Manteia - Molecule gene

ENSMUSG00000024597

Mus musculus

Features

Gene ID:	ENSMUSG00000024597

Biological name :	Slc12a2

Synonyms :	Slc12a2 / solute carrier family 12 member 2

Possible biological names infered from orthology :	P55011

Species:	Mus musculus

Chr. number:	18
Strand:	1
Band:	D3
Gene start:	57878678
Gene end:	57946821

Corresponding Affymetrix probe sets:	10455873 (MoGene1.0st) 1417622_at (Mouse Genome 430 2.0 Array) 1417623_at (Mouse Genome 430 2.0 Array) 1448780_at (Mouse Genome 430 2.0 Array)

Cross references:	Ensembl peptide - ENSMUSP00000111023 NCBI entrez gene - 20496 See in Manteia. MGI - MGI:101924 RefSeq - NM_009194 RefSeq - XM_006525732 RefSeq Peptide - NP_033220 swissprot - E9QM38 Ensembl - ENSMUSG00000024597

See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed

Ortholog prediction (from Ensembl)

Ortholog name	ID	Species
CABZ01063543.1	ENSDARG00000113045	Danio rerio
slc12a2	ENSDARG00000104573	Danio rerio
SLC12A2	ENSGALG00000014690	Gallus gallus
P55011	ENSG00000064651	Homo sapiens

Paralog prediction (from Ensembl)

Paralog name	ID	Similarity(%)
Slc12a1 / solute carrier family 12, member 1 / Q13621*	ENSMUSG00000027202	57
P59158 / Slc12a3 / Solute carrier family 12 member 3 / P55017*	ENSMUSG00000031766	44
Q924N4 / Slc12a6 / Solute carrier family 12 member 6 / Q9UHW9*	ENSMUSG00000027130	24
Q9JIS8 / Slc12a4 / solute carrier family 12, member 4 / Q9UP95*	ENSMUSG00000017765	24
Q9WVL3 / Slc12a7 / solute carrier family 12, member 7 / Q9Y666*	ENSMUSG00000017756	24
Q91V14 / Slc12a5 / solute carrier family 12, member 5 / Q9H2X9*	ENSMUSG00000017740	23
Gm21985 / Q9UHW9* / SLC12A6* / solute carrier family 12 member 6*	ENSMUSG00000096764	22
Q99MR3 / Slc12a9 / Solute carrier family 12 member 9 / Q9BXP2*	ENSMUSG00000037344	20
Q8VI23 / Slc12a8 / solute carrier family 12 (potassium/chloride transporters), member 8 / A0AV02* / solute carrier family 12 member 8*	ENSMUSG00000035506	15

Protein motifs (from Interpro)

Interpro ID	Name
IPR002443	Na/K/Cl co-transporter
IPR002444	Na/K/Cl co-transporter 1
IPR004841	Amino acid permease/ SLC12A domain
IPR004842	SLC12A transporter family
IPR013612	Amino acid permease, N-terminal
IPR018491	SLC12A transporter, C-terminal
IPR036640	ABC transporter type 1, transmembrane domain superfamily

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
biological_process	GO:0006811	ion transport	IEA
biological_process	GO:0006813	potassium ion transport	IEA
biological_process	GO:0006814	sodium ion transport	IEA
biological_process	GO:0006821	chloride transport	IEA
biological_process	GO:0006972	hyperosmotic response	IEA
biological_process	GO:0007214	gamma-aminobutyric acid signaling pathway	IEA
biological_process	GO:0007568	aging	IEA
biological_process	GO:0015696	ammonium transport	IEA
biological_process	GO:0030321	transepithelial chloride transport	IEA
biological_process	GO:0045795	positive regulation of cell volume	IEA
biological_process	GO:0055085	transmembrane transport	IEA
biological_process	GO:0070634	transepithelial ammonium transport	IEA
biological_process	GO:0071805	potassium ion transmembrane transport	IEA
biological_process	GO:0072488	ammonium transmembrane transport	IEA
biological_process	GO:1902476	chloride transmembrane transport	IEA
cellular_component	GO:0005886	plasma membrane	IEA
cellular_component	GO:0016020	membrane	IEA
cellular_component	GO:0016021	integral component of membrane	IEA
molecular_function	GO:0005215	transporter activity	IEA
molecular_function	GO:0005524	ATP binding	IEA
molecular_function	GO:0008511	sodium:potassium:chloride symporter activity	IEA
molecular_function	GO:0008519	ammonium transmembrane transporter activity	IEA
molecular_function	GO:0015377	cation:chloride symporter activity	IEA
molecular_function	GO:0019901	protein kinase binding	IEA

