Manteia - Molecule gene

ENSMUSG00000028763

Mus musculus

Features

Gene ID:	ENSMUSG00000028763

Biological name :	Hspg2

Synonyms :	Hspg2 / perlecan (heparan sulfate proteoglycan 2)

Possible biological names infered from orthology :	heparan sulfate proteoglycan 2 / P98160

Species:	Mus musculus

Chr. number:	4
Strand:	1
Band:	D3
Gene start:	137468769
Gene end:	137570630

Corresponding Affymetrix probe sets:	10509280 (MoGene1.0st) 1418669_at (Mouse Genome 430 2.0 Array) 1418670_s_at (Mouse Genome 430 2.0 Array)

Cross references:	Ensembl peptide - ENSMUSP00000030547 Ensembl peptide - ENSMUSP00000131316 NCBI entrez gene - 15530 See in Manteia. MGI - MGI:96257 RefSeq - NM_008305 RefSeq - XM_006538573 RefSeq - XM_006538575 RefSeq Peptide - NP_032331 swissprot - E9PZ16 swissprot - B1B0C7 Ensembl - ENSMUSG00000028763

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

Ortholog prediction (from Ensembl)

Ortholog name	ID	Species
hspg2	ENSDARG00000076564	Danio rerio
HSPG2	ENSGALG00000035717	Gallus gallus
HSPG2	ENSG00000142798	Homo sapiens

Paralog prediction (from Ensembl)

Paralog name	ID	Similarity(%)
Agrn / A2ASQ1 / Agrin Agrin N-terminal 110 kDa subunit Agrin C-terminal 110 kDa subunit Agrin C-terminal 90 kDa fragment Agrin C-terminal 22 kDa fragment / agrin* / O00468*	ENSMUSG00000041936	12
Egflam / Q4VBE4 / Pikachurin / Q63HQ2* / EGF like, fibronectin type III and laminin G domains*	ENSMUSG00000042961	7

Protein motifs (from Interpro)

Interpro ID	Name
IPR000034	Laminin IV
IPR000082	SEA domain
IPR000742	EGF-like domain
IPR001791	Laminin G domain
IPR001881	EGF-like calcium-binding domain
IPR002049	Laminin EGF domain
IPR002172	Low-density lipoprotein (LDL) receptor class A repeat
IPR003598	Immunoglobulin subtype 2
IPR003599	Immunoglobulin subtype
IPR007110	Immunoglobulin-like domain
IPR013032	EGF-like, conserved site
IPR013098	Immunoglobulin I-set
IPR013106	Immunoglobulin V-set domain
IPR013320	Concanavalin A-like lectin/glucanase domain superfamily
IPR013783	Immunoglobulin-like fold
IPR023415	Low-density lipoprotein (LDL) receptor class A, conserved site
IPR036055	LDL receptor-like superfamily
IPR036179	Immunoglobulin-like domain superfamily

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
cellular_component	GO:0005576	extracellular region	IEA
cellular_component	GO:0005615	extracellular space	IEA
cellular_component	GO:0031012	extracellular matrix	IEA
molecular_function	GO:0005509	calcium ion binding	IEA
molecular_function	GO:0005515	protein binding	IEA
molecular_function	GO:0008022	protein C-terminus binding	IEA

Pathways (from Reactome)

Pathway description

Degradation of the extracellular matrix

A tetrasaccharide linker sequence is required for GAG synthesis

HS-GAG biosynthesis

HS-GAG degradation

Integrin cell surface interactions

Laminin interactions

Non-integrin membrane-ECM interactions

ECM proteoglycans

Retinoid metabolism and transport

Phenotype (from MGI, Zfin or HPO)

