Manteia - Molecule gene

ENSMUSG00000047281

Mus musculus

Features

Gene ID:	ENSMUSG00000047281

Biological name :	Sfn

Synonyms :	O70456 / Sfn / stratifin

Possible biological names infered from orthology :	P31947

Species:	Mus musculus

Chr. number:	4
Strand:	-1
Band:	D2.3
Gene start:	133600556
Gene end:	133602168

Corresponding Affymetrix probe sets:	10517067 (MoGene1.0st) 10572635 (MoGene1.0st) 1448612_at (Mouse Genome 430 2.0 Array)

Cross references:	Ensembl peptide - ENSMUSP00000050374 NCBI entrez gene - 55948 See in Manteia. MGI - MGI:1891831 RefSeq - NM_018754 RefSeq Peptide - NP_061224 swissprot - O70456 Ensembl - ENSMUSG00000047281

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

Ortholog prediction (from Ensembl)

Ortholog name	ID	Species
ywhaqa	ENSDARG00000042539	Danio rerio
ywhaqb	ENSDARG00000023323	Danio rerio
SFN	ENSGALG00000028115	Gallus gallus
SFN	ENSG00000175793	Homo sapiens

Paralog prediction (from Ensembl)

Paralog name	ID	Similarity(%)
Ywhaq / P68254 / tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein theta	ENSMUSG00000076432	71
Ywhaz / P63101 / tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide	ENSMUSG00000022285	70
Ywhab / Q9CQV8 / tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide / P31946* / tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta*	ENSMUSG00000018326	66
Ywhah / P68510 / tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide / Q04917* / tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta*	ENSMUSG00000018965	63
Ywhag / P61982 / tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide / P61981* / tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma*	ENSMUSG00000051391	63
Ywhae / P62259 / tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide / P62258* / tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation prote...	ENSMUSG00000020849	60

Protein motifs (from Interpro)

Interpro ID	Name
IPR000308	14-3-3 protein
IPR023409	14-3-3 protein, conserved site
IPR023410	14-3-3 domain
IPR036815	14-3-3 domain superfamily
IPR037435	14-3-3 protein sigma

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
biological_process	GO:0000079	regulation of cyclin-dependent protein serine/threonine kinase activity	IDA
biological_process	GO:0001836	release of cytochrome c from mitochondria	IEA
biological_process	GO:0003334	keratinocyte development	IGI
biological_process	GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	IEA
biological_process	GO:0010482	regulation of epidermal cell division	IMP
biological_process	GO:0010839	negative regulation of keratinocyte proliferation	IGI
biological_process	GO:0030216	keratinocyte differentiation	IMP
biological_process	GO:0030307	positive regulation of cell growth	IDA
biological_process	GO:0031424	keratinization	IMP
biological_process	GO:0043154	negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	IEA
biological_process	GO:0043588	skin development	IMP
biological_process	GO:0045606	positive regulation of epidermal cell differentiation	IMP
biological_process	GO:0046827	positive regulation of protein export from nucleus	IDA
biological_process	GO:0051726	regulation of cell cycle	IDA
biological_process	GO:0061436	establishment of skin barrier	IMP
cellular_component	GO:0005576	extracellular region	IEA
cellular_component	GO:0005634	nucleus	IEA
cellular_component	GO:0005737	cytoplasm	IEA
cellular_component	GO:0005829	cytosol	IEA
cellular_component	GO:0030659	cytoplasmic vesicle membrane	TAS
molecular_function	GO:0005515	protein binding	IPI
molecular_function	GO:0019901	protein kinase binding	IDA
molecular_function	GO:0019904	protein domain specific binding	IEA
molecular_function	GO:0042802	identical protein binding	IEA
molecular_function	GO:0045296	cadherin binding	IEA
molecular_function	GO:0051219	phosphoprotein binding	IPI

Pathways (from Reactome)

Pathway description

Activation of BAD and translocation to mitochondria

Translocation of SLC2A4 (GLUT4) to the plasma membrane

RHO GTPases activate PKNs

TP53 Regulates Metabolic Genes

TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest

Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex

Phenotype (from MGI, Zfin or HPO)

