Manteia - Molecule gene

ENSMUSG00000004383

Mus musculus

Features

Gene ID:	ENSMUSG00000004383

Biological name :	Large1

Synonyms :	Large1 / LARGE xylosyl- and glucuronyltransferase 1 Xylosyltransferase LARGE Beta-1,3-glucuronyltransferase LARGE / Q9Z1M7

Possible biological names infered from orthology :	LARGE xylosyl- and glucuronyltransferase 1 / O95461

Species:	Mus musculus

Chr. number:	8
Strand:	-1
Band:	B3.3
Gene start:	72814599
Gene end:	73353540

Corresponding Affymetrix probe sets:	10579744 (MoGene1.0st) 1417435_at (Mouse Genome 430 2.0 Array) 1417436_at (Mouse Genome 430 2.0 Array)

Cross references:	Ensembl peptide - ENSMUSP00000004497 Ensembl peptide - ENSMUSP00000112617 Ensembl peptide - ENSMUSP00000148336 NCBI entrez gene - 16795 See in Manteia. MGI - MGI:1342270 RefSeq - XM_011248318 RefSeq - NM_001317391 RefSeq - NM_010687 RefSeq Peptide - NP_034817 RefSeq Peptide - NP_001304320 swissprot - Q059X9 swissprot - Q9Z1M7 Ensembl - ENSMUSG00000004383

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

Ortholog prediction (from Ensembl)

Ortholog name	ID	Species
large1	ENSDARG00000005126	Danio rerio
LARGE1	ENSGALG00000012559	Gallus gallus
LARGE1	ENSG00000133424	Homo sapiens

Paralog prediction (from Ensembl)

Paralog name	ID	Similarity(%)
Large2 / Q5XPT3 / LARGE xylosyl- and glucuronyltransferase 2 Xylosyltransferase LARGE2 Beta-1,3-glucuronyltransferase LARGE2 / Q8N3Y3* / LARGE xylosyl- and glucuronyltransferase 2*	ENSMUSG00000040434	57
B4gat1 / Q8BWP8 / Beta-1,4-glucuronyltransferase 1 / O43505*	ENSMUSG00000047379	13
Q3U4G3 / Xxylt1 / xyloside xylosyltransferase 1 / Q8NBI6*	ENSMUSG00000047434	10

Protein motifs (from Interpro)

Interpro ID	Name
IPR002495	Glycosyl transferase, family 8
IPR029044	Nucleotide-diphospho-sugar transferases

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
biological_process	GO:0006486	protein glycosylation	IEA
biological_process	GO:0008152	metabolic process	IEA
biological_process	GO:0009101	glycoprotein biosynthetic process	NAS
biological_process	GO:0035269	protein O-linked mannosylation	IDA
biological_process	GO:0043403	skeletal muscle tissue regeneration	IDA
biological_process	GO:0046716	muscle cell cellular homeostasis	IMP
biological_process	GO:0060538	skeletal muscle organ development	IDA
cellular_component	GO:0000139	Golgi membrane	IEA
cellular_component	GO:0005794	Golgi apparatus	ISO
cellular_component	GO:0016020	membrane	IEA
cellular_component	GO:0016021	integral component of membrane	IEA
cellular_component	GO:0043231	intracellular membrane-bounded organelle	IDA
molecular_function	GO:0003824	catalytic activity	IEA
molecular_function	GO:0005515	protein binding	IPI
molecular_function	GO:0015020	glucuronosyltransferase activity	ISO
molecular_function	GO:0016740	transferase activity	IEA
molecular_function	GO:0016757	transferase activity, transferring glycosyl groups	IMP
molecular_function	GO:0030145	manganese ion binding	ISO
molecular_function	GO:0042285	xylosyltransferase activity	ISO
molecular_function	GO:0046872	metal ion binding	IEA

Pathways (from Reactome)

Pathway description

O-linked glycosylation

Phenotype (from MGI, Zfin or HPO)