Pathways (from Reactome)

Pathway description

Cation-coupled Chloride cotransporters

Phenotype (from MGI, Zfin or HPO)

ID	Phenotype	Definition	Genetic BG
MP:0000026	abnormal inner ear morphology	"malformation or malfunction of any components of the labyrinth, including the semicircular canals, vestibule and cochlea" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:1776]	Show Allelic Composition: Slc12a2^K842/Slc12a2^K842 Genetic Background: involves: FVB/N Allelic Composition: Slc12a2^tm1.1Jheb/Slc12a2^tm1.1Jheb,Foxg1^tm1(cre)Skm/Foxg1⁺ Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 Allelic Composition: Slc12a2^tm1.1Jheb/Slc12a2^tm1.1Jheb,Tbx1^tm6(cre)Bld/Tbx1⁺,Tg(Pax2-cre)1Akg/0 Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
MP:0000031	abnormal cochlea morphology	"any anomaly, deformity, malformation, impairment or dysfunction of the cochlea" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator, J:21484]	Show Allelic Composition: Slc12a2^tm1Dlp/Slc12a2^tm1Dlp Genetic Background: involves: 129S6/SvEvTac * C57BL/6
MP:0000033	absent cochlear duct	"missing spiral tube within the cochlea; contains the neuroepithelial receptor organ for hearing" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:23837]	Show Allelic Composition: Slc12a2^tm2Bhk/Slc12a2^tm2Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J
MP:0000034	abnormal vestibule morphology	"malformed cavity between the semicircular canals and the cochlea of the inner ear" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:1776]	Show Allelic Composition: Pld4^mpc96H/Pld4^mpc96H Genetic Background: involves: BALB/c * C3H/HeH * C57BL/6J
MP:0000035	abnormal membranous labyrinth	"malformations in the complex arrangement of communicating canaliculi and sacs suspended within the cavity of the bony labyrinth of the inner ear" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23837]	Show Allelic Composition: Hps5^ru2-r/Hps5^ru2-r Genetic Background: C57BL/10 Allelic Composition: Slc12a2^tm1Ges/Slc12a2^tm1Ges Genetic Background: Not Specified Allelic Composition: Slc12a2^tm2Bhk/Slc12a2^tm2Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J
MP:0000042	abnormal organ of Corti	"abnormalities associated with the highly specialized epithelium in the floor of the ductus cochlearis; also referred to a spiral organ (organum spirale), or acoustic papilla" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Slc12a2^tm1Dlp/Slc12a2^tm1Dlp Genetic Background: involves: 129S6/SvEvTac * C57BL/6 Allelic Composition: Slc12a2^tm2Bhk/Slc12a2^tm2Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J
MP:0000046	abnormal sulcus ampullaris morphology	"anomaly in the structure of the transverse groove on the membranous amupulla of each semicircular duct, where the nerve enters the ampullary crest" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Hps5^ru2-r/Hps5^ru2-r Genetic Background: C57BL/10
MP:0000048	abnormal stria vascularis	"anomalous structure of the layer of highly vascularized pigmented granular cells on the outer wall of the cochlear duct" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Hps5^ru2-r/Hps5^ru2-r Genetic Background: C57BL/10 Allelic Composition: Slc12a2^tm1Ges/Slc12a2^tm1Ges Genetic Background: Not Specified
MP:0000477	abnormal intestine morphology	"malformation of the digestive tube passing from the stomach to the anus" [J:48968]	Show Allelic Composition: Slc12a2^tm1Ges/Slc12a2^tm1Ges Genetic Background: Not Specified
MP:0000495	abnormal colon morphology	"malformation of the portion of the large intestine between the cecum and the rectum" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Slc12a2^tm1Ges/Slc12a2^tm1Ges Genetic Background: Not Specified
MP:0000500	small intestinal prolapse	"the sinking down of the intestinum tenue " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Slc12a2^tm1Ges/Slc12a2^tm1Ges Genetic Background: Not Specified