ID	Phenotype	Definition	Genetic BG
MP:0000018	small ears	"outer ears of a smaller than normal size" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J
MP:0000111	cleft palate	"congenital fissure of the tissues normally uniting to form the palate" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]	Show Allelic Composition: Fbxo11^Jf/Fbxo11^Mutt Genetic Background: involves: BALB/c * C3H/HeN Allelic Composition: Kdf1^shd/Kdf1⁺,Sfn^Er/Sfn⁺ Genetic Background: involves: C3HeB/FeJ * C57BL/6J
MP:0000160	kyphosis	"forward curvature of the spine, characterized by extensive flexion. " [J:62023, J:66943, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J
MP:0000351	increased cell proliferation	"greater than the normal growth and reproduction of similar cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Galc^twi/Galc^twi,Il6^tm1Kopf/Il6^tm1Kopf Genetic Background: involves: 129S2/SvPas * C57BL/6J * CE/J
MP:0000379	reduced hair follicle number	"fewer number of the epidermal invaginations from which the hair shaft develops" [J:15108]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J
MP:0000384	distorted hair follicle pattern	"twisted or contorted configuration of the arrangement of hair follicles in the skin" [J:56777]	Show Allelic Composition: Sfn^Er/Sfn^Er Genetic Background: involves: C57BL/6By
MP:0000416	sparse fur	"fur that is significantly less dense" [J:46854]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J
MP:0000432	abnormal head morphology	"anomalous structure or development of the portion of the body containing the brain and organs of sight, hearing, taste, and smell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J
MP:0000433	microcephaly	"an abnormally small head" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J
MP:0000445	short snout	"reduced length of the anterior facial part of the muzzle" [J:53370]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J
MP:0000447	flattened snout		Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J
MP:0000452	abnormal mouth morphology	"anomalous structure or development of the oral cavity" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Irf6^tm1Mjd/Irf6⁺,Sfn^Er/Sfn⁺ Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
MP:0000454	abnormal jaw morphology	"malformation of the bony framework of the mouth where the teeth are held" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J
MP:0000458	abnormal mandible morphology	"malformation of the lower bony framework of the mouth where the inferior teeth are held" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J
MP:0000547	short limbs	"reduced average length of the extremities" [MGI:CLS, J:61509]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J Allelic Composition: Sfn^Er/Sfn^Er Genetic Background: B6CBACa A^w-J/A-Sfn^Er/J
MP:0000552	abnormal radius morphology	"malformation of the short bone of the lateral forearm" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J
MP:0000564	syndactyly	"any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Irf6^tm1Mjd/Irf6⁺,Sfn^Er/Sfn⁺ Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 Allelic Composition: Sfn^Er/Sfn^Er Genetic Background: involves: C57BL/6By
MP:0000585	kinked tail	"a sharp bend or zig-zag in the tail" [J:61295]	Show Allelic Composition: Irf6^tm1Mjd/Irf6⁺,Sfn^Er/Sfn⁺ Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 Allelic Composition: Sfn^Er/Sfn^Er Genetic Background: involves: C57BL/6By
MP:0000592	short tail	"reduced length of tail compared to control " [J:55583]	Show Allelic Composition: Sfn^Er/Sfn^Er Genetic Background: B6CBACa A^w-J/A-Sfn^Er/J Allelic Composition: Sfn^Er/Sfn^Er Genetic Background: involves: C57BL/6By
MP:0000598	abnormal liver morphology	"malformation or absence of this bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:23170]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J
MP:0000689	abnormal spleen morphology	"atypical structure of the organ that functions to filter blood and to store red corpuscles and platelets" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:27463]	Show Allelic Composition: Fasl^tm1.1Cgm/Fasl^tm1.1Cgm Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6N
MP:0000762	abnormal tongue morphology	"anomalous structure or development of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J
MP:0001196	shiny skin	"skin with a glossy or glistening appearance" [J:56641]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J Allelic Composition: Sfn^Er/Sfn^Er Genetic Background: B6CBACa A^w-J/A-Sfn^Er/J
MP:0001199	thin skin	"reduced thickness of the outer protective layer of the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49471]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J
MP:0001216	abnormal epidermal layer morphology	"anomalous structure or development of the superficial epithelial portion of the skin" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J Allelic Composition: Irf6^tm1Mjd/Irf6⁺,Sfn^Er/Sfn⁺ Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 Allelic Composition: Sfn^Er/Sfn^Er Genetic Background: involves: C57BL/6By