ID	Phenotype	Definition	Genetic BG
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: Kitl^Sl-38H/Kitl^Sl-38H Genetic Background: involves: BALB/c * C3H/HeN Allelic Composition: Large1^{enr-Tg(MbpReg)36Pop}/Large1^{enr-Tg(MbpReg)36Pop} Genetic Background: involves: C57BL/6J * DBA/2J
MP:0000278	abnormal myocardial fiber morphology	"malformed or poorly developed cardiac muscle fibers, the multinucleated muscle cells of the heart" [J:18048]	Show Allelic Composition: Large1^myd/Large1^myd Genetic Background: B6C3Fe a/a-Large1^myd/J
MP:0000749	muscle degeneration	"pathological deterioration of muscle tissue, often accompanied by loss of function" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]	Show Allelic Composition: Kitl^Sl-38H/Kitl^Sl-38H Genetic Background: involves: BALB/c * C3H/HeN
MP:0000751	myopathy	"any abnormal condition or disease of the skeletal muscle" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:42574]	Show Allelic Composition: Kitl^Sl-38H/Kitl^Sl-38H Genetic Background: involves: BALB/c * C3H/HeN Allelic Composition: Large1^myd-3J/Large1^myd-3J Genetic Background: STOCK Large1^myd-3J/GrsrJ
MP:0000752	dystrophic muscle	"progressive weakness and wasting of muscle" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67994]	Show Allelic Composition: Kitl^Sl-38H/Kitl^Sl-38H Genetic Background: involves: BALB/c * C3H/HeN Allelic Composition: Large1^myd/Large1^myd Genetic Background: B6C3Fe a/a-Large1^myd/J Allelic Composition: Dysf^im/Dysf⁺,Large1^myd/Large1^myd Genetic Background: involves: C57BL/6 * SJL/J Allelic Composition: Dysf^im/Dysf^im,Large1^myd/Large1^myd Genetic Background: involves: C57BL/6 * SJL/J
MP:0000759	abnormal skeletal muscle morphology	"anomalous structure of any of the striated muscle fibers connected at either or both extremeties with the bony framework of the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Large1^{enr-Tg(MbpReg)36Pop}/Large1^{enr-Tg(MbpReg)36Pop} Genetic Background: involves: C57BL/6J * DBA/2J
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: Kitl^Sl-38H/Kitl^Sl-38H Genetic Background: involves: BALB/c * C3H/HeN
MP:0000920	abnormal myelination	"atypical or altered myelination in axon sheaths" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Kitl^Sl-38H/Kitl^Sl-38H Genetic Background: involves: BALB/c * C3H/HeN Allelic Composition: Large1^{enr-Tg(MbpReg)36Pop}/Large1^{enr-Tg(MbpReg)36Pop} Genetic Background: involves: C57BL/6J * DBA/2J Allelic Composition: Large1^{enr-Tg(MbpReg)36Pop}/Large1^{enr-Tg(MbpReg)36Pop} Genetic Background: involves: C57BL/6J * DBA/2J * SJL/J
MP:0001077	abnormal spinal nerve morphology	"any anomaly, deformity, or malformation of the any of the 31 paired peripheral nerves formed by the union of the dorsal and ventral spinal roots from each spinal cord segment" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Kitl^Sl-38H/Kitl^Sl-38H Genetic Background: involves: BALB/c * C3H/HeN
MP:0001106	abnormal Schwann cell	"malformed or absent cells which form the insulating myelin sheaths of peripheral axons" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Large1^{enr-Tg(MbpReg)36Pop}/Large1^{enr-Tg(MbpReg)36Pop} Genetic Background: involves: C57BL/6J * DBA/2J * SJL/J Allelic Composition: Large1^{enr-Tg(MbpReg)36Pop}/Large1⁺ Genetic Background: involves: C57BL/6J * DBA/2J * SJL/J
MP:0001108	absent Schwann cells	"missing cells that sheath the axons of the peripheral nervous system" [J:43515]	Show Allelic Composition: Kitl^Sl-38H/Kitl^Sl-38H Genetic Background: involves: BALB/c * C3H/HeN