MP:0000510	remittent intestinal hemorrhage	"loss of blood from the intestines that is characterized by temporary periods of abatement" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Slc12a2^tm1Ges/Slc12a2^tm1Ges Genetic Background: Not Specified
MP:0000623	reduced salivation	"decrease flow, secretion, or amount of saliva" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Slc12a2^tm1Ges/Slc12a2^tm1Ges Genetic Background: Not Specified
MP:0000746	weakness	"state of being infirm or less strong than littermates" [J:45400]	Show Allelic Composition: Hps5^ru2-r/Hps5^ru2-r Genetic Background: C57BL/10
MP:0001081	abnormal cranial ganglia morphology	"any anomaly, deformity, or malformation of the groups of nerve cell bodies associated with the twelve cranial nerves" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:45302]	Show Allelic Composition: Slc12a2^tm1Ges/Slc12a2^tm1Ges Genetic Background: Not Specified
MP:0001147	small testis	"reduced size of the male reproductive glands" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:58959]	Show Allelic Composition: Slc12a2^tm1Bhk/Slc12a2^tm1Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J Allelic Composition: Slc12a2^tm2Bhk/Slc12a2^tm2Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J
MP:0001156	abnormal spermatogenesis	"incomplete maturation or aberrant formation of the male gametes" [J:58959]	Show Allelic Composition: Slc12a2^tm1Bhk/Slc12a2^tm1Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J Allelic Composition: Slc12a2^tm2Bhk/Slc12a2^tm2Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J
MP:0001262	decreased body weight	"lower than normal average weight " [J:61295]	Show Allelic Composition: Slc12a2^tm1Bhk/Slc12a2^tm1Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J Allelic Composition: Slc12a2^tm2Bhk/Slc12a2^tm2Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J
MP:0001265	reduced body size	"smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]	Show Allelic Composition: Slc12a2^tm1Dlp/Slc12a2^tm1Dlp Genetic Background: involves: 129S6/SvEvTac * C57BL/6 Allelic Composition: Slc12a2^tm1Bhk/Slc12a2^tm1Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J Allelic Composition: Slc12a2^tm2Bhk/Slc12a2^tm2Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J
MP:0001380	male reduced copulation without impotence	"males do not initiate sexual behavior as scored by the presence of copulation plugs (not due to infertility)" [J:57125]	Show Allelic Composition: Slc12a2^tm1Bhk/Slc12a2^tm1Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J Allelic Composition: Slc12a2^tm2Bhk/Slc12a2^tm2Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J
MP:0001386	abnormal maternal nurturing	"failure of mothers to tend offspring" [J:39801]	Show Allelic Composition: Slc12a2^tm2Bhk/Slc12a2^tm2Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J
MP:0001393	ataxia	"inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]	Show Allelic Composition: Slc12a2^tm1Bhk/Slc12a2^tm1Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J Allelic Composition: Slc12a2^tm2Bhk/Slc12a2^tm2Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J
MP:0001394	circling	"repeated, compulsive movement in a circle; often associated with inner ear defects" [MGI:CLS, J:61295]	Show Allelic Composition: Hps5^ru2-r/Hps5^ru2-r Genetic Background: C57BL/10 Allelic Composition: Slc12a2^tm1Dlp/Slc12a2^tm1Dlp Genetic Background: involves: 129S6/SvEvTac * C57BL/6 Allelic Composition: Slc12a2^tm1Ges/Slc12a2^tm1Ges Genetic Background: Not Specified Allelic Composition: Slc12a2^sy-ns/sy Genetic Background: involves: C57BL/6 * MK/ReJ Allelic Composition: Slc12a2^K842/Slc12a2^K842 Genetic Background: involves: FVB/N Allelic Composition: Slc12a2^tm1.1Jheb/Slc12a2^tm1.1Jheb,Foxg1^tm1(cre)Skm/Foxg1⁺ Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 Allelic Composition: Slc12a2^tm1.1Jheb/Slc12a2^tm1.1Jheb,Tbx1^tm6(cre)Bld/Tbx1⁺,Tg(Pax2-cre)1Akg/0 Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