MP:0001218	thin epidermis	"reduced thickness of the superficial epithelial portion of the skin" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61790]	Show Allelic Composition: Sfn^Er/Sfn^Er Genetic Background: involves: C57BL/6By
MP:0001219	thickened epidermis	"increase in the width of the epidermal cell layer in the skin" [J:65146]	Show Allelic Composition: Irf6^tm1Mjd/Irf6⁺,Sfn^Er/Sfn⁺ Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 Allelic Composition: Sfn^Er/Sfn^Er Genetic Background: B6CBACa A^w-J/A-Sfn^Er/J Allelic Composition: Sfn^Er/Sfn^Er Genetic Background: involves: C57BL/6By Allelic Composition: Kdf1^shd/Kdf1⁺,Sfn^Er/Sfn⁺ Genetic Background: involves: C3HeB/FeJ * C57BL/6J
MP:0001222	epidermal hyperplasia	"increase in size of the epidermis due to increase in epidermal cell number" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:65146]	Show Allelic Composition: Sfn^Er/Sfn^Er Genetic Background: B6CBACa A^w-J/A-Sfn^Er/J
MP:0001231	abnormal basal cell layer morphology	"structural anomaly of the deepest layer of the epidermis, which is composed of dividing stem cells and anchoring cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J Allelic Composition: Sfn^Er/Sfn^Er Genetic Background: involves: C57BL/6By
MP:0001233	abnormal suprabasal layer morphology	"malformed or atypical condition of the suprabasal layer of the skin" [J:56777]	Show Allelic Composition: Irf6^tm1Mjd/Irf6⁺,Sfn^Er/Sfn⁺ Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
MP:0001236	abnormal spinous layer morphology	"structual or developmental anomaly of the layer of polyhedral cells in the epidermis; shrinkage and adhesion of these cells gives a spiny or prickly appearance" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Sfn^Er/Sfn^Er Genetic Background: involves: C57BL/6By
MP:0001239	abnormal granular layer morphology	"structural or developmental anomaly of the layer of flattened cells containing basophilic granules of keratohyalin and lying just above the stratum spinosum (spiny layer) of the epidermis" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J
MP:0001240	abnormal cornified layer morphology	"structural or developmental anomaly of the outer layer of the epidermis, consisting of several layers of flat keratinized non-nucleated cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J Allelic Composition: Kdf1^shd/Kdf1⁺,Sfn^Er/Sfn⁺ Genetic Background: involves: C3HeB/FeJ * C57BL/6J
MP:0001241	absent cornified layer	"missing the outer layer of the epidermis, composed of several layers of keratinized non-nucleated cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Irf6^tm1Mjd/Irf6⁺,Sfn^Er/Sfn⁺ Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 Allelic Composition: Sfn^Er/Sfn^Er Genetic Background: B6CBACa A^w-J/A-Sfn^Er/J
MP:0001297	microphthalmia	"reduced average size of the eyes" [J:18048]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J Allelic Composition: Sfn^Er/Sfn^Er Genetic Background: involves: C57BL/6By
MP:0001340	abnormal eyelid morphology	"malformation of the skin folds covering the front of the eyeball" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Sfn^Er/Sfn^Er Genetic Background: involves: C57BL/6By
MP:0001539	decreased number of caudal vertebrae	"reduced number of the bony segments of the tail" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J
MP:0001676	abnormal apical ectodermal ridge	"malformation of the multilayered ectodermal region at the tip of a limb bud necessary for the proper development of the underlying mesenchyme" [MGI:tc]	Show Allelic Composition: Sfn^Er/Sfn^Er Genetic Background: involves: C57BL/6By
MP:0001732	postnatal growth retardation	"slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J
MP:0001805	decreased IgG	"less than normal immunoglobulin class G level" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Fasl^tm1.1Cgm/Fasl^tm1.1Cgm Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6N
MP:0001806	decreased IgM	"less than normal immunoglobulin class M level" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Fasl^tm1.1Cgm/Fasl^tm1.1Cgm Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6N
MP:0001953	respiratory failure	"cessation of or failure to commence breathing" [MGI:cls, J:60159]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J
MP:0001954	respiratory distress	"physical difficulty or inability to breathe" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54931]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J Allelic Composition: Sfn^Er/Sfn^Er Genetic Background: B6CBACa A^w-J/A-Sfn^Er/J
MP:0002051	skin papilloma	"a circumscribed, benign epithelial tumor projecting from the surrounding surface" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J