MP:0001262	decreased body weight	"lower than normal average weight " [J:61295]	Show Allelic Composition: Kitl^Sl-38H/Kitl^Sl-38H Genetic Background: involves: BALB/c * C3H/HeN
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: Il6^tm1Poli/Il6^tm1Poli Genetic Background: CAnNCrl.129S(Cg)-Il6^tm1Poli Allelic Composition: Large1^myd/Large1^myd Genetic Background: B6C3Fe a/a-Large1^myd/J Allelic Composition: Large1^{enr-Tg(MbpReg)36Pop}/Large1^{enr-Tg(MbpReg)36Pop} Genetic Background: involves: C57BL/6J * DBA/2J
MP:0001406	abnormal gait	"unusual or distinctive way of walking" [J:65038]	Show Allelic Composition: Kitl^Sl-38H/Kitl^Sl-38H Genetic Background: involves: BALB/c * C3H/HeN Allelic Composition: Large1^myd/Large1^myd Genetic Background: B6C3Fe a/a-Large1^myd/J Allelic Composition: Large1^myd-3J/Large1^myd-3J Genetic Background: STOCK Large1^myd-3J/GrsrJ
MP:0001504	abnormal posture	"atypical position of the limbs or carriage of the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:18984]	Show Allelic Composition: Large1^{enr-Tg(MbpReg)36Pop}/Large1^{enr-Tg(MbpReg)36Pop} Genetic Background: involves: C57BL/6J * DBA/2J
MP:0001513	limb grasping	"mice clasp front and/or hind feet almost immediately upon being lifted by tail" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]	Show Allelic Composition: Kitl^Sl-38H/Kitl^Sl-38H Genetic Background: involves: BALB/c * C3H/HeN Allelic Composition: Large1^myd/Large1^myd Genetic Background: B6C3Fe a/a-Large1^myd/J Allelic Composition: Large1^myd/Large1⁺ Genetic Background: B6C3Fe a/a-Large1^myd/J
MP:0001732	postnatal growth retardation	"slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Kitl^Sl-38H/Kitl^Sl-38H Genetic Background: involves: BALB/c * C3H/HeN
MP:0001921	reduced fertility	"diminished ability to produce live offspring" [J:65030]	Show Allelic Composition: Kitl^Sl-38H/Kitl^Sl-38H Genetic Background: involves: BALB/c * C3H/HeN
MP:0001923	reduced female fertility	"reduced ability of female to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]	Show Allelic Composition: Large1^{enr-Tg(MbpReg)36Pop}/Large1^{enr-Tg(MbpReg)36Pop} Genetic Background: involves: C57BL/6J * DBA/2J
MP:0001925	male infertility	"inability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]	Show Allelic Composition: Large1^{enr-Tg(MbpReg)36Pop}/Large1^{enr-Tg(MbpReg)36Pop} Genetic Background: involves: C57BL/6J * DBA/2J Allelic Composition: Large1^myd-3J/Large1^myd-3J Genetic Background: STOCK Large1^myd-3J/GrsrJ
MP:0002082	postnatal lethality	"premature death anytime after postnatal day 1 to weaning age (3 weeks)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Large1^{enr-Tg(MbpReg)36Pop}/Large1^{enr-Tg(MbpReg)36Pop} Genetic Background: involves: C57BL/6J * DBA/2J
MP:0002083	premature death	"death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Kitl^Sl-38H/Kitl^Sl-38H Genetic Background: involves: BALB/c * C3H/HeN Allelic Composition: Large1^{enr-Tg(MbpReg)36Pop}/Large1^{enr-Tg(MbpReg)36Pop} Genetic Background: involves: C57BL/6J * DBA/2J
MP:0002106	abnormal muscle physiology	"anomolous function of the muscle, not due to an anatomical defect" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Kitl^Sl-38H/Kitl^Sl-38H Genetic Background: involves: BALB/c * C3H/HeN
MP:0002108	abnormal muscle morphology	"abnormal development of muscle tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Kitl^Sl-38H/Kitl^Sl-38H Genetic Background: involves: BALB/c * C3H/HeN
