Manteia - Molecule gene

ENSMUSG00000026131

Mus musculus

Features

Gene ID:	ENSMUSG00000026131

Biological name :	Dst

Synonyms :	Dst / Dystonin / Q91ZU6

Possible biological names infered from orthology :	Q03001

Species:	Mus musculus

Chr. number:	1
Strand:	1
Band:	B
Gene start:	33908225
Gene end:	34308661

Corresponding Affymetrix probe sets:	10345241 (MoGene1.0st) 1421117_at (Mouse Genome 430 2.0 Array) 1421276_a_at (Mouse Genome 430 2.0 Array) 1423626_at (Mouse Genome 430 2.0 Array) 1439340_at (Mouse Genome 430 2.0 Array) 1450119_at (Mouse Genome 430 2.0 Array)

Cross references:	Ensembl peptide - ENSMUSP00000138591 Ensembl peptide - ENSMUSP00000138570 Ensembl peptide - ENSMUSP00000139888 Ensembl peptide - ENSMUSP00000148563 Ensembl peptide - ENSMUSP00000142098 Ensembl peptide - ENSMUSP00000141811 Ensembl peptide - ENSMUSP00000141127 Ensembl peptide - ENSMUSP00000140560 Ensembl peptide - ENSMUSP00000095392 Ensembl peptide - ENSMUSP00000095393 Ensembl peptide - ENSMUSP00000110756 Ensembl peptide - ENSMUSP00000138308 Ensembl peptide - ENSMUSP00000138376 Ensembl peptide - ENSMUSP00000138426 NCBI entrez gene - 13518 See in Manteia. MGI - MGI:104627 RefSeq - XM_017314868 RefSeq - XM_017314621 RefSeq - XM_017314635 RefSeq - XM_017314651 RefSeq - XM_017314665 RefSeq - XM_017314676 RefSeq - XM_017314687 RefSeq - XM_017314689 RefSeq - XM_017314706 RefSeq - XM_017314712 RefSeq - XM_017314716 RefSeq - XM_017314722 RefSeq - XM_017314741 RefSeq - XM_017314750 RefSeq - XM_017314794 RefSeq - XM_017314811 RefSeq - XM_017314848 RefSeq - NM_001276764 RefSeq - NM_010081 RefSeq - NM_133833 RefSeq - NM_134448 RefSeq - XM_006495666 RefSeq - XM_006495669 RefSeq - XM_006495674 RefSeq - XM_006495678 RefSeq - XM_006495679 RefSeq - XM_006495680 RefSeq - XM_006495682 RefSeq - XM_006495684 RefSeq - XM_006495685 RefSeq - XM_006495686 RefSeq - XM_006495688 RefSeq - XM_006495690 RefSeq - XM_006495691 RefSeq Peptide - NP_598594 RefSeq Peptide - NP_604443 RefSeq Peptide - NP_001263693 RefSeq Peptide - NP_034211 swissprot - A0A087WSP0 swissprot - A0A087WRB8 swissprot - S4R1Y6 swissprot - S4R2A8 swissprot - S4R2C6 swissprot - A0A087WPR7 swissprot - Q91ZU6 swissprot - E9Q9X1 swissprot - S4R1P5 swissprot - A0A1D5RLZ3 swissprot - A0A0A6YXR1 swissprot - A0A0A6YX28 Ensembl - ENSMUSG00000026131

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

Ortholog prediction (from Ensembl)

Ortholog name	ID	Species
CABZ01044277.1	ENSDARG00000098631	Danio rerio
CABZ01044281.1	ENSDARG00000115956	Danio rerio
DST	ENSDARG00000101858	Danio rerio
si:ch211-165e15.1	ENSDARG00000102406	Danio rerio
DST	ENSGALG00000016289	Gallus gallus
DST	ENSG00000151914	Homo sapiens

Paralog prediction (from Ensembl)

Paralog name	ID	Similarity(%)
Macf1 / microtubule-actin crosslinking factor 1 / Q9UPN3*	ENSMUSG00000028649	42
Plec / Q9QXS1 / plectin / Q15149*	ENSMUSG00000022565	15
Dsp / E9Q557 / Desmoplakin / P15924*	ENSMUSG00000054889	8
Ppl / periplakin / O60437*	ENSMUSG00000039457	5
Evpl / Q9D952 / Envoplakin / Q92817*	ENSMUSG00000034282	5
Eppk1 / epiplakin 1	ENSMUSG00000115388	3

Protein motifs (from Interpro)