MP:0001396	unidirectional circling	"circling behavior in one direction only, either clockwise or counterclockwise" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]	Show Allelic Composition: Slc12a2^tm1Bhk/Slc12a2^tm1Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J Allelic Composition: Slc12a2^tm2Bhk/Slc12a2^tm2Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J
MP:0001399	hyperactivity	"general restlessness or excessive movement; more frequent movement from one place to another" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409, J:57125]	Show Allelic Composition: Hps5^ru2-r/Hps5^ru2-r Genetic Background: C57BL/10 Allelic Composition: Slc12a2^tm1Bhk/Slc12a2^tm1Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J Allelic Composition: Slc12a2^tm2Bhk/Slc12a2^tm2Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J Allelic Composition: Slc12a2^K842/Slc12a2^K842 Genetic Background: involves: FVB/N Allelic Composition: Slc12a2^tm1.1Jheb/Slc12a2^tm1.1Jheb,Foxg1^tm1(cre)Skm/Foxg1⁺ Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 Allelic Composition: Slc12a2^tm1.1Jheb/Slc12a2^tm1.1Jheb,Tbx1^tm6(cre)Bld/Tbx1⁺,Tg(Pax2-cre)1Akg/0 Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
MP:0001410	head bobbing	"compulsive up and down movement of the head" [J:17123]	Show Allelic Composition: Hps5^ru2-r/Hps5^ru2-r Genetic Background: C57BL/10 Allelic Composition: Slc12a2^tm1Dlp/Slc12a2^tm1Dlp Genetic Background: involves: 129S6/SvEvTac * C57BL/6 Allelic Composition: Slc12a2^tm1Ges/Slc12a2^tm1Ges Genetic Background: Not Specified Allelic Composition: Slc12a2^sy-ns/sy Genetic Background: involves: C57BL/6 * MK/ReJ
MP:0001411	spinning	"compulsive rolling of the body" [J:17123]	Show Allelic Composition: Slc12a2^tm1Ges/Slc12a2^tm1Ges Genetic Background: Not Specified
MP:0001516	abnormal motor coordination/ balance	"altered ability of an animal to maintain skillful and effective interaction of movements or maintenance of equilibrium" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Hps5^ru2-r/Hps5^ru2-r Genetic Background: C57BL/10 Allelic Composition: Slc12a2^tm1Ges/Slc12a2^tm1Ges Genetic Background: Not Specified
MP:0001525	impaired balance	"reduced ability of an animal to maintain equilibrium" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:64962, J:17123]	Show Allelic Composition: Slc12a2^K842/Slc12a2^K842 Genetic Background: involves: FVB/N
MP:0001732	postnatal growth retardation	"slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Hps5^ru2-r/Hps5^ru2-r Genetic Background: C57BL/10 Allelic Composition: Slc12a2^tm1Ges/Slc12a2^tm1Ges Genetic Background: Not Specified Allelic Composition: Slc12a2^tm1Bhk/Slc12a2^tm1Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J
MP:0001923	reduced female fertility	"reduced ability of female to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]	Show Allelic Composition: Slc12a2^tm1Bhk/Slc12a2^tm1Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J Allelic Composition: Slc12a2^tm2Bhk/Slc12a2^tm2Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J
MP:0001925	male infertility	"inability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]	Show Allelic Composition: Slc12a2^tm1Bhk/Slc12a2^tm1Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J Allelic Composition: Slc12a2^tm2Bhk/Slc12a2^tm2Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J
MP:0001963	abnormal hearing	"anomaly in the ability to receive auditory stimuli" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Slc12a2^tm1Bhk/Slc12a2^tm1Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J Allelic Composition: Slc12a2^tm2Bhk/Slc12a2^tm2Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J
MP:0001967	deafness	"inability to hear" [J:57651]	Show Allelic Composition: Hps5^ru2-r/Hps5^ru2-r Genetic Background: C57BL/10 Allelic Composition: Slc12a2^tm1Dlp/Slc12a2^tm1Dlp Genetic Background: involves: 129S6/SvEvTac * C57BL/6 Allelic Composition: Slc12a2^tm1Ges/Slc12a2^tm1Ges Genetic Background: Not Specified Allelic Composition: Slc12a2^sy-ns/sy Genetic Background: involves: C57BL/6 * MK/ReJ Allelic Composition: Slc12a2^K842/Slc12a2^K842 Genetic Background: involves: FVB/N Allelic Composition: Slc12a2^mpc246H/Slc12a2^mpc246H Genetic Background: involves: BALB/c * C3H/HeH * C57BL/6J
