Manteia - Molecule gene

ENSMUSG00000025854

Mus musculus

Features

Gene ID:	ENSMUSG00000025854

Biological name :	Fam20c

Synonyms :	Extracellular serine/threonine protein kinase FAM20C / Fam20c / Q5MJS3

Possible biological names infered from orthology :	FAM20C, golgi associated secretory pathway kinase / Q8IXL6

Species:	Mus musculus

Chr. number:	5
Strand:	1
Band:	G2
Gene start:	138754514
Gene end:	138810077

Corresponding Affymetrix probe sets:	10526853 (MoGene1.0st) 1417688_at (Mouse Genome 430 2.0 Array) 1443827_x_at (Mouse Genome 430 2.0 Array) 1457648_x_at (Mouse Genome 430 2.0 Array)

Cross references:	Ensembl peptide - ENSMUSP00000124584 Ensembl peptide - ENSMUSP00000026972 NCBI entrez gene - 80752 See in Manteia. MGI - MGI:2136853 RefSeq - NM_030565 RefSeq - XM_006504775 RefSeq Peptide - NP_085042 swissprot - E0CY01 swissprot - Q5MJS3 Ensembl - ENSMUSG00000025854

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

Ortholog prediction (from Ensembl)

Ortholog name	ID	Species
fam20ca	ENSDARG00000074317	Danio rerio
fam20cb	ENSDARG00000090338	Danio rerio
FAM20C	ENSGALG00000038768	Gallus gallus
FAM20C	ENSG00000177706	Homo sapiens

Paralog prediction (from Ensembl)

Paralog name	ID	Similarity(%)
Fam20a / Q8CID3 / Pseudokinase FAM20A / Q96MK3* / FAM20A, golgi associated secretory pathway pseudokinase*	ENSMUSG00000020614	40
Fam20b / Q8VCS3 / Glycosaminoglycan xylosylkinase / O75063* / FAM20B, glycosaminoglycan xylosylkinase*	ENSMUSG00000033557	26

Protein motifs (from Interpro)

Interpro ID	Name
IPR009581	FAM20, C-terminal
IPR024869	FAM20

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
biological_process	GO:0001501	skeletal system development	IMP
biological_process	GO:0006468	protein phosphorylation	IEA
biological_process	GO:0016310	phosphorylation	IEA
biological_process	GO:0030501	positive regulation of bone mineralization	IDA
biological_process	GO:0031214	biomineral tissue development	ISO
biological_process	GO:0036179	osteoclast maturation	IMP
biological_process	GO:0040036	regulation of fibroblast growth factor receptor signaling pathway	IMP
biological_process	GO:0045669	positive regulation of osteoblast differentiation	IDA
biological_process	GO:0046034	ATP metabolic process	IEA
biological_process	GO:0051174	regulation of phosphorus metabolic process	IMP
biological_process	GO:0070166	enamel mineralization	IMP
biological_process	GO:0071895	odontoblast differentiation	IDA
biological_process	GO:0097187	dentinogenesis	IMP
cellular_component	GO:0005576	extracellular region	IEA
cellular_component	GO:0005615	extracellular space	IEA
cellular_component	GO:0005737	cytoplasm	IEA
cellular_component	GO:0005794	Golgi apparatus	ISO
molecular_function	GO:0000166	nucleotide binding	IEA
molecular_function	GO:0004674	protein serine/threonine kinase activity	ISO
molecular_function	GO:0005509	calcium ion binding	IDA
molecular_function	GO:0005524	ATP binding	IEA
molecular_function	GO:0016301	kinase activity	IEA
molecular_function	GO:0016740	transferase activity	IEA
molecular_function	GO:0030145	manganese ion binding	IEA
molecular_function	GO:0046872	metal ion binding	IEA

Pathways (from Reactome)

Pathway description

Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)

Post-translational protein phosphorylation

Phenotype (from MGI, Zfin or HPO)