MP:0002279	abnormal diaphragm morphology	"structural defect in the thin musculomebraneous barrier that separates the abdominal and thoracic cavities; these muscles often used for breathing control" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Il6^tm1Poli/Il6^tm1Poli Genetic Background: CAnNCrl.129S(Cg)-Il6^tm1Poli Allelic Composition: Large1^myd/Large1^myd Genetic Background: B6.Cg-Large1^myd/Pjn
MP:0002651	abnormal sciatic nerve	"malformation, absence or misprojection of the nerve which originates in the lumbar and sacral spinal cord (L4 to S3) and supplies motor and sensory innervation to the lower extremity" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Large1^{enr-Tg(MbpReg)36Pop}/Large1^{enr-Tg(MbpReg)36Pop} Genetic Background: involves: C57BL/6J * DBA/2J * SJL/J
MP:0002699	abnormal vitreous body	"anomalies of the transparent, semigelatinous substance that fills the cavity behind the crystalline lens of the eye and in front of the retina" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Il6^tm1Poli/Il6^tm1Poli Genetic Background: CAnNCrl.129S(Cg)-Il6^tm1Poli
MP:0002792	abnormal retinal vascularization	"malformation or disorganization of the blood vessels supplying the retina" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]	Show Allelic Composition: Il6^tm1Poli/Il6^tm1Poli Genetic Background: CAnNCrl.129S(Cg)-Il6^tm1Poli
MP:0002795	dilated cardiomyopathy	"decreased function of the heart associated with cardiac enlargement and congestive heart failure" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Il6^tm1Poli/Il6^tm1Poli Genetic Background: CAnNCrl.129S(Cg)-Il6^tm1Poli Allelic Composition: Large1^myd/Large1^myd Genetic Background: B6.Cg-Large1^myd/Pjn
MP:0003081	abnormal soleus morphology	"anomaly in the the superficial flat broad muscle of the calf that is responsible for plantar flexion of the foot" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8, smb:Susan M. Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Il6^tm1Poli/Il6^tm1Poli Genetic Background: CAnNCrl.129S(Cg)-Il6^tm1Poli Allelic Composition: Large1^myd/Large1^myd Genetic Background: B6.Cg-Large1^myd/Pjn
MP:0003084	abnormal skeletal muscle fiber morphology	"anomalous structure of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles" [smb:Susan M. Bello, Mouse Genome Informatics Curator, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Kitl^Sl-38H/Kitl^Sl-38H Genetic Background: involves: BALB/c * C3H/HeN Allelic Composition: Large1^myd/Large1^myd Genetic Background: B6C3Fe a/a-Large1^myd/J Allelic Composition: Large1^{enr-Tg(MbpReg)36Pop}/Large1^{enr-Tg(MbpReg)36Pop} Genetic Background: involves: C57BL/6J * DBA/2J Allelic Composition: Dysf^im/Dysf⁺,Large1^myd/Large1^myd Genetic Background: involves: C57BL/6 * SJL/J Allelic Composition: Dysf^im/Dysf^im,Large1^myd/Large1^myd Genetic Background: involves: C57BL/6 * SJL/J
MP:0003199	muscle calcification	"pathologic deposition of calcium salts in muscle" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, RGD:Rat Genome Database submission]	Show Allelic Composition: Kitl^Sl-38H/Kitl^Sl-38H Genetic Background: involves: BALB/c * C3H/HeN Allelic Composition: Large1^myd/Large1^myd Genetic Background: B6C3Fe a/a-Large1^myd/J
MP:0003381	vitreal fibroplasia	"production of excess fibrous tissue in the vitreous body of the eye" [brs:Beverly Richards-Smith, Mouse Genome Informatics Curator]	Show Allelic Composition: Il6^tm1Poli/Il6^tm1Poli Genetic Background: CAnNCrl.129S(Cg)-Il6^tm1Poli
