Manteia - Molecule gene

ENSMUSG00000040447

Mus musculus

Features

Gene ID:	ENSMUSG00000040447

Biological name :	Spns2

Synonyms :	2 / Q91VM4 / Spns2

Possible biological names infered from orthology :	Q8IVW8 / sphingolipid transporter 2

Species:	Mus musculus

Chr. number:	11
Strand:	-1
Band:	B4
Gene start:	72451638
Gene end:	72489904

Corresponding Affymetrix probe sets:	10388194 (MoGene1.0st) 1451601_a_at (Mouse Genome 430 2.0 Array)

Cross references:	Ensembl peptide - ENSMUSP00000044418 Ensembl peptide - ENSMUSP00000120722 NCBI entrez gene - 216892 See in Manteia. MGI - MGI:2384936 RefSeq - XM_017314460 RefSeq - NM_001276383 RefSeq - NM_153060 RefSeq - XM_006532934 RefSeq - XM_006532935 RefSeq - XM_006532936 RefSeq Peptide - NP_001263312 RefSeq Peptide - NP_694700 swissprot - F6WK70 swissprot - Q91VM4 Ensembl - ENSMUSG00000040447

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

Ortholog prediction (from Ensembl)

Ortholog name	ID	Species
SPNS2	ENSGALG00000001387	Gallus gallus
SPNS2	ENSG00000183018	Homo sapiens

Paralog prediction (from Ensembl)

Paralog name	ID	Similarity(%)
1 / Spns1 / Q8R0G7 / Q9H2V7* / sphingolipid transporter 1 (putative)*	ENSMUSG00000030741	47
3 / Spns3 / Q9D232 / Q6ZMD2* / sphingolipid transporter 3 (putative)*	ENSMUSG00000020798	41

Protein motifs (from Interpro)

Interpro ID	Name
IPR011701	Major facilitator superfamily
IPR020846	Major facilitator superfamily domain
IPR036259	MFS transporter superfamily

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
biological_process	GO:0001782	B cell homeostasis	IMP
biological_process	GO:0002260	lymphocyte homeostasis	IMP
biological_process	GO:0002920	regulation of humoral immune response	IMP
biological_process	GO:0003376	sphingosine-1-phosphate signaling pathway	IMP
biological_process	GO:0006665	sphingolipid metabolic process	IMP
biological_process	GO:0006869	lipid transport	IEA
biological_process	GO:0043029	T cell homeostasis	IMP
biological_process	GO:0048073	regulation of eye pigmentation	IMP
biological_process	GO:0048535	lymph node development	IMP
biological_process	GO:0055085	transmembrane transport	IEA
biological_process	GO:0060348	bone development	IMP
biological_process	GO:0072676	lymphocyte migration	IMP
cellular_component	GO:0005765	lysosomal membrane	IBA
cellular_component	GO:0016020	membrane	IEA
cellular_component	GO:0016021	integral component of membrane	IEA
cellular_component	GO:0031982	vesicle	IBA
molecular_function	GO:0046624	sphingolipid transporter activity	IDA

Pathways (from Reactome)

Pathway description

No match

Phenotype (from MGI, Zfin or HPO)