ID	Phenotype	Definition	Genetic BG
MP:0000026	abnormal inner ear morphology	"malformation or malfunction of any components of the labyrinth, including the semicircular canals, vestibule and cochlea" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:1776]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0000049	abnormal middle ear morphology	"malformation or malfunction of any components of the tympanic cavity or its ossicles" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0000060	delayed bone ossification	"late onset of the formation of bone" [J:40203]	Show Allelic Composition: Hprt^tm1Detl/Y Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J Allelic Composition: Hspg2^tm1Rdgr/Hspg2^tm1Rdgr Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0000065	abnormal bone marrow cavities	"absence or abnormal size or shape of the medullary cavities of the bones" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61295]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0000075	absent neurocranium	"missing bones of the skull enclosing the brain" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0000088	short mandible	"reduced length of the lower bony framework of the mouth where the inferior teeth are held" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Hprt^tm1Detl/Y Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0000100	abnormal ethmoidal bone morphology	"defect in the midline facial bone that encloses the nasal cavity" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0000104	abnormal sphenoid bone morphology	"malformed irregularly shaped bone of the base of the skull" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
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: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
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: Hspg2^tm1.1Rdgr/Hspg2^tm1.1Rdgr Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0000131	abnormal long bone epiphysis morphology	"the head of a developing long bone that is separated from the shaft by the epiphyseal plate" [J:61509]	Show Allelic Composition: Hspg2^tm1Rdgr/Hspg2^tm1Rdgr Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0000133	abnormal long bone metaphysis morphology	"malformed conical section of bone between the epiphysis and diaphysis of the long bones" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:61295]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref,Mmp9^tm1Tvu/Mmp9^tm1Tvu Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ
MP:0000141	abnormal vertebral body morphology	"malformed main portion of the vertebra anterior to the vertebral canal" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:55583]	Show Allelic Composition: Hprt^tm1Detl/Y Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
MP:0000150	abnormal rib morphology	"malformed bones forming the bony wall of the chest" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:50311]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0000157	abnormal sternum morphology	"malformed long flat bone of the chest; articulates with clavicle and first seven rib pairs" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:19212]	Show Allelic Composition: Hspg2^tm1Rdgr/Hspg2^tm1Rdgr Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0000163	abnormal cartilage morphology	"anomalous structure or development of the nonvascular, resilient, flexible connective tissue found primarily in joints, walls of the throax, and tubular structures, but which also comprises most of the skeleton in early fetal life " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Hprt^tm1Detl/Y Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0000164	abnormal cartilage development	"anomalous formation of the nonvascular, resilient, flexible connective tissue found primarily in joints, walls of the throax, and tubular structures, but which also comprises most of the skeleton in early fetal life " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Hprt^tm1Detl/Y Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0000165	abnormal hypertrophic chondrocyte zone	"anomaly of the cartilage cell matrix layer " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:58795]	Show Allelic Composition: Hprt^tm1Detl/Y Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ Allelic Composition: Hspg2^tm1.1Rdgr/Hspg2^tm1.1Rdgr Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0000166	abnormal chondrocyte morphology	"anomalous structure, organization, or differentiation of nondividing cartilage cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:40203]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0000288	abnormal pericardium morphology	"malformation of the fibroserous membrane covering the heart and beginning of the great vessels" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cml, J:54408]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0000428	abnormal craniofacial morphology	"anomalous structure or development of the face and/or cranium" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Hprt^tm1Detl/Y Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
MP:0000438	abnormal skull morphology	"anomalous structure or development of the cranium" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Hprt^tm1Detl/Y Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0000440	domed skull		Show Allelic Composition: Hprt^tm1Detl/Y Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0000445	short snout	"reduced length of the anterior facial part of the muzzle" [J:53370]	Show Allelic Composition: Hprt^tm1Detl/Y Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
MP:0000547	short limbs	"reduced average length of the extremities" [MGI:CLS, J:61509]	Show Allelic Composition: Hprt^tm1Detl/Y Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0000550	abnormal forelimb morphology	"malformation of the entire anterior extremities" [MGI:tc]	Show Allelic Composition: Hprt^tm1Detl/Y Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
MP:0000556	abnormal hindlimb morphology	"malformation of the entire posterior extremities" [MGI:tc]	Show Allelic Composition: Hprt^tm1Detl/Y Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