MP:0002060	abnormal skin morphology	"malformation or atypical structure of the membranous protective covering of the body" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:56777]	Show Allelic Composition: Irf6^tm1Mjd/Irf6⁺,Sfn^Er/Sfn⁺ Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
MP:0002111	abnormal tail morphology	"abnormal development of the tail resulting in structural abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Epas1^tm1Fong/Epas1^tm1Fong Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0002114	abnormal axial skeleton morphology	"abnormal development of vertebral, spinal or sternal bones resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J
MP:0002144	abnormal B lymphocyte development	"atypical production of or inability to produce mature B cells, and/or accumulation of B cell precursors" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Fasl^tm1.1Cgm/Fasl^tm1.1Cgm Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6N
MP:0002234	abnormal pharynx morphology	"structural anomaly in the passage between the mouth and the posterior nares and the larynx and esophagus" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J
MP:0002237	abnormal nasal cavity morphology	"any structural anomaly of the portion of the respiratory tract that extends from the nares to the pharynx; the nasal cavity is lined with ciliated mucosa" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J
MP:0002251	abnormal nasopharynx morphology	"structural anomaly of the section of the pharynx that lies above the soft palate" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J
MP:0002418	increased susceptibility to viral infection	"greater likelihood that an organism will develop ill effects from a viral infection or from components of or toxins produced by a virus" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Fasl^tm1.1Cgm/Fasl^tm1.1Cgm Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6N
MP:0002543	brachyphalangia	"abnormally short phalanges" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J
MP:0002656	abnormal keratinocyte differentiation	"developmental anomaly of the cells of the epidermis that produce keratin in the process of differentiating into the dead and fully keratinized cells of the stratum corneum " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Sfn^Er/Sfn^Er Genetic Background: B6CBACa A^w-J/A-Sfn^Er/J
MP:0002796	impaired skin barrier function	"impaired ability of the skin to regulate water loss; frequently leads to dehydration" [J:56641]	Show Allelic Composition: Kdf1^shd/Kdf1^{tm1a(EUCOMM)Wtsi} Genetic Background: involves: C3HeB/FeJ * C57BL/6J * C57BL/6N Allelic Composition: Kdf1^shd/Kdf1⁺,Sfn^Er/Sfn⁺ Genetic Background: involves: C3HeB/FeJ * C57BL/6J
MP:0003130	anal atresia	"absence of a connection between the anal pit and the rectum" [smb:Susan M. Bello, Mouse Genome Informatics Curator, J:91491]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J
MP:0003160	abnormal esophageal development	"aberrant formation of the part of the digestive canal through which food passes from the pharynx to the stomach" [smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Irf6^tm1Mjd/Irf6⁺,Sfn^Er/Sfn⁺ Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
MP:0003315	abnormal perineum morphology	"malformation in the area between the genital organs and the anus that lies beneath the pelvic diaphragm" [ncbi:Matthew Mailman, NCBI request, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J
MP:0003385	abnormal body wall	"malformation in the external portion of an animal body comprised of ectoderm and mesoderm layers that encloses the body cavity " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Irf6^tm1Mjd/Irf6⁺,Sfn^Er/Sfn⁺ Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
MP:0003566	abnormal cell adhesion	"altered ability of a cell to adhere to another cell or to a non-cellular component of the environment" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]	Show Allelic Composition: Galc^twi/Galc^twi,Il6^tm1Kopf/Il6^tm1Kopf Genetic Background: involves: 129S2/SvPas * C57BL/6J * CE/J
MP:0003671	abnormal eyelid opening		Show Allelic Composition: Sfn^Er/Sfn^Er Genetic Background: involves: C57BL/6By
MP:0003775	thin lip	"lips having a reduced amount of soft tissue" [ncbi:Matthew Mailman, NCBI request]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J
MP:0003935	abnormal craniofacial development	"anomaly in the process of forming the face and/or cranium" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Sfn^Er/Sfn^Er Genetic Background: involves: C57BL/6By
MP:0004174	abnormal spine curvature	"deviation from the typical S-shape of the spine" [smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J
MP:0004207	squamous cell carcinoma	"a carcinoma that arises from stratified squamous epithelium that occurs in sites where glandular or columnar epithelium is normally present, such as the skin, esophagus, lungs and cervix" [MGI:rbabiuk "Randall Babiuk, Mouse Genome Informatics Curator"]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J