ID	Phenotype	Definition	Genetic BG
MP:0000062	increased bone density	"increased mineral content of bone; indicator of bone strength" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61295]	Show Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: B6JTyr;B6N-Spns2^{tm1a(KOMP)Wtsi}/Wtsi
MP:0000150	abnormal rib morphology	"malformed bones forming the bony wall of the chest" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:50311]	Show Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: B6JTyr;B6N-Spns2^{tm1a(KOMP)Wtsi}/Wtsi
MP:0000217	abnormal white blood cell count	"anomalies in the number of leukocytes" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Agl^{tm1a(EUCOMM)Wtsi}/Agl^{tm1a(EUCOMM)Wtsi} Genetic Background: involves: C57BL/6N
MP:0000220	increased monocyte count	"greater than normal monocyte numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Spns2^{tm1b(KOMP)Wtsi}/Spns2^{tm1b(KOMP)Wtsi} Genetic Background: B6Brd;B6Dnk;B6N-Tyr^c-Brd-Spns2^{tm1b(KOMP)Wtsi}/WtsiH Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0000221	decreased WBC count	"fewer than normal numbers of WBCs" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Spns2^tm1.2Nmoc/Spns2^tm1.2Nmoc Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj Allelic Composition: Spns2^tm1Tni/Spns2^tm1Tni Genetic Background: B6.Cg-Spns2^tm1Tni Allelic Composition: Spns2^{tm1b(KOMP)Wtsi}/Spns2^{tm1b(KOMP)Wtsi} Genetic Background: B6Brd;B6Dnk;B6N-Tyr^c-Brd-Spns2^{tm1b(KOMP)Wtsi}/WtsiH Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: B6JTyr;B6N-Spns2^{tm1a(KOMP)Wtsi}/Wtsi Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0000223	decreased monocyte count	"fewer than normal monocyte numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Spns2^tm1Tni/Spns2^tm1Tni Genetic Background: B6.Cg-Spns2^tm1Tni
MP:0000322	increased granulocyte number	"greater than expected number of leukocytes that have abundant granules in the cytoplasm: basophils, neutrophils, or eosinophils" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Smurf2^{tm1b(EUCOMM)Wtsi}/Smurf2^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smurf2^{tm1b(EUCOMM)Wtsi}/H Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0000703	abnormal thymus morphology	"anomalous structure or development of the primary lymphoid organ; required for immune system development" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:55400]	Show Allelic Composition: Agl^{tm1a(EUCOMM)Wtsi}/Agl^{tm1a(EUCOMM)Wtsi} Genetic Background: involves: C57BL/6N
MP:0000715	decreased thymocyte number	"fewer than expected number of precursors to T cells; these cells are lymphoid cells found in the thymus " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]	Show Allelic Composition: Spns2^tm1Tni/Spns2^tm1Tni Genetic Background: B6.Cg-Spns2^tm1Tni
MP:0001262	decreased body weight	"lower than normal average weight " [J:61295]	Show Allelic Composition: Agl^{tm1a(EUCOMM)Wtsi}/Agl^{tm1a(EUCOMM)Wtsi} Genetic Background: involves: C57BL/6N
MP:0001297	microphthalmia	"reduced average size of the eyes" [J:18048]	Show Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0001302	eyelids open at birth	"widely open eyes instead of closed at perinatal stage" [J:51966]	Show Allelic Composition: Agl^{tm1a(EUCOMM)Wtsi}/Agl^{tm1a(EUCOMM)Wtsi} Genetic Background: involves: C57BL/6N
MP:0001304	cataracts	"complete or partial opacity of the lens" [J:65031]	Show Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0001306	small lens	"reduced size of the transparent structure of the eye responsible for focusing light rays" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]	Show Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0001312	abnormal cornea morphology	"malformation or absence of the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Smurf2^{tm1b(EUCOMM)Wtsi}/Smurf2^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smurf2^{tm1b(EUCOMM)Wtsi}/H Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: B6JTyr;B6N-Spns2^{tm1a(KOMP)Wtsi}/Wtsi Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0001313	increased incidence of corneal inflammation	"greater than average and persistent occurrence of corneal irritation" [J:4606]	Show Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0001314	corneal opacity	"complete or partial clouding of the cornea" [jte:Janan T. Eppig , Mouse Genome Informatics, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Smurf2^{tm1b(EUCOMM)Wtsi}/Smurf2^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smurf2^{tm1b(EUCOMM)Wtsi}/H Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: B6JTyr;B6N-Spns2^{tm1a(KOMP)Wtsi}/Wtsi Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0001317	abnormal pupil morphology	"structural anomaly of the central circular aperture of the iris through which light rays enter the eye" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0001322	abnormal iris morphology	"structural anomaly of the adjustable membrane, composed of the stroma and pigmented epithelium, located just in front of the crystalline lens within the eye" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: B6JTyr;B6N-Spns2^{tm1a(KOMP)Wtsi}/Wtsi Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0001324	abnormal eye pigmentation	"change in the normal black pigmentation of the eye to another color, or lack of color" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: B6JTyr;B6N-Spns2^{tm1a(KOMP)Wtsi}/Wtsi Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0001325	abnormal retina morphology	"structural or developmental anomaly of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0001349	excessive tearing	"an unusually high amount of fluid secreted by the lacrimal glands, often resulting in overflow of fluid from the eye" [hdene:Howard Dene, Mouse Genome Informatics Curator, J:38104]	Show Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: B6JTyr;B6N-Spns2^{tm1a(KOMP)Wtsi}/Wtsi
MP:0001512	trunk curl	"posture of the trunk in a curled position" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]	Show Allelic Composition: Smurf2^{tm1b(EUCOMM)Wtsi}/Smurf2^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smurf2^{tm1b(EUCOMM)Wtsi}/H
MP:0001800	abnormal humoral immune response	"abnormal immune function mediated by antibodies" [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]	Show Allelic Composition: Sms^{tm1a(EUCOMM)Wtsi}/Y Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0001805	decreased IgG	"less than normal immunoglobulin class G level" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0002092	abnormal eye morphology	"abnormal development of the eye tissues resulting in morphological abnormality or abnormal structure of the visual system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Sparc^{tm1a(EUCOMM)Wtsi}/Sparc^{tm1a(EUCOMM)Wtsi} Genetic Background: B6JTyr;B6N-Sparc^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0002412	increased susceptibility to bacterial infection	"greater likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0002435	abnormal effector T cell morphology/development	"anomalous structure, formation, or numbers of the set of T lymphocytes that are able to respond immediately upon contact with cells bearing the appropriate peptide:MHC complex for the cell" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Peg3^tm1.1Jkim/Peg3⁺ Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * C57BL/6J
MP:0002444	abnormal T cell physiology	"anomalous response of T lymphocytes" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Peg3^tm1.1Jkim/Peg3⁺ Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * C57BL/6J Allelic Composition: Spns2^tm1.2Nmoc/Spns2^tm1.2Nmoc Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj
MP:0002459	abnormal B cell physiology	"abnormal function of B lymphocytes" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Peg3^tm1.1Jkim/Peg3⁺ Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * C57BL/6J Allelic Composition: Spns2^tm1.2Nmoc/Spns2^tm1.2Nmoc Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj
MP:0002590	increased mean corpuscular volume	"greater than the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Spns2^{tm1b(KOMP)Wtsi}/Spns2^{tm1b(KOMP)Wtsi} Genetic Background: B6Brd;B6Dnk;B6N-Tyr^c-Brd-Spns2^{tm1b(KOMP)Wtsi}/WtsiH
MP:0002697	abnormal eye size	"anomalous bulk of the organ of vision" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: B6JTyr;B6N-Spns2^{tm1a(KOMP)Wtsi}/Wtsi
MP:0003019	increased circulating chloride level	"elevated concentration of chlorine salts in the circulation" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, RGD:Rat Genome Database submission]	Show Allelic Composition: Spns2^{tm1b(KOMP)Wtsi}/Spns2^{tm1b(KOMP)Wtsi} Genetic Background: B6Brd;B6Dnk;B6N-Tyr^c-Brd-Spns2^{tm1b(KOMP)Wtsi}/WtsiH
MP:0003671	abnormal eyelid opening		Show Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: B6JTyr;B6N-Spns2^{tm1a(KOMP)Wtsi}/Wtsi