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: Hspg2^tm1Rdgr/Hspg2^tm1Rdgr Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0000602	enlarged sinusoidal spaces	"larger than normal sized cavities in the liver " [J:23170]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0000787	abnormal telencephalon morphology	"any malformation or absence of the paired anteriolateral division of the prosencephalon plus the lamina terminalis from which the olfactory lobes, cerebral cortex, and subcortical nuclei are derived " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0000914	exencephaly	"neurocranial defects resulting in exposure or extrusion of the brain" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]	Show Allelic Composition: Hprt^tm1Detl/Y Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
MP:0000921	demyelination	"loss of the myelin sheath without loss of axons or fiber tracts" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Oca2^p-88H/Oca2^p Genetic Background: involves: 101/H
MP:0001053	abnormal neuromuscular synapse	"malformed or absent membrane to membrane contact of a motor axon and a muscle myofiber resulting in aberrant transmission of nerve impulses" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159, J:47439]	Show Allelic Composition: Hprt^tm1Detl/Y Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J Allelic Composition: Hspg2^tm1.1Soni/Hspg2^tm1.1Soni Genetic Background: involves: 129S/SvEv * C57BL/6 Allelic Composition: Hspg2^tm1Soni/Hspg2^tm1Soni Genetic Background: involves: 129S/SvEv * DBA/2J
MP:0001182	lung hemorrhage	"bleeding in the respiratory organs" [J:66345]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0001258	decreased body length	"decreased crown to tail distance compared to controls" [cwg:Carroll W. Goldsmith, Mouse Genome Informatics Curator]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ Allelic Composition: Hspg2^tm1Rdgr/Hspg2^tm1Rdgr Genetic Background: involves: 129S1/Sv * 129X1/SvJ Allelic Composition: Hspg2^tm1.1Soni/Hspg2^tm1.1Soni Genetic Background: involves: 129S/SvEv * C57BL/6
MP:0001262	decreased body weight	"lower than normal average weight " [J:61295]	Show Allelic Composition: Hspg2^tm1Rdgr/Hspg2^tm1Rdgr Genetic Background: involves: 129S1/Sv * 129X1/SvJ Allelic Composition: Hspg2^tm1Soni/Hspg2^tm1Soni Genetic Background: involves: 129S/SvEv * C57BL/6 Allelic Composition: Hspg2^tm1.1Soni/Hspg2^tm1.1Soni Genetic Background: involves: 129S/SvEv * C57BL/6
MP:0001290	delayed eyelid opening	"late average time for the first postnatal eye opening" [J:17792]	Show Allelic Composition: Hspg2^tm1Soni/Hspg2^tm1Soni Genetic Background: involves: 129S/SvEv * C57BL/6 Allelic Composition: Hspg2^tm1.1Soni/Hspg2^tm1.1Soni Genetic Background: involves: 129S/SvEv * C57BL/6
MP:0001297	microphthalmia	"reduced average size of the eyes" [J:18048]	Show Allelic Composition: Hspg2^tm1Rdgr/Hspg2^tm1Rdgr Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0001406	abnormal gait	"unusual or distinctive way of walking" [J:65038]	Show Allelic Composition: Hspg2^tm1Rdgr/Hspg2^tm1Rdgr Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0001636	irregular heartbeat	"uneven timing of heart contraction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:33038]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0001698	reduced embryo size	"smaller proportions of embryo compared to littermates" [J:61790]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0001914	hemorrhage	"loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0001915	intracranial hemorrhage	"bleeding within the skull, including hemorrhage into the brain and within the cranial epidural, subdural, and subarachnoid spaces" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0001953	respiratory failure	"cessation of or failure to commence breathing" [MGI:cls, J:60159]	Show Allelic Composition: Hprt^tm1Detl/Y Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
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: Hspg2^tm1Soni/Hspg2^tm1Soni Genetic Background: involves: 129S/SvEv * C57BL/6
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: Hspg2^tm1.1Rdgr/Hspg2^tm1.1Rdgr Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0002152	abnormal brain morphology	"anomalous structure of or abnormal development of the brain, one of the two components of the central nervous system and the center of thought and emotion; controls coordination, bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, http://cancerweb.ncl.ac.uk]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0002397	abnormal bone marrow morphology	"structural anomalies in the soft tissue that fills the cavities of bones" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Hspg2^tm1.1Rdgr/Hspg2^tm1.1Rdgr Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0002427	dwarfism	"abnormally undersized with disproportionate body parts" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Hprt^tm1Detl/Y Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0002657	chondrodystrophy	"abnormal development of the cartilage primordia of long bones, resulting in abnormally short extremities but normal head and trunk" [il:Ira Lu , Mouse Genome Informatics Curator]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ Allelic Composition: Hspg2^tm1.1Soni/Hspg2^tm1.1Soni Genetic Background: involves: 129S/SvEv * C57BL/6
MP:0002746	abnormal semilunar valve morphology	"malformation of the valves that gate the flow of blood from the ventricles into the aorta and pulmonary trunk" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:82728]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0002747	abnormal aortic valve morphology	"malformation of the valve between the left ventricle and the ascending aorta" [J:82728, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0002748	abnormal pulmonary valve morphology	"malformation of the valve between the right ventricle and the pulmonary trunk" [J:82728, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0002914	abnormal endplate potential activity	"defect in the excitatory response of peripheral synapses to stimulation; these amplitudes are larger than central synapse potentials" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]	Show Allelic Composition: Hspg2^tm1.1Soni/Hspg2^tm1.1Soni Genetic Background: involves: 129S/SvEv * C57BL/6
