04	1872.49	1780.94	1327.52	2051.84	1968.26
Replicate 2 Call	P	P	P	P	P	P
Replicate 3	1381.76	1726.76	2141.61	1390.85	2158.96	1911.83
Replicate 3 Call	P	P	P	P	P	P
Mean	1473.55	1815.07	1948.53	1558.58	2140.7	1833.73
Standard Deviation	89.17	77.62	181.68	346.81	81.29	186.29
Log2 Mean	10.52	10.82	10.92	10.58	11.06	10.84
Log2 Standard Deviation	0.09	0.06	0.13	0.31	0.06	0.15

GENE VIEW

Atr