MP:0004149	increased bone strength	"increased ability of bone to endure the application of force without yielding or breaking" [brs:Beverly Richards-Smith, Mouse Genome Informatics Curator]	Show Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0004221	abnormal iridocorneal angle	"any structural abnormality of the acute angle occurring between the iris and the cornea at the periphery of the anterior chamber of the eye" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0004647	decreased lumbar vertebrae number	"reduced number of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae" [MESH:National Library of Medicine_Medical Subject Headings]	Show Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: B6JTyr;B6N-Spns2^{tm1a(KOMP)Wtsi}/Wtsi
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: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0004924	abnormal behavior	"anomalies in the actions, reactions, or performance of an organism in response to external or internal stimuli compared to controls" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: B6JTyr;B6N-Spns2^{tm1a(KOMP)Wtsi}/Wtsi
MP:0004978	decreased B-1 B cell number	"reduced number of the subset of B cells found predominantly in the peritoneum, pleural cavities, and spleen, and enriched for self-reactivity" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Spns2^tm1.2Nmoc/Spns2^tm1.2Nmoc Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0005016	decreased lymphocyte number	"fewer than normal white blood cell numbers " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Spns2^tm1Tni/Spns2^tm1Tni Genetic Background: B6.Cg-Spns2^tm1Tni
MP:0005017	decreased B cell number	"fewer than normal B cell numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Myd88^tm1Hlz/Myd88^tm1Hlz,Lyz2^tm1(cre)Ifo/Lyz2⁺ Genetic Background: B6.129P2-Myd88^tm1Hlz Lyz2^tm1(cre)Ifo Allelic Composition: Spns2^{tm1b(KOMP)Wtsi}/Spns2^{tm1b(KOMP)Wtsi} Genetic Background: B6Brd;B6Dnk;B6N-Tyr^c-Brd-Spns2^{tm1b(KOMP)Wtsi}/WtsiH Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0005018	decreased T cell number	"fewer than normal T cell numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Spns2^{tm1b(KOMP)Wtsi}/Spns2^{tm1b(KOMP)Wtsi} Genetic Background: B6Brd;B6Dnk;B6N-Tyr^c-Brd-Spns2^{tm1b(KOMP)Wtsi}/WtsiH Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0005099	abnormal ciliary body morphology	"structural anomaly of the thickened portion of the vascular tunic, which lies between the choroid and the iris" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0005176	eyelids fail to open	"eyes remain shut throughout life" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:83500]	Show Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0005287	narrow eye opening	"less than the normal distance from one eyelid to the other " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:71350]	Show Allelic Composition: Spns2^{tm1b(KOMP)Wtsi}/Spns2^{tm1b(KOMP)Wtsi} Genetic Background: B6Brd;B6Dnk;B6N-Tyr^c-Brd-Spns2^{tm1b(KOMP)Wtsi}/WtsiH Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0005300	abnormal corneal stroma morphology	"structural anomaly of the lamellated connective tissue of the cornea" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0005344	increased circulating bilirubin level	"greater than the normal concentration in the blood of this yellow heme breakdown product" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:85204]	Show Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0005542	corneal vascularization	"formation of blood vessels in the cornea, which normally lacks vessels" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Spns2^{tm1b(KOMP)Wtsi}/Spns2^{tm1b(KOMP)Wtsi} Genetic Background: B6Brd;B6Dnk;B6N-Tyr^c-Brd-Spns2^{tm1b(KOMP)Wtsi}/WtsiH Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: B6JTyr;B6N-Spns2^{tm1a(KOMP)Wtsi}/Wtsi Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0005560	decreased circulating glucose level	"less than the normal concentration in the blood of this major monosaccharide of the body; it is an important energy source" [RGD:Rat Genome Database submission, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Spns2^{tm1b(KOMP)Wtsi}/Spns2^{tm1b(KOMP)Wtsi} Genetic Background: B6Brd;B6Dnk;B6N-Tyr^c-Brd-Spns2^{tm1b(KOMP)Wtsi}/WtsiH Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0005633	increased circulating sodium level	"greater than the normal concentration in the blood of this metallic element, the most plentiful extracellular ion in the body and the principal determinant of extracellular fluid volume" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]	Show Allelic Composition: Spns2^{tm1b(KOMP)Wtsi}/Spns2^{tm1b(KOMP)Wtsi} Genetic Background: B6Brd;B6Dnk;B6N-Tyr^c-Brd-Spns2^{tm1b(KOMP)Wtsi}/WtsiH