Interpro ID	Name
IPR001101	Plectin repeat
IPR001589	Actinin-type actin-binding domain, conserved site
IPR001715	Calponin homology domain
IPR002017	Spectrin repeat
IPR002048	EF-hand domain
IPR003108	GAR domain
IPR011992	EF-hand domain pair
IPR018159	Spectrin/alpha-actinin
IPR018247	EF-Hand 1, calcium-binding site
IPR030269	Plectin
IPR035915	Plakin repeat superfamily
IPR036534	GAR domain superfamily
IPR036872	CH domain superfamily

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
biological_process	GO:0007155	cell adhesion	IEA
biological_process	GO:0007409	axonogenesis	IMP
biological_process	GO:0008090	retrograde axonal transport	IMP
biological_process	GO:0031110	regulation of microtubule polymerization or depolymerization	IMP
biological_process	GO:0031122	cytoplasmic microtubule organization	IMP
biological_process	GO:0045104	intermediate filament cytoskeleton organization	ISS
cellular_component	GO:0005634	nucleus	IEA
cellular_component	GO:0005635	nuclear envelope	IEA
cellular_component	GO:0005737	cytoplasm	ISS
cellular_component	GO:0005783	endoplasmic reticulum	IEA
cellular_component	GO:0005789	endoplasmic reticulum membrane	IEA
cellular_component	GO:0005856	cytoskeleton	IEA
cellular_component	GO:0005874	microtubule	IEA
cellular_component	GO:0005882	intermediate filament	IEA
cellular_component	GO:0005886	plasma membrane	IEA
cellular_component	GO:0005938	cell cortex	IEA
cellular_component	GO:0014069	postsynaptic density	IDA
cellular_component	GO:0015629	actin cytoskeleton	IDA
cellular_component	GO:0015630	microtubule cytoskeleton	IDA
cellular_component	GO:0016020	membrane	IEA
cellular_component	GO:0016021	integral component of membrane	IEA
cellular_component	GO:0030018	Z disc	IEA
cellular_component	GO:0030054	cell junction	IEA
cellular_component	GO:0030056	hemidesmosome	IDA
cellular_component	GO:0030424	axon	IEA
cellular_component	GO:0031410	cytoplasmic vesicle	ISO
cellular_component	GO:0031673	H zone	IEA
cellular_component	GO:0035371	microtubule plus-end	ISS
cellular_component	GO:0042383	sarcolemma	IEA
cellular_component	GO:0042995	cell projection	IEA
cellular_component	GO:0060053	neurofilament cytoskeleton	IDA
cellular_component	GO:1904115	axon cytoplasm	IEA
molecular_function	GO:0003779	actin binding	IEA
molecular_function	GO:0005509	calcium ion binding	IEA
molecular_function	GO:0005515	protein binding	IEA
molecular_function	GO:0008017	microtubule binding	IEA
molecular_function	GO:0008092	cytoskeletal protein binding	IEA
molecular_function	GO:0046872	metal ion binding	IEA
molecular_function	GO:0051010	microtubule plus-end binding	ISS

Pathways (from Reactome)

Pathway description

Assembly of collagen fibrils and other multimeric structures

Type I hemidesmosome assembly

Phenotype (from MGI, Zfin or HPO)