ID	Phenotype	Definition	Genetic BG
MP:0000060	delayed bone ossification	"late onset of the formation of bone" [J:40203]	Show Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺ Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA
MP:0000061	fragile skeleton	"easily damaged or broken bones" [J:14208]	Show Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺ Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA Allelic Composition: Fam20c^tm1Lex/Fam20c^tm1Lex Genetic Background: involves: 129S5/SvEvBrd * C57BL/6
MP:0000063	reduced bone density	"decreased mineral content of bone; indicator of bone strength" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:57315]	Show Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺ Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA Allelic Composition: Fam20c^tm1Lex/Fam20c^tm1Lex Genetic Background: involves: 129S5/SvEvBrd * C57BL/6 Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Tg(Col1a1-cre)2Bek/0 Genetic Background: involves: 129S6/SvEvTac * CD-1
MP:0000130	abnormal cancellous bone morphology	"structural anomaly of bone that has a latticelike or spongy structure" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Vhl^tm1Jae/Vhl^tm1Jae,Tg(NPHS2-cre)295Lbh/? Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL
MP:0000135	reduced cortical bone thickness	"thinner than normal superficial layer of compact bone " [J:61509]	Show Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺ Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA Allelic Composition: Fam20c^tm1Lex/Fam20c^tm1Lex Genetic Background: involves: 129S5/SvEvBrd * C57BL/6
MP:0000137	abnormal vertebrae morphology	"malformed bony segment of the spinal column" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Fam20c^tm1Lex/Fam20c^tm1Lex Genetic Background: involves: 129S5/SvEvBrd * C57BL/6
MP:0000195	hypocalcemia	"subnormal concentrations of calcium ions in the circulating blood " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Fam20c^tm1Lex/Fam20c^tm1Lex Genetic Background: involves: 129S5/SvEvBrd * C57BL/6
MP:0000198	hypophosphatemia	"abnormally low concentrations of phosphates in the circulating blood" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺ Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA Allelic Composition: Fam20c^tm1Lex/Fam20c^tm1Lex Genetic Background: involves: 129S5/SvEvBrd * C57BL/6 Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Tg(Col1a1-cre)2Bek/0 Genetic Background: involves: 129S6/SvEvTac * CD-1
MP:0000240	extramedullary hematopoiesis	"formation and development of blood cells outside the bone marrow, e.g., in the spleen, liver, or lymph nodes" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Fam20c^tm1Lex/Fam20c^tm1Lex Genetic Background: involves: 129S5/SvEvBrd * C57BL/6
MP:0000445	short snout	"reduced length of the anterior facial part of the muzzle" [J:53370]	Show Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺ Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA
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: Vhl^tm1Jae/Vhl^tm1Jae,Tg(NPHS2-cre)295Lbh/? Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL
MP:0000455	abnormal maxilla morphology	"malformation of the upper bony framework of the mouth where the superior teeth are held" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Vhl^tm1Jae/Vhl^tm1Jae,Tg(NPHS2-cre)295Lbh/? Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL
MP:0000559	abnormal femur morphology	"structural anomaly of the long bone of the thigh" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Fam20c^tm1Lex/Fam20c^tm1Lex Genetic Background: involves: 129S5/SvEvBrd * C57BL/6
MP:0000613	abnormal salivary gland morphology	"malformed saliva-secreting glands of the oral cavity" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:63764]	Show Allelic Composition: Vhl^tm1Jae/Vhl^tm1Jae,Tg(NPHS2-cre)295Lbh/? Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL
MP:0001255	decreased body height	"decreased shoulder to floor distance compared to controls" [dlb:Donna Burkart, Mouse Genome Informatics Curator]	Show Allelic Composition: Atmin^tm1.1Jhh/Atmin^tm1.1Jhh,Cd79a^tm1(cre)Reth/Cd79a⁺,Tg(IghMyc)22Bri/0 Genetic Background: B6.Cg-Cd79a^tm1(Cre)Reth Atmin^tm1.1Jhh Tg(IghMyc)22Bri
MP:0001258	decreased body length	"decreased crown to tail distance compared to controls" [cwg:Carroll W. Goldsmith, Mouse Genome Informatics Curator]	Show Allelic Composition: Vhl^tm1Jae/Vhl^tm1Jae,Tg(NPHS2-cre)295Lbh/? Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL
MP:0001262	decreased body weight	"lower than normal average weight " [J:61295]	Show Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺ Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA Allelic Composition: Fam20c^tm1Lex/Fam20c^tm1Lex Genetic Background: involves: 129S5/SvEvBrd * C57BL/6
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: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺ Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA
MP:0001270	distended abdomen	"abdomen appears curved outward or swollen; can be due to skeletal axial defects, enlarged visceral organs or megacolon" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Vhl^tm1Jae/Vhl^tm1Jae,Tg(NPHS2-cre)295Lbh/? Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL
MP:0001348	abnormal lacrimal gland physiology		Show Allelic Composition: Fam20c^tm1Lex/Fam20c^tm1Lex Genetic Background: involves: 129S5/SvEvBrd * C57BL/6
MP:0001402	hypoactivity	"reduced movement from one place to another" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:64289]	Show Allelic Composition: Fam20c^tm1Lex/Fam20c^tm1Lex Genetic Background: involves: 129S5/SvEvBrd * C57BL/6
MP:0001454	abnormal cued conditioning behavior	"defect in the ability of an animal to learn and remember an association between an an aversive experience (the unconditioned stimulus (US), ususally a shock) and a neutral stimulus (the conditioned stimulus (CS), usually an auditory cue or light)" [CFG:Center for Functional Genomics , Northwestern University]	Show Allelic Composition: Vhl^tm1Jae/Vhl^tm1Jae,Tg(NPHS2-cre)295Lbh/? Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL
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: Fam20c^tm1Lex/Fam20c^tm1Lex Genetic Background: involves: 129S5/SvEvBrd * C57BL/6
MP:0001732	postnatal growth retardation	"slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺ Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA Allelic Composition: Fam20c^tm1Lex/Fam20c^tm1Lex Genetic Background: involves: 129S5/SvEvBrd * C57BL/6
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: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺ Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA
MP:0001926	female infertility	"inability of female to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:34193]	Show Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺ Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA
MP:0002066	abnormal motor capabilities/coordination/movement	"altered ability to coordinate voluntary movement or repetitive, compulsive movements" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Vhl^tm1Jae/Vhl^tm1Jae,Tg(NPHS2-cre)295Lbh/? Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL
MP:0002089	abnormal postnatal growth/weight/body size	"increased or decreased average body size, weight or growth characteristic abnormalities manifesting after birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Vhl^tm1Jae/Vhl^tm1Jae,Tg(NPHS2-cre)295Lbh/? Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL
MP:0002100	abnormal tooth morphology	"atypical size, shape or hard tissue structure of the teeth " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Vhl^tm1Jae/Vhl^tm1Jae,Tg(NPHS2-cre)295Lbh/? Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL
MP:0002818	abnormal dentin morphology	"defects in the hard portion of the tooth surrounding the pulp, covered by enamel on the crown and cementum on the root" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Fam20c^tm1Lex/Fam20c^tm1Lex Genetic Background: involves: 129S5/SvEvBrd * C57BL/6
MP:0002819	abnormal pulp cavity morphology	"defects in the central hollow space of a tooth" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Fam20c^tm1Lex/Fam20c^tm1Lex Genetic Background: involves: 129S5/SvEvBrd * C57BL/6
MP:0002904	increased circulating parathyroid hormone level	"greater than expected blood concentration of this regulator of calcium and phosphorous concentration" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]	Show Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺ Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA
MP:0002968	increased circulating alkaline phosphatase level	"elevated activity of this enzyme, which hydrolyzes orthophosphoric monoesters, found in the blood" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Fam20c^tm1Lex/Fam20c^tm1Lex Genetic Background: involves: 129S5/SvEvBrd * C57BL/6
MP:0003055	abnormal epiphyseal plate morphology	"malformed or absent cartilagenous center of ossification on the long bones permitting growth of the bone in both directions during development" [MeSH:National Library of Medicine - Medical Subject Headings, 2003]	Show Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺ Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA
MP:0003088	abnormal prepulse inhibition	"increase or decrease in the ability of a relatively mild stimulus to suppress the response to a strong, startle-eliciting stimulus" [smb:Susan M. Bello, Mouse Genome Informatics Curator, J:91131]	Show Allelic Composition: Fam20c^tm1Lex/Fam20c^tm1Lex Genetic Background: involves: 129S5/SvEvBrd * C57BL/6
MP:0003116	rickets	"overproduction and deficient calcification of osteoid tissue due to vitamin D deficiency; can lead to skeletal deformities, growth defects, hypocalcemia, and sometimes tetany; skeletal fractures occur frequently" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8, ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator]	Show Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺ Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA
MP:0003404	absent enamel	"absence of the hard outer coating of the exposed portion of the tooth" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:92017]	Show Allelic Composition: Fam20c^tm1Lex/Fam20c^tm1Lex Genetic Background: involves: 129S5/SvEvBrd * C57BL/6
MP:0003408	increased width of hypertrophic chondrocyte zone	"increased width of cartilage cell matrix layer " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺ Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA
MP:0003419	delayed endochondral bone ossification	"late onset of bone formation in bones that form from cartilage" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:94631]	Show Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺ Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA
MP:0003662	abnormal proliferative zone	"germinal layer of the epiphyseal plate where cells are actively dividing as well as producing extracellular matrix" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:96254]	Show Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺ Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA
MP:0003668	abnormal periodontal ligament morphology	"any structural anomaly in the fibrous connective tissue that surrounds the root of a tooth, separating it from and attaching it to the alveolar bone; normally extends from the base of the gingival mucosa to the fundus of the bony socket, and its main function is to hold the tooth in its socket" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:66512]	Show Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Tg(Col1a1-cre)2Bek/0 Genetic Background: involves: 129S6/SvEvTac * CD-1
MP:0003795	abnormal bone structure		Show Allelic Composition: Fam20c^tm1Lex/Fam20c^tm1Lex Genetic Background: involves: 129S5/SvEvBrd * C57BL/6
MP:0003930	abnormal tooth hard tissue morphology	"defects in the hard portion of the tooth surrounding the pulp, including the dentin, enamel and the cementum on the root" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Fam20c^tm1Lex/Fam20c^tm1Lex Genetic Background: involves: 129S5/SvEvBrd * C57BL/6
MP:0003933	abnormal cementum morphology	"defects in the bonelike rigid connective tissue covering the root of a tooth" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Tg(Col1a1-cre)2Bek/0 Genetic Background: involves: 129S6/SvEvTac * CD-1
MP:0004214	abnormal long bone diaphysis morphology	"any structural anomaly of the main or mid section (shaft) of a long bone" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺ Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA
MP:0004703	abnormal vertebral column	"any structural anomaly of the complete structure forming the rostral-caudal axis of the skeleton formed from the alternating segments of vertebra and intervertebral discs which support the spinal cord" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺ Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA
MP:0005352	small skull	"less than the normal size of the cranium" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺ Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA
MP:0005416	abnormal circulating protein level	"anomalous blood concentration of any of the macromolecules consisting of long chains of amino acids in peptide linkage" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺ Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA
MP:0005422	osteosclerosis	"abnormal hardening or eburnation (change in exposed subchondral bone in degenerative joint disease in which bone is converted into a dense substance with a smooth surface) of bone " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cml:Cathy M Lutz , Mouse Genome Informatics Curator]	Show Allelic Composition: Fam20c^tm1Lex/Fam20c^tm1Lex Genetic Background: involves: 129S5/SvEvBrd * C57BL/6