MP:0004575	small limb buds	"reduced size of the mesenchymal outgrowth on the lateral trunk of the embryo that develops into the limbs" [MESH:National Library of Medicine_Medical Subject Headings]	Show Allelic Composition: Sfn^Er/Sfn^Er Genetic Background: involves: C57BL/6By
MP:0004576	abnormal foot plate morphology	"any structural anomaly of the distal elements of the developing limb of vertebrates that will give rise to the pedal appendages (e.g. hand, foot, paw)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Sfn^Er/Sfn^Er Genetic Background: involves: C57BL/6By
MP:0005017	decreased B cell number	"fewer than normal B cell numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Fasl^tm1.1Cgm/Fasl^tm1.1Cgm Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6N
MP:0005114	premature hair loss	"release of fur at an earlier than expected time" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J Allelic Composition: Sfn^Er/Sfn⁺ Genetic Background: B6CBACa A^w-J/A-Sfn^Er/J
MP:0005154	increased B cell proliferation	"greater than the normal response by B cells to grow and divide in response to stimuli " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Fasl^tm1.1Cgm/Fasl^tm1.1Cgm Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6N
MP:0005155	herniated intestine	"protrusion of any portion of the intestine from its normal anatomical position" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J
MP:0005306	abnormal phalanx morphology	"aberrant structure of any of the long bones of the digits" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J
MP:0005650	abnormal limb bud morphology	"aberrant structure or development of any of the swellings on the trunk of the embryo that become limbs" [hdene:Howard Dene , Mouse Genome Informatics Curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003, J:61460]	Show Allelic Composition: Sfn^Er/Sfn^Er Genetic Background: involves: C57BL/6By
MP:0006033	abnormal external auditory canal	"malformation of the canal that connects the outer and middle ear" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:57313]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J
MP:0006279	abnormal limb development	"anomaly in the formation of the limbs" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Sfn^Er/Sfn^Er Genetic Background: involves: C57BL/6By
MP:0008168	decreased B-1a cell number	"reduced number of the B-1 B cell subset bearing the CD5 surface marker" [CL:0000820, PMID:11861604]	Show Allelic Composition: Fasl^tm1.1Cgm/Fasl^tm1.1Cgm Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6N
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: Fasl^tm1.1Cgm/Fasl^tm1.1Cgm Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6N
MP:0008182	decreased marginal zone B cell number	"reduced number of CD23-negative, CD21-positive B cells of the marginal zone of the spleen expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL" [CL:0000845, ISBN:0781735149]	Show Allelic Composition: Fasl^tm1.1Cgm/Fasl^tm1.1Cgm Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6N
MP:0008234	absent spleen marginal zone	"absence of the zone between the red and white pulp of the spleen containing numerous macrophages and lymphocytes, and a rich plexus of sinusoids supplied by white pulp arterioles carrying blood-borne antigens" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Fasl^tm1.1Cgm/Fasl^tm1.1Cgm Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6N
MP:0008470	abnormal spleen B cell follicle morphology	"any structural anomaly of the area of the white pulp where the affinity maturation of B cells and the generation of memory B cells and plasma cells occur" [PMID:17495967]	Show Allelic Composition: Fasl^tm1.1Cgm/Fasl^tm1.1Cgm Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6N
MP:0008782	increased B cell apoptosis	"increase in the timing or the number of B cells undergoing programmed cell death" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fasl^tm1.1Cgm/Fasl^tm1.1Cgm Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6N
MP:0009263	abnormal eyelid fusion	"anomaly in the process by which the upper and lower eyelids are joined during development" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Sfn^Er/Sfn^Er Genetic Background: involves: C57BL/6By
MP:0009474	thick epidermal spinous layer	"increased thickness of the stratum spinosum; the polyhedral cell layer" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]	Show Allelic Composition: Irf6^tm1Mjd/Irf6⁺,Sfn^Er/Sfn⁺ Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
MP:0009503	abnormal mammary gland duct morphology	"any structural anomaly of the canals that lead from the lobes of the mammary gland to the tip of the nipple and are responsible for carrying milk toward the nipple in a lactating female" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Galc^twi/Galc^twi,Il6^tm1Kopf/Il6^tm1Kopf Genetic Background: involves: 129S2/SvPas * C57BL/6J * CE/J