MP:0002102	abnormal ear morphology	"structural or developmental anomaly of any of the structures involved in the ear or vestibular system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Hps5^ru2-r/Hps5^ru2-r Genetic Background: C57BL/10
MP:0002428	abnormal semicircular canal	"anomaly of the organ of balance composed of three long bony tubes of the labyrinth" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Hps5^ru2-r/Hps5^ru2-r Genetic Background: C57BL/10
MP:0002843	decreased blood pressure	"decreased tension of the blood within the systemic arteries" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Slc12a2^tm1Ges/Slc12a2^tm1Ges Genetic Background: Not Specified
MP:0003149	abnormal tectorial membrane morphology	"malformation, malfunction or absence of the overlaying membrane of cochlear duct, an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells; sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads to fluctuations in hair cell membrane potential, transducing sound into electrical signals" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:77634]	Show Allelic Composition: Slc12a2^tm1Ges/Slc12a2^tm1Ges Genetic Background: Not Specified Allelic Composition: Slc12a2^tm2Bhk/Slc12a2^tm2Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J
MP:0003151	absent tunnel of Corti	"complete absence of the triangular, fluid-filled space normally found between the inner and outer rows of supporting pillar cells in the organ of Corti" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:32991]	Show Allelic Composition: Slc12a2^tm1Ges/Slc12a2^tm1Ges Genetic Background: Not Specified Allelic Composition: Slc12a2^tm2Bhk/Slc12a2^tm2Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J
MP:0003169	abnormal scala media morphology	"any malformation or absence of the division of the spiral canal of the cochlea that contains the organ of Corti (the neuroepithelial receptor organ for hearing)" [J:23837, J:46972, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]	Show Allelic Composition: Slc12a2^tm1Ges/Slc12a2^tm1Ges Genetic Background: Not Specified
MP:0003878	abnormal ear physiology	"anomolous function of the ear, not due to an anatomical defect" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:100987]	Show Allelic Composition: Slc12a2^tm1Ges/Slc12a2^tm1Ges Genetic Background: Not Specified
MP:0004249	abnormal crista ampullaris morphology	"anomaly in the elevation found on the inner surface of the ampullae of each semicircular duct; filaments of the vestibular nerve pass through the crista to reach hair cells on its surface; the hair cells are capped by the cupula, a gelatinous protein-polysaccharide mass" [J:60193, MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Slc12a2^K842/Slc12a2^K842 Genetic Background: involves: FVB/N Allelic Composition: Slc12a2^tm1.1Jheb/Slc12a2^tm1.1Jheb,Foxg1^tm1(cre)Skm/Foxg1⁺ Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 Allelic Composition: Slc12a2^tm1.1Jheb/Slc12a2^tm1.1Jheb,Tbx1^tm6(cre)Bld/Tbx1⁺,Tg(Pax2-cre)1Akg/0 Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
MP:0004294	abnormal type II spiral ligament fibrocytes	"any structural abnormality of type II spiral ligament fibrocytes found in the suprastrial zone and the central area of the spiral ligament beneath the spiral prominence" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Slc12a2^tm2Bhk/Slc12a2^tm2Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J
MP:0004296	abnormal type IV spiral ligament fibrocytes	"any structural abnormality of type IV spiral ligament fibrocytes found in the triangular space inferior to the basilar crest" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Slc12a2^tm2Bhk/Slc12a2^tm2Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J