MP:0002932	abnormal joint	"defect in the articulation point of two or more bones" [RGD:Rat Genome Database submission, MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Hspg2^tm1.1Soni/Hspg2^tm1.1Soni Genetic Background: involves: 129S/SvEv * C57BL/6
MP:0003044	impaired basement membrane formation	"defect in the organization and/or placement of the extracellular supportive tissue closely adjacent to the basal surface of the epithelium of muscle cells, fat cells and Schwann cells, which is comprised of type IV collagen, laminin, and sulfated proteoglycans and other components" [MeSH:National Library of Medicine - Medical Subject Headings, 2003, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
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: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ Allelic Composition: Hspg2^tm1Rdgr/Hspg2^tm1Rdgr Genetic Background: involves: 129S1/Sv * 129X1/SvJ
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: Hspg2^tm1.1Soni/Hspg2^tm1.1Soni Genetic Background: involves: 129S/SvEv * C57BL/6
MP:0003109	short femur	"reduced length of the long bone of the thigh" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Hspg2^tm1Rdgr/Hspg2^tm1Rdgr Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0003279	aneurysm	"a protruding sac formed by the dilation of the wall of an artery, a vein, or the heart resulting from a weakening of the vessel wall or heart muscle" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, ncbi:Matthew Mailman, NCBI request]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0003312	abnormal locomotor coordination	"reduced ability of an animal to maintain skillful and effective interaction of movements while engaging in locomotor activity" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Hspg2^tm1Rdgr/Hspg2^tm1Rdgr Genetic Background: involves: 129S1/Sv * 129X1/SvJ
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: Hspg2^tm1Rdgr/Hspg2^tm1Rdgr Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0003560	osteoarthritis	"a type of arthritis that is caused by the breakdown and eventual loss of the cartilage of one or more joints" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:95374]	Show Allelic Composition: Hspg2^tm1Rdgr/Hspg2^tm1Rdgr Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0003632	abnormal nervous system morphology		Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
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: Hspg2^tm1.1Rdgr/Hspg2^tm1.1Rdgr Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0003723	abnormal long bone morphology	"malformation of any of the several elongated bones of the extremities " [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ Allelic Composition: Hspg2^tm1Rdgr/Hspg2^tm1Rdgr Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0003795	abnormal bone structure		Show Allelic Composition: Hspg2^tm1Rdgr/Hspg2^tm1Rdgr Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0003871	abnormal myelin sheath morphology	"malformation of the insulating envelope that surrounds nerve fibers or axons" [smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Hspg2^tm1Soni/Hspg2^tm1Soni Genetic Background: involves: 129S/SvEv * DBA/2J
MP:0004056	abnormal myocardial compact layer morphology	"malformation of the outer, dense layer of the myocardium " [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0004110	transposition of great arteries	"cardiovascular malformation in which the aorta arises from the right ventricle while the pulmonary artery arises from the left ventricle" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0004134	abnormal chest morphology	"malformation of the part of the body between the neck and the abdomen " [smb:Susan M Bello, Mouse Genome Informatics Curator, J:59168]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0004145	abnormal muscle electrophysiology	"anomaly in the function of the musculature as it relates to electrical phenomena" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Hspg2^tm1.1Soni/Hspg2^tm1.1Soni Genetic Background: involves: 129S/SvEv * C57BL/6
MP:0004148	increased cortical bone thickness	"thicker than normal superficial layer of compact bone" [brs:Beverly Richards-Smith, Mouse Genome Informatics Curator]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
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: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0004272	abnormal basement membrane morphology	"anomaly in the structure, organization and/or placement of the extracellular supportive tissue adjacent to the basal surface of the epithelia, including the epithelium of muscle cells, fat cells and Schwann cells; it is comprised of type IV collagen, laminin, and sulfated proteoglycans and other components and consists of two layers, the basal lamina and the lamina reticularis" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MESH:A10.272.220]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
MP:0004351	short humerus	"reduced length of one or both of the bones of the forelimb that articulates with the scapula above and the radius and ulna below" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref,Mmp9^tm1Tvu/Mmp9^tm1Tvu Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ
MP:0004373	bowed humerus	"increased curvature of the bone of the forelimb that articulates with the scapula above and the radius and ulna below" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Hspg2^tm1Rdgr/Hspg2^tm1Rdgr Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0004376	absent frontal bone	"absence of the bone forming the forehead and roof of the eye orbit" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0004419	absent parietal bone	"absence of the curved bone forming part of the vault of the cranium" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0004471	short nasal bone	"reduced length of either of two rectangular bone plates forming the bridge of the nose" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0004509	abnormal pelvic girdle bone morphology	"any structural anomaly of the bones of the pelvis by which the limbs attach to the axial skeleton " [MGI:cwg "Carroll-Ann W. Goldsmith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Hspg2^tm1Rdgr/Hspg2^tm1Rdgr Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0004669	enlarged vertebral body	"increased size of the main cylindrical portion of the vertebra ventral to the vertebral canal" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0004686	decreased length of long bones	"reduced end-to-end length of the several elongated bones of the extremities" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ Allelic Composition: Hspg2^tm1Rdgr/Hspg2^tm1Rdgr Genetic Background: involves: 129S1/Sv * 129X1/SvJ
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: Hspg2^tm1Rdgr/Hspg2^tm1Rdgr Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0004783	abnormal cardinal vein morphology	"any structural anomaly of any of the four veins in the developing vertebrate embryo which run along each side of the vertebral column" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0004835	abnormal miniature endplate potential	"defect in the size or duration of spontaneous currents detected in PNS postsynaptic cells that occur in the absence of an excitatory impulse" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Hspg2^tm1.1Soni/Hspg2^tm1.1Soni Genetic Background: involves: 129S/SvEv * C57BL/6
MP:0004924	abnormal behavior	"anomalies in the actions, reactions, or performance of an organism in response to external or internal stimuli compared to controls" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Hspg2^tm1Soni/Hspg2^tm1Soni Genetic Background: involves: 129S/SvEv * C57BL/6 Allelic Composition: Hspg2^tm1.1Soni/Hspg2^tm1.1Soni Genetic Background: involves: 129S/SvEv * C57BL/6
MP:0004982	abnormal osteoclast morphology	"any structural anomaly of the bone resorpting cells that remove bone tissue by degrading the mineralized matrix" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Hspg2^tm1Rdgr/Hspg2^tm1Rdgr Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0004984	increased osteoclast cell number	"greater than average number of the bone resorpting cells that remove bone tissue by degrading the mineralized matrix" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Hspg2^tm1Rdgr/Hspg2^tm1Rdgr Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0005229	abnormal intervertebral disk development	"anomalous fromation of the cartilagenous and gelatinous structure found between vertebrae" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0005244	hemopericardium	"bleeding into the pericardial space" [Pathology:ISBN 0-397-51047-0]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0005269	abnormal occipital bone morphology	"anomalous structure of the bone at the lower, posterior part of the skull" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0005296	abnormal humerus morphology	"malformation of the bone of the forelimb that articulates with the scapula above and the radius and ulna below" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Hspg2^tm1Rdgr/Hspg2^tm1Rdgr Genetic Background: involves: 129S1/Sv * 129X1/SvJ
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: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0005402	abnormal action potential	"change in the electric response of a nerve or other excitable tissue to its stimulation" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Hspg2^tm1Soni/Hspg2^tm1Soni Genetic Background: involves: 129S/SvEv * DBA/2J
MP:0005404	abnormal axon morphology	"anomaly in the structure of the single process of a nerve cell that normally conducts impulses away from the cell body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Hspg2^tm1Soni/Hspg2^tm1Soni Genetic Background: involves: 129S/SvEv * DBA/2J
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: Hprt^tm1Detl/Y Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ Allelic Composition: Hspg2^tm1Rdgr/Hspg2^tm1Rdgr Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0005545	abnormal lens development	"aberrant formation of the transparent structure of the eye responsible for focusing light rays" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Prnd^tm1Dwm/Prnd^tm1Dwm Genetic Background: 129P2/OlaHsd-Prnd^tm1Dwm
MP:0005621	abnormal cell physiology	"aberration in the vital processes of the cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, hdene:Howard Dene , Mouse Genome Informatics Curator]	Show Allelic Composition: Hspg2^tm1Rdgr/Hspg2^tm1Rdgr Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0006126	abnormal outflow tract development	"anomaly in the development of the common arterial trunk that forms the aorta and pulmonary artery" [smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0006397	disorganized long bone epiphyseal plate	"a lack of the regular arrangement of the cells or zones of the epiphyseal plate" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Hprt^tm1Detl/Y Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref,Mmp9^tm1Tvu/Mmp9^tm1Tvu Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ
MP:0008151	increased diameter of long bones	"increased width of the cross-sectional distance that extends from one lateral edge of a long bone, through its center and to the opposite lateral edge" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Hspg2^tm1Rdgr/Hspg2^tm1Rdgr Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0008160	increased diameter of humerus	"increased width of the cross-sectional distance that extends from one lateral edge of the humerus, through its center and to the opposite lateral edge" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref,Mmp9^tm1Tvu/Mmp9^tm1Tvu Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ Allelic Composition: Hspg2^tm1Rdgr/Hspg2^tm1Rdgr Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0008271	abnormal bone ossification	"any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance" [GO:0001503]	Show Allelic Composition: Hprt^tm1Detl/Y Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J Allelic Composition: Hspg2^tm1Rdgr/Hspg2^tm1Rdgr Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0008272	abnormal endochondral bone ossification	"anomaly in the process of the formation of bone by the replacement of cartilage tissue with mineralized bone" [GO:0001958]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0008525	decreased skull height	"decrease in the distance between the cranial base and the upper domelike portion of the skull" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Hspg2^tm1Rdgr/Hspg2^tm1Rdgr Genetic Background: involves: 129S1/Sv * 129X1/SvJ