MP:0009504	abnormal mammary gland epithelium morphology	"any structural anomaly of the epithelial layer of the luminal surfaces of the mammary gland" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Galc^twi/Galc^twi,Il6^tm1Kopf/Il6^tm1Kopf Genetic Background: involves: 129S2/SvPas * C57BL/6J * CE/J Allelic Composition: Sfn^tm1Mul/Sfn^tm1Mul,Tg(MMTV-cre)7Mul/0 Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB/N
MP:0009553	fused lips	"an anomaly of the fleshy margins of the mouth resulting in the lips being joined together into one structure" [MGI:mberry "Melissa Berry, Genetics Resources Curator"]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J Allelic Composition: Sfn^Er/Sfn^Er Genetic Background: involves: C57BL/6By
MP:0009560	absent epidermis stratum granulosum	"absence of the layer of flattened cells containing basophilic granules of keratohyalin and lying just above the stratum spinosum (spiny layer) of the epidermis" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Irf6^tm1Mjd/Irf6⁺,Sfn^Er/Sfn⁺ Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 Allelic Composition: Sfn^Er/Sfn^Er Genetic Background: B6CBACa A^w-J/A-Sfn^Er/J
MP:0009576	oral atresia	"congenital blockage, fusion, or absence of the normal opening of the oral cavity" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J Allelic Composition: Kdf1^shd/Kdf1⁺,Sfn^Er/Sfn⁺ Genetic Background: involves: C3HeB/FeJ * C57BL/6J
MP:0009791	increased susceptibility to viral infection induced morbidity/mortality	"increased likelihood that an organism will display the expected moribund state caused by a viral invasion or from components of or toxins produced by a virus" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fasl^tm1.1Cgm/Fasl^tm1.1Cgm Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6N
MP:0009884	palatal shelf fusion with tongue or mandible	"palatal shelves do not elevate during development and instead fuse with tongue tissues or with the mandible tissues" [PMID:16680722]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J
MP:0009890	cleft secondary palate	"congenital fissure of the tissues normally uniting to form the secondary palate" [PMID:16680722]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J
MP:0011084	partial lethality at weaning	"the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms at weaning age" [MGI:csmith]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J
MP:0011087	complete neonatal lethality	"death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J
MP:0011089	complete perinatal lethality	"death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]	Show Allelic Composition: Sfn^Er/Sfn^Er Genetic Background: B6CBACa A^w-J/A-Sfn^Er/J
MP:0011110	partial preweaning 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 between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]	Show Allelic Composition: Kdf1^shd/Kdf1⁺,Sfn^Er/Sfn⁺ Genetic Background: involves: C3HeB/FeJ * C57BL/6J
MP:0012175	flat face	"the appearance of a flattened surface outline or contour of a normally rounded face of an organism" [MGI:anna]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J
MP:0013789	small external nares	"decreased size of the anterior openings to the nasal cavity" [MGI:Anna]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J
MP:0013818	abnormal oral cavity morphology	"any structural anomaly of the anatomical cavity at the start of the digestive tract that is enclosed by the mouth" [UBERON:0000167]	Show Allelic Composition: Tecta^tm2Gpr/Tecta⁺ Genetic Background: involves: 129S/SvEv * C57BL/6J
MP:0030179	abnormal oral epithelium morphology	"any structural anomaly of the stratified squamous epithelium that forms part of the oral mucosa and lines the inner aspect of the oral cavity; depending on the mouth region, the epithelium may be non-keratinized or keratinized; non-keratinized squamous epithelium covers the soft palate, inner lips, inner cheeks, and the floor of the mouth, and ventral surface of the tongue; keratinized squamous epithelium is present in the attached gingiva and hard palate as well as areas of the dorsal surface of the tongue" [https://en.wikipedia.org/wiki/Oral_mucosa]	Show Allelic Composition: Sfn^Er/Sfn^Er Genetic Background: B6CBACa A^w-J/A-Sfn^Er/J

Interacting proteins (from Reactome)

Interactor ID	Name	Interaction type
ENSMUSG00000003873	Bax / Q07813 / Apoptosis regulator BAX / Q07812* / BCL2 associated X, apoptosis regulator*	/ complex / reaction
ENSMUSG00000047281	Sfn / O70456 / stratifin / P31947*	/ reaction / complex
ENSMUSG00000041431	Ccnb1 / P24860 / G2/mitotic-specific cyclin-B1 / P14635* / cyclin B1*	/ complex / reaction
ENSMUSG00000019942	Cdk1 / P11440 / Cyclin-dependent kinase 1 / P06493*	/ reaction / complex

1 s.

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