MP:0005508	abnormal skeleton morphology	"malformation of the bony framework of the body in vertebrates" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺ Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA Allelic Composition: Fam20c^tm1Lex/Fam20c^tm1Lex Genetic Background: involves: 129S5/SvEvBrd * C57BL/6
MP:0005536	Leydig cell hypoplasia	"reduced numbers of the interstitial cells of the seminiferous tubules that secrete testosterone" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]	Show Allelic Composition: Fam20c^tm1Lex/Fam20c^tm1Lex Genetic Background: involves: 129S5/SvEvBrd * C57BL/6
MP:0006325	impaired hearing	"reduced ability to percieve auditory stimuli" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fam20c^tm1Lex/Fam20c^tm1Lex Genetic Background: involves: 129S5/SvEvBrd * C57BL/6
MP:0006395	abnormal epiphyseal plate morphology	"any structural anomaly of the cartilaginous center of ossification on the bones permitting growth of the bone in both directions during development" [MESH:A02.835.232.251.352]	Show Allelic Composition: Fam20c^tm1Lex/Fam20c^tm1Lex Genetic Background: involves: 129S5/SvEvBrd * C57BL/6
MP:0006402	small molars	"reduced size of the most posterior teeth located on either side of the jaw, and characterized by a large crown and broad chewing surface" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fam20c^tm1Lex/Fam20c^tm1Lex Genetic Background: involves: 129S5/SvEvBrd * C57BL/6
MP:0008753	abnormal osteocyte morphology	"any structural anomaly of a mature osteoblast that has become embedded in the bone matrix (osteoid) in small cavities called lacuna and is connected to adjacent osteocytes via protoplasmic projections called canaliculi" [MESH:A.11.329.629.500]	Show Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺ Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Tg(Col1a1-cre)2Bek/0 Genetic Background: involves: 129S6/SvEvTac * CD-1
MP:0009346	decreased cancellous bone thickness	"thinner than normal bone with a lattice-like or spongy structure" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fam20c^tm1Lex/Fam20c^tm1Lex Genetic Background: involves: 129S5/SvEvBrd * C57BL/6
MP:0009445	osteomalacia	"gradual softening and bending of the bones due to failure of osteoid tissue to calcify as a result of vitamin D deficiency or renal tubular dysfunction" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺ Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA
MP:0010124	decreased bone mineral content	"reduction 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: Fam20c^tm1Lex/Fam20c^tm1Lex Genetic Background: involves: 129S5/SvEvBrd * C57BL/6
MP:0010743	delayed suture closure	"late onset of the fusion of the bones of the skull" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺ Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA
MP:0010870	absent bone trabeculae	"absence of intersecting plates and spicules in cancellous bone which form a meshwork of intercommunicating spaces filled with blood vessels and marrow; in mature bone, the trabeculae are aligned in parallel with the lines of major compressive or tensile force" [http://www.dorlands.com/ "Dorland s Illustrated Medical Dictionary, 31st edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fam20c^tm1Lex/Fam20c^tm1Lex Genetic Background: involves: 129S5/SvEvBrd * C57BL/6
MP:0010876	decreased bone volume	"reduced amount of space occupied by bone tissue in the skeleton" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Tg(Col1a1-cre)2Bek/0 Genetic Background: involves: 129S6/SvEvTac * CD-1
MP:0010879	decreased trabecular bone volume	"decrease in the amount of space occupied by trabecular bone tissue in the skeleton" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fam20c^tm1Lex/Fam20c^tm1Lex Genetic Background: involves: 129S5/SvEvBrd * C57BL/6
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: Fam20c^tm1Lex/Fam20c^tm1Lex Genetic Background: involves: 129S5/SvEvBrd * C57BL/6
MP:0011228	abnormal vitamin D level	"any anomaly in the concentration of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism; specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3)" [GO:0042368]	Show Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺ Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA
MP:0011498	abnormal glomerular capsule parietal layer morphology	"any structural anomaly of the outer layer of the glomerular capsule composed of a single layer of simple squamous epithelium" [MGI:anna]	Show Allelic Composition: Fam20c^tm1Lex/Fam20c^tm1Lex Genetic Background: involves: 129S5/SvEvBrd * C57BL/6
