|Institutional Source||Beutler Lab|
|Gene Name||ATPase, Na+/K+ transporting, alpha 3 polypeptide|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0254 (G1)|
|Chromosomal Location||24978167-25005958 bp(-) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||T to C at 24981512 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000143735 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000080882] [ENSMUST00000102858] [ENSMUST00000196684]|
|Coding Region Coverage||
|Validation Efficiency||100% (100/100)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a mutation in this gene display neonatal lethality. Heterozygous mice display hyperactivity, increased activity in responses to methamphetamine, and impaired spatial learning. Mice heterozygous for an ENU mutation exhibit convulsive and vestibular stress induced seizures. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Atp1a3||
(F):5'- CAAGAGGAGTCTCGACTTTGGTTGC -3'
(R):5'- TCATCATGGCTAACATCCCACTGC -3'
(F):5'- CGACTTTGGTTGCTTCGGC -3'
(R):5'- TAAGCCTGGCTGCTACTAAAG -3'