MP:0003727	abnormal retinal layer morphology	"malformation in any of the layers that make up the retina" [smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Il6^tm1Poli/Il6^tm1Poli Genetic Background: CAnNCrl.129S(Cg)-Il6^tm1Poli Allelic Composition: Large1^myd/Large1^myd Genetic Background: B6.Cg-Large1^myd/Pjn
MP:0003732	abnormal outer plexiform layer morphology	"malformation/anomalous structure of the retinal layer that is the site of synapses between the rods and cones (axons) and the horizontal and bipolar cells (dendrites)" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]	Show Allelic Composition: Il6^tm1Poli/Il6^tm1Poli Genetic Background: CAnNCrl.129S(Cg)-Il6^tm1Poli
MP:0003733	abnormal inner nuclear layer morphology	"malformation/anomalous structure of the retinal layer which contains the cell bodies of bipolar, horizontal, and amacrine cells" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]	Show Allelic Composition: Il6^tm1Poli/Il6^tm1Poli Genetic Background: CAnNCrl.129S(Cg)-Il6^tm1Poli
MP:0003795	abnormal bone structure		Show Allelic Composition: Kitl^Sl-38H/Kitl^Sl-38H Genetic Background: involves: BALB/c * C3H/HeN
MP:0004220	abnormal peripheral nervous system regeneration	"changes in the ability or inability of healthy peripheral nervous system tissue to regenerate following injury or disease" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Large1^{enr-Tg(MbpReg)36Pop}/Large1^{enr-Tg(MbpReg)36Pop} Genetic Background: involves: C57BL/6J * DBA/2J * SJL/J Allelic Composition: Large1^{enr-Tg(MbpReg)36Pop}/Large1⁺ Genetic Background: involves: C57BL/6J * DBA/2J * SJL/J
MP:0004263	abnormal limb posture	"atypical position of the limbs compared to the normal carriage of the body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Large1^{enr-Tg(MbpReg)36Pop}/Large1^{enr-Tg(MbpReg)36Pop} Genetic Background: involves: C57BL/6J * DBA/2J
MP:0004510	myositis	"inflammation of skeletal muscle; local accumulation of fluid, plasma proteins, and leukocytes in the striated muscle" [MESH:C05.651.594]	Show Allelic Composition: Kitl^Sl-38H/Kitl^Sl-38H Genetic Background: involves: BALB/c * C3H/HeN Allelic Composition: Large1^myd/Large1^myd Genetic Background: B6C3Fe a/a-Large1^myd/J Allelic Composition: Dysf^im/Dysf⁺,Large1^myd/Large1^myd Genetic Background: involves: C57BL/6 * SJL/J Allelic Composition: Dysf^im/Dysf^im,Large1^myd/Large1^myd Genetic Background: involves: C57BL/6 * SJL/J
MP:0004740	sensorineural hearing loss	"a form of progressive hearing loss due to a lesion of the auditory division of cranial nerve VIII or the inner ear" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Large1^myd/Large1^myd Genetic Background: B6C3Fe a/a-Large1^myd/J
MP:0005241	abnormal retinal ganglion layer morphology	"anomalous structure of the innermost nuclear layer of the retina, which projects axons through the optic nerve to the brain " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Il6^tm1Poli/Il6^tm1Poli Genetic Background: CAnNCrl.129S(Cg)-Il6^tm1Poli
MP:0005329	abnormal cardiac muscle morphology	"anomalous structure of the involuntary muscle comprising the myocardium " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]	Show Allelic Composition: Il6^tm1Poli/Il6^tm1Poli Genetic Background: CAnNCrl.129S(Cg)-Il6^tm1Poli Allelic Composition: Large1^myd/Large1^myd Genetic Background: B6.Cg-Large1^myd/Pjn Allelic Composition: Large1^myd/Large1^myd Genetic Background: B6C3Fe a/a-Large1^myd/J