MP:0011504	abnormal limb long bone morphology		Show Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺ Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA
MP:0011711	decreased osteoblast differentiation		Show Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺ Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA
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: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺ Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA
MP:0013251	dental pulp necrosis	"morphological changes resulting from pathological death of dental pulp tissue; usually due to irreversible damage" [MGI:csmith]	Show Allelic Composition: Fam20c^tm1Lex/Fam20c^tm1Lex Genetic Background: involves: 129S5/SvEvBrd * C57BL/6
MP:0014101	decreased chondrocyte proliferation	"decreased amount of multiplication or reproduction of chondrocytes by cell division, resulting in the expansion of their population" [GO:0035988]	Show Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺ Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA
MP:0014104	decreased chondrocyte apoptosis	"reduced number of chondrocytes undergoing programmed cell death" [MGI:csmith]	Show Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺ Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA
MP:0014105	abnormal chondrocyte differentiation	"any anomaly in the process in which a chondroblast acquires specialized structural and/or functional features of a chondrocyte" [GO:0002062]	Show Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺ Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA
MP:0020137	decreased bone mineralization	"decrease in the rate at which minerals are deposited into bone" []	Show Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺ Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA
MP:0020254	decreased collagen level	"decreased level of the main structural protein of the various connective tissues in animals" [GOC:NV, PMID:11704682]	Show Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Tg(Col1a1-cre)2Bek/0 Genetic Background: involves: 129S6/SvEvTac * CD-1
MP:0030132	periodontium inflammation	"local accumulation of fluid, plasma proteins, and leukocytes in the periodontium (including the gums and supporting structures of the teeth)" [MGI:anna]	Show Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Tg(Col1a1-cre)2Bek/0 Genetic Background: involves: 129S6/SvEvTac * CD-1
MP:0030153	dental pulp inflammation	"local accumulation of fluid, plasma proteins, and leukocytes in dental pulp tissue; commonly associated with a bacterial infection but can also be due to other insults such as repetitive trauma or in rare cases periodontitis" [https://en.wikipedia.org/wiki/Pulpitis, MGI:anna]	Show Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Tg(Col1a1-cre)2Bek/0 Genetic Background: involves: 129S6/SvEvTac * CD-1
MP:0030223	mandibular hyperostosis	"hyperostosis (bony overgrowth) of the mandible" [HP:0004472]	Show Allelic Composition: Fam20c^tm1Lex/Fam20c^tm1Lex Genetic Background: involves: 129S5/SvEvBrd * C57BL/6
MP:0030462	tooth abscess	"a pocket of pus localized within a region of a tooth, usually caused by a bacterial infection" [HP:0030757, https://www.mayoclinic.org/diseases-conditions/tooth-abscess/symptoms-causes/syc-20350901]	Show Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Tg(Col1a1-cre)2Bek/0 Genetic Background: involves: 129S6/SvEvTac * CD-1
MP:0030463	apical tooth abscess	"a tooth abscess that occurs at or around the tip of the root (apex) of a tooth; may result from pulp infection due to carious lesion or pulp necrosis resulting from injury" [HP:0030758, https://medical-dictionary.thefreedictionary.com/periapical+abscess]	Show Allelic Composition: Fam20c^tm1Lex/Fam20c^tm1Lex Genetic Background: involves: 129S5/SvEvBrd * C57BL/6
MP:0030466	alveolar process atrophy	"acquired diminution of the size of the alveolar process associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [MGI:anna]	Show Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Tg(Col1a1-cre)2Bek/0 Genetic Background: involves: 129S6/SvEvTac * CD-1
MP:0030484	abnormal osteocyte lacuna morphology	"any structural anomaly of the small cavity within the bone matrix that is occupied by an osteocyte cell body, and from which slender canaliculi radiate and penetrate the adjacent lamellae to anastomose with the canaliculi of neighboring lacunae, thus forming a system of cavities interconnected by minute canals" [https://medical-dictionary.thefreedictionary.com/osteocyte+lacuna]	Show Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Tg(Col1a1-cre)2Bek/0 Genetic Background: involves: 129S6/SvEvTac * CD-1