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: Spns2^{tm1b(KOMP)Wtsi}/Spns2^{tm1b(KOMP)Wtsi} Genetic Background: B6Brd;B6Dnk;B6N-Tyr^c-Brd-Spns2^{tm1b(KOMP)Wtsi}/WtsiH Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: B6JTyr;B6N-Spns2^{tm1a(KOMP)Wtsi}/Wtsi Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0008039	increased NK T cell number	"greater number of the distinct lineage of T cells expressing natural killer cell markers and having T cell receptors characterized by the usage of a restricted repertoire of variable region gene segments" [GO:0001865]	Show Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0008044	increased NK cell number	"greater number of non-T, non-B lymphocytes, having a granular morphology and which are important in innate immunity to viruses and other intracellular pathogens; in addition, these cells can kill certain tumor cells" [ISBN:0-8153-1691-7 "Immunobiology, The Immune System in Health and Disease"]	Show Allelic Composition: Spns2^{tm1b(KOMP)Wtsi}/Spns2^{tm1b(KOMP)Wtsi} Genetic Background: B6Brd;B6Dnk;B6N-Tyr^c-Brd-Spns2^{tm1b(KOMP)Wtsi}/WtsiH Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0008074	increased CD4-positive T cell number	"greater number of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Peg3^tm1.1Jkim/Peg3⁺ Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * C57BL/6J Allelic Composition: Spns2^tm1.2Nmoc/Spns2^tm1.2Nmoc Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj Allelic Composition: Spns2^{tm1b(KOMP)Wtsi}/Spns2^{tm1b(KOMP)Wtsi} Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * C57BL/6N Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0008075	decreased CD4-positive T cell number	"reduced number of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Peg3^tm1.1Jkim/Peg3⁺ Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * C57BL/6J Allelic Composition: Spns2^tm1.2Nmoc/Spns2^tm1.2Nmoc Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj Allelic Composition: Spns2^{tm1b(KOMP)Wtsi}/Spns2^{tm1b(KOMP)Wtsi} Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * C57BL/6N Allelic Composition: Spns2^{tm1b(KOMP)Wtsi}/Spns2^{tm1b(KOMP)Wtsi} Genetic Background: B6Brd;B6Dnk;B6N-Tyr^c-Brd-Spns2^{tm1b(KOMP)Wtsi}/WtsiH Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0008078	increased CD8-positive T cell number	"greater number of the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Peg3^tm1.1Jkim/Peg3⁺ Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * C57BL/6J Allelic Composition: Spns2^tm1.2Nmoc/Spns2^tm1.2Nmoc Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj Allelic Composition: Spns2^{tm1b(KOMP)Wtsi}/Spns2^{tm1b(KOMP)Wtsi} Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * C57BL/6N Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0008079	decreased CD8-positive T cell number	"reduction in the number of the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Peg3^tm1.1Jkim/Peg3⁺ Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * C57BL/6J Allelic Composition: Spns2^tm1.2Nmoc/Spns2^tm1.2Nmoc Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj Allelic Composition: Spns2^{tm1b(KOMP)Wtsi}/Spns2^{tm1b(KOMP)Wtsi} Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * C57BL/6N Allelic Composition: Spns2^{tm1b(KOMP)Wtsi}/Spns2^{tm1b(KOMP)Wtsi} Genetic Background: B6Brd;B6Dnk;B6N-Tyr^c-Brd-Spns2^{tm1b(KOMP)Wtsi}/WtsiH Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0008082	increased single-positive T cell number	"greater number of T cells bearing either CD4 or CD8 markers on their surface" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Spns2^tm1.2Nmoc/Spns2^tm1.2Nmoc Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj
MP:0008083	decreased single-positive T cell number	"reduced number of T cells bearing either CD4 or CD8 markers on their surface" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Spns2^tm1Tni/Spns2^tm1Tni Genetic Background: B6.Cg-Spns2^tm1Tni