MP:0005551	abnormal eye electrophysiology	"abnormal function of the eye as determined through electrophysiological recordings from single cells or summary recordings from multiple cells (e.g. electroretinogram)" [NMF:Stephanie Pretel, Neuroscience Mutagenesis Facility Curator]	Show Allelic Composition: Il6^tm1Poli/Il6^tm1Poli Genetic Background: CAnNCrl.129S(Cg)-Il6^tm1Poli Allelic Composition: Large1^myd/Large1^myd Genetic Background: B6.Cg-Large1^myd/Pjn
MP:0005553	increased circulating creatinine level	"greater than the normal blood concentration of this product of creatine catabolism; abnormal levels indicative of renal dysfunction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]	Show Allelic Composition: Il6^tm1Poli/Il6^tm1Poli Genetic Background: CAnNCrl.129S(Cg)-Il6^tm1Poli
MP:0005584	abnormal enzyme/coenzyme activity	"altered ability of any of these proteins, or their cofactors, to act as catalysts to induce chemical changes in other substances" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Large1^myd/Large1^myd Genetic Background: B6C3Fe a/a-Large1^myd/J
MP:0006069	abnormal retinal neuronal layer morphology	"malformation in any of the neuronal layers that make up the retina, including the ganglion cell, inner plexiform, inner nuclear, outer plexiform, outer nuclear layers, the inner and outer segments" [smb:Susan M Bello, Mouse Genome Informatics Curator, Gray s Anatomy:ISBN 0-914294-08-3]	Show Allelic Composition: Il6^tm1Poli/Il6^tm1Poli Genetic Background: CAnNCrl.129S(Cg)-Il6^tm1Poli Allelic Composition: Large1^myd-3J/Large1^myd-3J Genetic Background: STOCK Large1^myd-3J/GrsrJ
MP:0006200	vitreous body deposition	"abnormal accumulation of material in the vitreous body" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Il6^tm1Poli/Il6^tm1Poli Genetic Background: CAnNCrl.129S(Cg)-Il6^tm1Poli
MP:0008509	disorganized retinal ganglion layer	"derangement of the pattern of the innermost nuclear layer of the retina, which contains neurons that project axons through the optic nerve to the brain" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Il6^tm1Poli/Il6^tm1Poli Genetic Background: CAnNCrl.129S(Cg)-Il6^tm1Poli
MP:0008511	thin retinal inner nuclear layer	"reduced thickness of the retinal layer which contains the cell bodies of bipolar, horizontal, and amacrine cells" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]	Show Allelic Composition: Il6^tm1Poli/Il6^tm1Poli Genetic Background: CAnNCrl.129S(Cg)-Il6^tm1Poli
MP:0008515	thin retinal outer nuclear layer	"reduced thickness of the retinal layer that contains the nuclei and cell bodies of rods and cones" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]	Show Allelic Composition: Large1^myd/Large1^myd Genetic Background: B6.Cg-Large1^myd/Pjn
MP:0008519	thin retinal outer plexiform layer	"reduced thickness of the retinal layer that is the site of synapses between the rods and cones (axons) and the horizontal and bipolar cells (dendrites)" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]	Show Allelic Composition: Il6^tm1Poli/Il6^tm1Poli Genetic Background: CAnNCrl.129S(Cg)-Il6^tm1Poli
MP:0008520	disorganized retinal outer plexiform layer	"a derangement of the normal pattern of the retinal layer that is the site of synapses between the rods and cones (axons) and the horizontal and bipolar cells (dendrites)" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]	Show Allelic Composition: Il6^tm1Poli/Il6^tm1Poli Genetic Background: CAnNCrl.129S(Cg)-Il6^tm1Poli Allelic Composition: Large1^myd/Large1^myd Genetic Background: B6.Cg-Large1^myd/Pjn