MP:0004300	abnormal supporting cell morphology	"any structural abnormality in the highly differentiated epithelial cells with distinctive morphological features surrounding the hair cells in the organ of Corti; inner hair cells (IHCs) are normally surrounded by (inner and outer) phalangeal cells while OHCs are in contact with Deiters and pillar cells; Hensen cells are positioned further laterally in the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Hps5^ru2-r/Hps5^ru2-r Genetic Background: C57BL/10 Allelic Composition: Slc12a2^tm2Bhk/Slc12a2^tm2Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J
MP:0004301	absent supporting cells	"absence of the highly differentiated epithelial cells with distinctive morphological features that surround all hair cells in the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Slc12a2^tm1Dlp/Slc12a2^tm1Dlp Genetic Background: involves: 129S6/SvEvTac * C57BL/6
MP:0004329	saccular degeneration	"degeneration or loss of the smaller of the two sacs in the vestibule" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Slc12a2^K842/Slc12a2^K842 Genetic Background: involves: FVB/N Allelic Composition: Slc12a2^tm1.1Jheb/Slc12a2^tm1.1Jheb,Foxg1^tm1(cre)Skm/Foxg1⁺ Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 Allelic Composition: Slc12a2^tm1.1Jheb/Slc12a2^tm1.1Jheb,Tbx1^tm6(cre)Bld/Tbx1⁺,Tg(Pax2-cre)1Akg/0 Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
MP:0004332	utricular degeneration	"degeneration or loss of the larger of the two sacs in the vestibule" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Slc12a2^K842/Slc12a2^K842 Genetic Background: involves: FVB/N Allelic Composition: Slc12a2^tm1.1Jheb/Slc12a2^tm1.1Jheb,Foxg1^tm1(cre)Skm/Foxg1⁺ Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 Allelic Composition: Slc12a2^tm1.1Jheb/Slc12a2^tm1.1Jheb,Tbx1^tm6(cre)Bld/Tbx1⁺,Tg(Pax2-cre)1Akg/0 Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
MP:0004366	abnormal strial marginal cells	"any structural abnormality in the polarized columnar cells of epithelial origin which cover the lateral surface of the cochlear duct, secrete potassium ions and form a continuous sheet in contact with the endolymph; marginal cells form extensive interdigitations with the basal and intermediate cells in the normal adult stria" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Slc12a2^tm1Ges/Slc12a2^tm1Ges Genetic Background: Not Specified Allelic Composition: Slc12a2^tm2Bhk/Slc12a2^tm2Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J
MP:0004393	abnormal cochlear inner hair cell morphology	"any structural abnormality in the sensory cells of the organ of Corti which are in synaptic contact with sensory as well as efferent fibers of the auditory nerve; there is a single row of flask-shaped inner hair cells tightly surrounded by supporting interphalangeal cells; the apical end of each cell is anchored to the cuticular plate and about 100 stereocilia arranged in a more or less linear (or shallow) U-shaped pattern extend from the cell s surface through the cuticular plate into the endolymphic space inferior to the tectorial membrane" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Slc12a2^tm2Bhk/Slc12a2^tm2Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J
MP:0004396	decreased cochlear inner hair cell number	"decreased number (or less than the expected single row) of the flask-shaped inner hair sensory cells of the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Slc12a2^tm1Ges/Slc12a2^tm1Ges Genetic Background: Not Specified
MP:0004402	decreased cochlear outer hair cell number	"decreased number (or less than the expected 3 rows) of the columnar outer hair sensory cells of the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Slc12a2^tm1Ges/Slc12a2^tm1Ges Genetic Background: Not Specified