MP:0030485	abnormal osteocyte lacunocanalicular system morphology	"any structural anomaly of the large network intercommunicating the lacunae and canaliculi which contain the osteocytes and their cytoplasmic processes within the mineralized bone matrix" [PMID:22928392]	Show Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Tg(Col1a1-cre)2Bek/0 Genetic Background: involves: 129S6/SvEvTac * CD-1
MP:0030486	abnormal osteocyte canaliculus morphology	"any structural anomaly of the slender canals situated between the lacunae of ossified bone where osteocyte cytoplasmic (dendritic) processes reside; osteocyte canaliculi are used for exchange of nutrients and waste products through gap junctions" [https://en.wikipedia.org/wiki/Bone_canaliculus, https://en.wikipedia.org/wiki/Osteocyte]	Show Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Tg(Col1a1-cre)2Bek/0 Genetic Background: involves: 129S6/SvEvTac * CD-1
MP:0030487	abnormal osteocyte dendritic process morphology	"any structural anomaly of the long, slender cytoplasmic processes by which mature osteocytes communicate with one another, receive mechanosensory signals and participate in the regulation of bone turnover; these processes radiate from the osteocyte cell body, run along narrow canaliculi, and are linked to other neighboring osteocytes processes by gap junctions, as well as to cytoplasmic processes of osteoblasts and bone lining cells on the bone surface" [https://www.hindawi.com/journals/bmri/2015/421746/, PMID:24419319]	Show Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Tg(Col1a1-cre)2Bek/0 Genetic Background: involves: 129S6/SvEvTac * CD-1
MP:0030490	periodontal pocket	"a pathologic deepening of the gingival sulcus as a result of apical migration of the junctional epithelium and the destruction of alveolar bone and periodontal ligament fiber bundles" [https://books.google.com/books?isbn=0781784875]	Show Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Tg(Col1a1-cre)2Bek/0 Genetic Background: involves: 129S6/SvEvTac * CD-1
MP:0030493	abnormal tooth root morphology	"any structural anomaly of the part of a tooth that is implanted in the gum; the root is located below the neck of the tooth, covered by cementum rather than enamel, and attached by the periodontal ligament to the alveolar bone" [MGI:anna]	Show Allelic Composition: Fam20c^tm1Lex/Fam20c^tm1Lex Genetic Background: involves: 129S5/SvEvBrd * C57BL/6
MP:0030500	conical molar	"a molar tooth whose sides converge or taper together incisally forming a peg-shaped (coniform) crown" [MGI:anna]	Show Allelic Composition: Fam20c^tm1Lex/Fam20c^tm1Lex Genetic Background: involves: 129S5/SvEvBrd * C57BL/6
MP:0030515	periodontal ligament necrosis	"morphological changes resulting from pathological death of periodontal ligament tissue; usually due to irreversible damage" [MGI:anna]	Show Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Tg(Col1a1-cre)2Bek/0 Genetic Background: involves: 129S6/SvEvTac * CD-1
MP:0030517	detached junctional epithelium	"partial or complete detachment of the junctional epithelium from the tooth surface, typically leading to periodontal pocket formation" [https://books.google.com/books?isbn=0123977630]	Show Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi,Tg(Col1a1-cre)2Bek/0 Genetic Background: involves: 129S6/SvEvTac * CD-1
MP:0030542	abnormal dentin development	"any anomaly in the process whose specific outcome is the formation of dentin, the hard portion of the tooth surrounding the pulp, covered by enamel on the crown and cementum on the root; dentinogenesis begins prior to enamel formation and is initiated by the odontoblasts of the dental pulp; dentin is derived from the dental papilla of the tooth germ; after apposition of predentin and maturation into dentin, the cell bodies of the odontoblasts remain in the pulp inside the tooth, along its outer wall; unlike enamel, dentin continues to form throughout life and can be initiated in response to stimuli, such as tooth decay or attrition" [GO:0097187, https://en.wikipedia.org/wiki/Dentin]	Show Allelic Composition: Fam20c^tm1Lex/Fam20c^tm1Lex Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

Interacting proteins (from Reactome)

Interactor ID	Name	Interaction type
ENSMUSG00000020614	Fam20a / Q8CID3 / Pseudokinase FAM20A / Q96MK3* / FAM20A, golgi associated secretory pathway pseudokinase*	/ complex

0 s.

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