MP:0009403	increased variability of skeletal muscle fiber size	"greater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Large1^myd/Large1^myd Genetic Background: B6C3Fe a/a-Large1^myd/J Allelic Composition: Dysf^im/Dysf⁺,Large1^myd/Large1^myd Genetic Background: involves: C57BL/6 * SJL/J Allelic Composition: Dysf^im/Dysf^im,Large1^myd/Large1^myd Genetic Background: involves: C57BL/6 * SJL/J
MP:0009404	centrally nucleated skeletal muscle fibers	"cell nuclei are located at a position in the center of the skeletal myofiber, instead of their normal location at the periphery of the fiber; may be indicative of centronuclear myopathy" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Large1^myd/Large1^myd Genetic Background: B6C3Fe a/a-Large1^myd/J Allelic Composition: Dysf^im/Dysf⁺,Large1^myd/Large1^myd Genetic Background: involves: C57BL/6 * SJL/J
MP:0009412	skeletal muscle fiber degeneration	"pathological deterioration of skeletal muscle fiber tissue, often accompanied by loss of function" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Large1^myd/Large1^myd Genetic Background: B6C3Fe a/a-Large1^myd/J Allelic Composition: Dysf^im/Dysf⁺,Large1^myd/Large1^myd Genetic Background: involves: C57BL/6 * SJL/J
MP:0009414	skeletal muscle fiber necrosis	"pathological cell death in the skeletal muscle fibers, usually due to irreversible damage" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Large1^myd/Large1^myd Genetic Background: B6C3Fe a/a-Large1^myd/J Allelic Composition: Large1^{enr-Tg(MbpReg)36Pop}/Large1^{enr-Tg(MbpReg)36Pop} Genetic Background: involves: C57BL/6J * DBA/2J Allelic Composition: Dysf^im/Dysf⁺,Large1^myd/Large1^myd Genetic Background: involves: C57BL/6 * SJL/J
MP:0009415	skeletal muscle degeneration	"pathological deterioration of skeletal muscle tissue, often accompanied by loss of function" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Large1^myd-3J/Large1^myd-3J Genetic Background: STOCK Large1^myd-3J/GrsrJ
MP:0009420	skeletal muscle endomysial fibrosis	"replacement of the layer of connective tissue that ensheaths a muscle fiber by fibrous tissue resulting in separation of individual fibers" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Large1^{enr-Tg(MbpReg)36Pop}/Large1^{enr-Tg(MbpReg)36Pop} Genetic Background: involves: C57BL/6J * DBA/2J
MP:0010053	decreased grip strength	"reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire" [ISBN:0471316393 "Crawley, JN, What s Wrong with my Mouse: Behavioral Phenotyping of Transgenic and Knockout Mice"]	Show Allelic Composition: Il6^tm1Poli/Il6^tm1Poli Genetic Background: CAnNCrl.129S(Cg)-Il6^tm1Poli
MP:0010090	increased circulating creatine kinase level	"an elevation in the concentration in the blood of an enzyme that catalyzes the reversible transfer of creatine to phosphocreatine" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Large1^myd/Large1^myd Genetic Background: B6C3Fe a/a-Large1^myd/J
MP:0011966	abnormal auditory brainstem response waveform shape	"any anomaly in the characteristic pattern of electrical activity recording of a series of vertex positive waves generated by neurons in the ascending auditory system, that can be recorded from scalp electrograms by using computer-averaged responses to short tone bursts" [MGI:csmith]	Show Allelic Composition: Large1^myd/Large1^myd Genetic Background: B6C3Fe a/a-Large1^myd/J

Interacting proteins (from Reactome)

Interactor ID	Name	Interaction type
ENSMUSG00000047379	B4gat1 / Q8BWP8 / Beta-1,4-glucuronyltransferase 1 / O43505*	/ complex

1 s.

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