MP:0008174	decreased follicular B cell number	"reduced number of resting mature B cells with distinct phenotypic characteristics (CD23-positive, CD21-positive) found typically in the B cell follicle region of the spleen and lymph nodes" [CL:0000843, ISBN:0781735149, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Spns2^tm1.2Nmoc/Spns2^tm1.2Nmoc Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0008211	decreased mature B cell number	"reduced number of the mature form of B cells, a type of lymphocyte whose defining characteristic is the expression of an immunoglobulin complex" [CL:0000785, ISBN:0781735149]	Show Allelic Composition: Peg3^tm1.1Jkim/Peg3⁺ Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * C57BL/6J Allelic Composition: Spns2^tm1.2Nmoc/Spns2^tm1.2Nmoc Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj Allelic Composition: Spns2^{tm1b(KOMP)Wtsi}/Spns2^{tm1b(KOMP)Wtsi} Genetic Background: B6Brd;B6Dnk;B6N-Tyr^c-Brd-Spns2^{tm1b(KOMP)Wtsi}/WtsiH Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0008215	decreased immature B cell number	"reduced number of the cells of the B lymphocyte lineage that have undergone VDJ rearrangement of the heavy chain and V-J rearrangement of the light chain; these cells express IgM on the cell surface but have not yet been selected for self-reactivity" [ISBN:0-8153-1691-7 "Immunobiology, The Immune System in Health and Disease", MGI:cwg "Carroll-Ann W. Goldsmith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Spns2^tm1.2Nmoc/Spns2^tm1.2Nmoc Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj
MP:0008495	decreased IgG1 level	"less than normal immunoglobulin class G1 level" [MGI:tmeehan "Terry Meehan, Mouse Genome Informatics Curator"]	Show Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0008770	decreased survivor rate	"a smaller percentage of organisms than expected survive to adulthood and have a lifespan similar to controls" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]	Show Allelic Composition: Spns2^tm1Tni/Spns2^tm1Tni Genetic Background: B6.Cg-Spns2^tm1Tni
MP:0009859	eye opacity	"changes in the eye grossly observed as a milky or cloudy appearance that may be progressive and persistent throughout life" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]	Show Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0009923	decreased transitional stage T1 B cell number	"reduced number of a type of transitional stage B cell that migrates from the bone marrow into the peripheral circulation, and finally to the spleen; this cell type has the phenotype surface IgM-positive, surface IgD-negative, CD21-negative, CD23-negative, and CD62L-negative" [PMID:12810111]	Show Allelic Composition: Spns2^tm1.2Nmoc/Spns2^tm1.2Nmoc Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj
MP:0010101	increased sacral vertebrae number	"increase of any or all of the four bony segments of the spine located posterior to the lumbar vertebrae and anterior to the caudal vertebrae" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: B6JTyr;B6N-Spns2^{tm1a(KOMP)Wtsi}/Wtsi
MP:0010123	increased bone mineral content	"elevation in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0010844	increased effector memory CD4-positive, alpha-beta T cell number	"increased number of CD4-positive, alpha-beta memory T cells with the phenotype CCR7-negative, CD127-positive, CD45RO-positive, and CD25-negative" [CL:0000905, GO_REF:0000031, GOC:add, GOC:pam, GOC:tfm]	Show Allelic Composition: Spns2^{tm1b(KOMP)Wtsi}/Spns2^{tm1b(KOMP)Wtsi} Genetic Background: B6Brd;B6Dnk;B6N-Tyr^c-Brd-Spns2^{tm1b(KOMP)Wtsi}/WtsiH
MP:0010850	increased effector memory CD8-positive, alpha-beta T cell number	"increased number of CD8-positive, alpha beta memory T cells with the phenotype CCR7-negative, CD127-positive, CD45RO-positive, and CD25-negative" [CL:0000913, GO_REF:0000031, GOC:add, GOC:pam, PMID:20146720]	Show Allelic Composition: Spns2^{tm1b(KOMP)Wtsi}/Spns2^{tm1b(KOMP)Wtsi} Genetic Background: B6Brd;B6Dnk;B6N-Tyr^c-Brd-Spns2^{tm1b(KOMP)Wtsi}/WtsiH
MP:0013393	symblepharon	"partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball" [MGI:Anna]	Show Allelic Composition: Spns2^tm1.2Nmoc/Spns2^tm1.2Nmoc Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj
MP:0013701	abnormal mature B cell number	"anomaly in the number of the mature form of B cells, a type of lymphocyte whose defining characteristic is the expression of an immunoglobulin complex" [CL:0000785]	Show Allelic Composition: Spns2^tm1Tni/Spns2^tm1Tni Genetic Background: B6.Cg-Spns2^tm1Tni
MP:0020117	decreased sphingosine level	"decreased concentrations of sphingosine, an 18-carbon amino alcohol with an unsaturated hydrocarbon chain, which forms a primary part of sphingolipids, a class of cell membrane lipids that include sphingomyelin, an important phospholipid" [GOC:NV, http://en.wikipedia.org/wiki/Sphingosine]	Show Allelic Composition: Spns2^tm1Tni/Spns2^tm1Tni Genetic Background: B6.Cg-Spns2^tm1Tni

Interacting proteins (from Reactome)

Interactor ID

Name

Interaction type

No match

1 s.

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