MP:0004405	absent cochlear hair cells	"absence of the sensory epithelial cells of the cochlea; these cells are normally in synaptic contact with the auditory nerve" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Hps5^ru2-r/Hps5^ru2-r Genetic Background: C57BL/10 Allelic Composition: Slc12a2^tm1Dlp/Slc12a2^tm1Dlp Genetic Background: involves: 129S6/SvEvTac * C57BL/6
MP:0004482	abnormal interdental cell morphology	"any structural anomaly of the long, spindle-shaped cells arranged in parallel rows, oriented with their vertical axis perpendicular to the luminal surface of the spiral limbus; they secrete potassium ions into the endolymph and secrete the tectorial membrane" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Hps5^ru2-r/Hps5^ru2-r Genetic Background: C57BL/10 Allelic Composition: Slc12a2^tm2Bhk/Slc12a2^tm2Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J
MP:0004738	abnormal brainstem auditory evoked potential	"anomaly in the electrical activity generated in response to short tone bursts; may be used to evaluate sensorineural hearing function" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Slc12a2^tm1Ges/Slc12a2^tm1Ges Genetic Background: Not Specified
MP:0004901	decreased male germ cell number	"reduced numbers of male germ cells whether they are undifferentiated or fully differentiated" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Slc12a2^tm1Bhk/Slc12a2^tm1Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J Allelic Composition: Slc12a2^tm2Bhk/Slc12a2^tm2Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J
MP:0005159	azoospermia	"absence of living spermatozoa " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Slc12a2^tm1Bhk/Slc12a2^tm1Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J Allelic Composition: Slc12a2^tm2Bhk/Slc12a2^tm2Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J
MP:0005191	head tilt	"condition in which the portion of the body containing the brain and organs of sight, hearing, taste, and smell lists to the side" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Slc12a2^tm1Ges/Slc12a2^tm1Ges Genetic Background: Not Specified
MP:0005307	head tossing	"compulsive flailing of the head in multiple directions" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Slc12a2^tm1Bhk/Slc12a2^tm1Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J Allelic Composition: Slc12a2^tm2Bhk/Slc12a2^tm2Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J Allelic Composition: Slc12a2^K842/Slc12a2^K842 Genetic Background: involves: FVB/N
MP:0006021	abnormal Reissner membrane morphology	"any strutural alteration in Reissner s membrane which separates the cochlear duct from the vestibular canal, i.e. the endolymph of the scala media from the perilymph of the scala vestibuli; the Reissner membrane consists of squamous epithelial cells with microvilli toward the ductus, a basement membrane, and a thin layer of connective tissue toward the scala. " [smb:Susan M Bello, Mouse Genome Informatics Curator, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]	Show Allelic Composition: Slc12a2^tm2Bhk/Slc12a2^tm2Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J
MP:0006024	collapsed Reissner membrane	"the Reissner s membrane, which normally separates the scala media from the scala vestibuli, has collapsed onto the spiral limbus and the tectorial membrane of the organ of Corti" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, smb:Susan M Bello, Mouse Genome Informatics Curator, J:37461:]	Show Allelic Composition: Hps5^ru2-r/Hps5^ru2-r Genetic Background: C57BL/10 Allelic Composition: Slc12a2^tm1Dlp/Slc12a2^tm1Dlp Genetic Background: involves: 129S6/SvEvTac * C57BL/6 Allelic Composition: Slc12a2^tm1Ges/Slc12a2^tm1Ges Genetic Background: Not Specified Allelic Composition: Slc12a2^tm2Bhk/Slc12a2^tm2Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J Allelic Composition: Slc12a2^K842/Slc12a2^K842 Genetic Background: involves: FVB/N Allelic Composition: Slc12a2^tm1.1Jheb/Slc12a2^tm1.1Jheb,Foxg1^tm1(cre)Skm/Foxg1⁺ Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 Allelic Composition: Slc12a2^tm1.1Jheb/Slc12a2^tm1.1Jheb,Tbx1^tm6(cre)Bld/Tbx1⁺,Tg(Pax2-cre)1Akg/0 Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