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: Hspg2^tm1.1Soni/Hspg2^tm1.1Soni Genetic Background: involves: 129S/SvEv * C57BL/6
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: Hspg2^tm1.1Soni/Hspg2^tm1.1Soni Genetic Background: involves: 129S/SvEv * C57BL/6
MP:0009409	abnormal skeletal muscle fiber type ratio	"deviation from the standard ratios of fiber types in a given skeletal muscle compared to control samples" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Hspg2^tm1.1Soni/Hspg2^tm1.1Soni Genetic Background: involves: 129S/SvEv * C57BL/6
MP:0009459	skeletal muscle hyperplasia	"overdevelopment or increased size of the skeletal muscle, usually due an increased number of cells" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]	Show Allelic Composition: Hspg2^tm1Rdgr/Hspg2^tm1Rdgr Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0010426	abnormal heart and great artery attachment	"any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0010472	abnormal ascending aorta and coronary artery attachment	"any anomaly of the connection site of any or all of the coronary arteries to the ascending aorta" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0010584	abnormal conotruncus septation	"anomaly in the process in which the conotruncus separates into the conus cordis, which will give rise to the outflow regions of the ventricles, and the truncus arteriosus which will be divided into proximal ends of the ascending aorta and pulmonary trunk" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0010586	absent conotruncal ridges	"absence of the pair of spiral mesenchymal swellings in the primordial ventricular outflow tract, that eventually fuse to form the conotruncal septum, dividing the subvalvular outflow tract and contributing to the membranous interventricular septum" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", PMID:8823298]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0010588	conotruncal ridge hyperplasia	"overdevelopment or increased size of the pair of spiral mesenchymal swellings in the primordial ventricular outflow tract, that eventually fuse to form the conotruncal septum, dividing the subvalvular outflow tract and contributing to the membranous interventricular septum" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", PMID:8823298]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0010732	abnormal node of Ranvier morphology	"any structural anomaly of the short unmyelinated segments of an axon between myelinated segments, where voltage gated channels accumulate and regenerate an action potential as it is conducted along the axon" [PMID:18929652]	Show Allelic Composition: Hspg2^tm1Soni/Hspg2^tm1Soni Genetic Background: involves: 129S/SvEv * DBA/2J
MP:0010734	abnormal paranode morphology	"any structural anomaly of the axon region immediately adjacent to nodes of Ranvier, where a series of cytoplasmic loops from the overlying glial cell form septate-like junctions with the axon; the axoglial junctions act as a diffusion barrier between the node and internode" [PMID:16224497]	Show Allelic Composition: Hspg2^tm1Soni/Hspg2^tm1Soni Genetic Background: involves: 129S/SvEv * DBA/2J
MP:0010738	abnormal internode morphology	"any structrual anomaly of the intervening axon segment that is located between the juxtaparanodes and is surrounded by a single compact myelin sheath" [PMID:18929652]	Show Allelic Composition: Hspg2^tm1Soni/Hspg2^tm1Soni Genetic Background: involves: 129S/SvEv * DBA/2J
MP:0010742	increased Schwann cell number	"greater than normal number of cells that sheath the axons of the peripheral nervous system" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Hspg2^tm1Soni/Hspg2^tm1Soni Genetic Background: involves: 129S/SvEv * DBA/2J
MP:0011090	partial perinatal 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 within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]	Show Allelic Composition: Hprt^tm1Detl/Y Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0011108	partial embryonic lethality during organogenesis	"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 embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]	Show Allelic Composition: Hprt^tm1Detl/Y Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0011514	skin hemorrhage	"bleeding into the skin" [MGI:anna]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
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: Hspg2^tm1Rdgr/Hspg2^tm1Rdgr Genetic Background: involves: 129S1/Sv * 129X1/SvJ
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: Hprt^tm1Detl/Y Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
MP:0020137	decreased bone mineralization	"decrease in the rate at which minerals are deposited into bone" []	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0020390	abnormal radial glial cell endfoot morphology	"any structural anomaly of the tip of the elongated basal process that extends from the cell body of a radial glial cell through the entire cortical wall; the tip of the basal process, known as the basal endfoot, attaches to the pial basement membrane" [PMID:26382033]	Show Allelic Composition: Hspg2^tm1Ref/Hspg2^tm1Ref Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
MP:0030029	wide cranial sutures	"an abnormally increased width of one or more cranial sutures for age-related norms, generally resulting from delayed suture closure" [HP:0010537]	Show Allelic Composition: Hprt^tm1Detl/Y Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Interacting proteins (from Reactome)

Interactor ID	Name	Interaction type
ENSMUSG00000059481	Plg / P20918 / Plasminogen Plasmin heavy chain A Activation peptide Angiostatin Plasmin heavy chain A, short form Plasmin light chain B / LPA* / P00747* / P08519* / plasminogen* / lipoprotein(a)*	/ reaction
ENSMUSG00000022098	Bmp1 / P98063 / Bone morphotic protein 1 / P13497* / bone morphogenetic protein 1*	/ reaction
ENSMUSG00000025013	Tll2 / Q9WVM6 / Tolloid-like protein 2 / Q9Y6L7* / tolloid like 2*	/ reaction
ENSMUSG00000031790	Mmp15 / O54732 / Matrix metalloproteinase-15 / P51511* / matrix metallopeptidase 15*	/ reaction
ENSMUSG00000025809	Itgb1 / P09055 / Integrin beta-1 / P05556* / integrin subunit beta 1*	/ complex / reaction
ENSMUSG00000015533	Itga2 / Q62469 / Integrin alpha-2 / P17301* / integrin subunit alpha 2*	/ complex / reaction
ENSMUSG00000053626	Tll1 / tolloid-like / O43897* / tolloid like 1*	/ reaction
ENSMUSG00000000957	Mmp14 / P53690 / Matrix metalloproteinase-14 / P50281* / matrix metallopeptidase 14*	/ reaction
ENSMUSG00000039952	Dag1 / Q62165 / Dystroglycan Alpha-dystroglycan Beta-dystroglycan / Q14118* / dystroglycan 1*	/ reaction / complex
ENSMUSG00000062960	Kdr / kinase insert domain receptor / P35968*	/ complex / reaction

1 s.

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		© Olivier Tassy / Olivier Pourquie 2007-2024 contact: otassy@igbmc.fr