MP:0006325	impaired hearing	"reduced ability to percieve auditory stimuli" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Bsnd^tm1Tjj/Bsnd^tm1Tjj,Foxg1^tm1(cre)Skm/Foxg1⁺ Genetic Background: involves: 129/Sv * 129P2/OlaHsd * 129X1/SvJ * C57BL/6
MP:0006331	abnormal patterning of the organ of Corti	"anomaly in the organization of the various cell types within the organ of Corti into a set number of distinct rows" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Slc12a2^tm2Bhk/Slc12a2^tm2Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J
MP:0006358	absent pinna reflex	"complete failure to respond to an auditory stimulus by a characteristic ear twitch" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Slc12a2^tm1Ges/Slc12a2^tm1Ges Genetic Background: Not Specified
MP:0006359	absent startle reflex	"failure to respond to variable stimuli, often auditory; usually measured by amplitude of whole body flinch" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Slc12a2^tm1Dlp/Slc12a2^tm1Dlp Genetic Background: involves: 129S6/SvEvTac * C57BL/6 Allelic Composition: Slc12a2^tm1Bhk/Slc12a2^tm1Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J Allelic Composition: Slc12a2^tm2Bhk/Slc12a2^tm2Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J
MP:0006380	abnormal spermatid morphology	"anomaly in the number or structure of the male germ cells that without further cell division give rise to mature spermatozoa" [ISBN:0-8036-0655-99 "Taber s Cyclopedic Medical Dictionary, 19th edition", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Slc12a2^tm1Bhk/Slc12a2^tm1Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J Allelic Composition: Slc12a2^tm2Bhk/Slc12a2^tm2Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J
MP:0009478	coiled cecum	"corkscrew or worm-like appearance of the large sac at the ileum and large intestine junction" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Slc12a2^tm1Ges/Slc12a2^tm1Ges Genetic Background: Not Specified
MP:0010025	decreased total body fat amount	"less than the normal total amount of connective tissue composed of fat cells within the entire body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Slc12a2^tm1Ges/Slc12a2^tm1Ges Genetic Background: Not Specified
MP:0011086	partial postnatal lethality	"the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]	Show Allelic Composition: Slc12a2^tm1Ges/Slc12a2^tm1Ges Genetic Background: Not Specified
MP:0011739	abnormal Boettcher cell morphology	"any structural anomaly of the polyhedral cells located on the basilar membrane beneath the Claudius cells in the basal turn of the cochlea, and considered supporting cells for the organ of Corti; Boettcher cells interweave with each other, project microvilli into the intercellular space, show high levels of calmodulin, and may be involved in mediating Ca(2+) regulation and ion transport" [CL:0002084, MGI:anna]	Show Allelic Composition: Slc12a2^tm2Bhk/Slc12a2^tm2Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J
MP:0011967	increased or absent threshold for auditory brainstem response	"increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency or broadband click" [MGI:csmith]	Show Allelic Composition: Hps5^ru2-r/Hps5^ru2-r Genetic Background: C57BL/10 Allelic Composition: Slc12a2^sy-ns/sy Genetic Background: involves: C57BL/6 * MK/ReJ Allelic Composition: Slc12a2^tm2Bhk/Slc12a2^tm2Bhk Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Interacting proteins (from Reactome)

Interactor ID

Name

Interaction type

No match

0 s.

External programs and data are copyrighted by and are the property of their respective authors. The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation
		© Olivier Tassy / Olivier Pourquie 2007-2024 contact: otassy@igbmc.fr