ID	Phenotype	Definition	Genetic BG
MP:0000333	decreased bone marrow cell number	"decreased number of cells that make up the core cavities of bones when compared to the norm" [tc:Teresa Chu , Mouse Genome Informatics Curator, J:60896]	Show Allelic Composition: Grin1^tm1Stl/Grin1⁺,Nf1^tm1Tyj/Nf1⁺ Genetic Background: involves: 129S2/SvPas * C57BL/6J
MP:0000414	alopecia	"absence of hair or loss of hair; not usually in reference to primary genetic hairlessness but may be due to dietary, stress, secondary to immune condition" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:30772, J:33796]	Show Allelic Composition: Dst^tm1Efu/Dst^tm1Efu Genetic Background: involves: C57BL/6
MP:0000585	kinked tail	"a sharp bend or zig-zag in the tail" [J:61295]	Show Allelic Composition: Dst^tm1Efu/Dst^tm1Efu Genetic Background: involves: C57BL/6
MP:0000743	muscle spasms	"muscular twitching, cramps and seizures ; frequently associated with calcium deficiency, hypoparathyroidism, vitamin D deficiency or alkalosis " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Dst^dt-38J/Dst^dt-38J Genetic Background: involves: BALB/cByJ * C57BL/6J
MP:0000745	tremors	"repetitive, cyclical movements of the body or a body part; usually involuntary, but can also manifest in response to an attempt at movement" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Dst^dt-J/Dst^dt-J Genetic Background: B6C3Fe a/a-Dst^dt-J/J
MP:0000746	weakness	"state of being infirm or less strong than littermates" [J:45400]	Show Allelic Composition: Dst^dt-38J/Dst^dt-38J Genetic Background: involves: BALB/cByJ * C57BL/6J
MP:0000747	muscle weakness	"loss of muscle strength" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]	Show Allelic Composition: Aqp2^F204V/Aqp2^F204V Genetic Background: C57BL/6-Aqp2^F204V
MP:0000754	partial paralysis	"partial loss of power of voluntary movement in a muscle through injury or disease of it or its nerve supply" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Dst^dt/Dst^dt Genetic Background: Q-Dst^dt
MP:0000774	reduced brain size	"smaller appearance of the brain" [J:35802]	Show Allelic Composition: Dst^{Gt(E182H05)Wrst}/Dst^{Gt(E182H05)Wrst} Genetic Background: B6NCrj.129P2-Dst^{Gt(E182H05)Wrst}
MP:0000911	abnormal trigeminal motor nucleus morphology	"malformation or disorganization of the group of motor neurons innervating the muscles of mastication" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Dst^{Gt(E182H05)Wrst}/Dst^{Gt(E182H05)Wrst} Genetic Background: B6NCrj.129P2-Dst^{Gt(E182H05)Wrst}
MP:0000920	abnormal myelination	"atypical or altered myelination in axon sheaths" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Aqp2^F204V/Aqp2^F204V Genetic Background: C57BL/6-Aqp2^F204V Allelic Composition: Dst^dt-27J/Dst^dt-27J Genetic Background: B10.PL/(73NS)Sn-Dst^dt-27J/J Allelic Composition: Dst^dt-27J/Dst⁺ Genetic Background: B10.PL/(73NS)Sn-Dst^dt-27J/J Allelic Composition: Dst^Tg4/Dst⁺ Genetic Background: involves: CD-1
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: Grin1^tm1Stl/Grin1⁺,Nf1^tm1Tyj/Nf1⁺ Genetic Background: involves: 129S2/SvPas * C57BL/6J Allelic Composition: Dst^dt-27J/Dst^dt-27J Genetic Background: B10.PL/(73NS)Sn-Dst^dt-27J/J Allelic Composition: Dst^dt/Dst^dt Genetic Background: involves: C57BL/6 * Q Allelic Composition: Dst^{Gt(E182H05)Wrst}/Dst^{Gt(E182H05)Wrst} Genetic Background: B6NCrj.129P2-Dst^{Gt(E182H05)Wrst}
MP:0000958	peripheral nervous system degeneration	"a retrogressive impairment of function or destruction of the ganglia and peripheral nerves that lie outside the brain and spinal cord" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Aqp2^F204V/Aqp2^F204V Genetic Background: C57BL/6-Aqp2^F204V Allelic Composition: Dst^dt-27J/Dst^dt-27J Genetic Background: B10.PL/(73NS)Sn-Dst^dt-27J/J
MP:0000961	abnormal dorsal root ganglia morphology	"malformed group of nerve cell bodies of each segmental nerve projecting from the spinal cord " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:60159]	Show Allelic Composition: Aqp2^F204V/Aqp2^F204V Genetic Background: C57BL/6-Aqp2^F204V Allelic Composition: Dst^dt-27J/Dst^dt-27J Genetic Background: B10.PL/(73NS)Sn-Dst^dt-27J/J Allelic Composition: Dst^Tg4/Dst^Tg4 Genetic Background: involves: C57BL/6 * CD-1
MP:0000964	small dorsal root ganglia	"reduced size of the dorsal root ganglia" [J:17123]	Show Allelic Composition: Dst^Tg4/Dst^Tg4 Genetic Background: involves: C57BL/6 * CD-1 Allelic Composition: Dst^{Gt(E182H05)Wrst}/Dst^{Gt(E182H05)Wrst} Genetic Background: B6NCrj.129P2-Dst^{Gt(E182H05)Wrst}
MP:0000965	abnormal sensory neuron morphology	"malformation or absence of cells that innervate an effector (muscle or glandular) tissue; responsible for transmission of sensory impulses" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159]	Show Allelic Composition: Aqp2^F204V/Aqp2^F204V Genetic Background: C57BL/6-Aqp2^F204V Allelic Composition: Dst^dt-27J/Dst^dt-27J Genetic Background: B10.PL/(73NS)Sn-Dst^dt-27J/J Allelic Composition: Dst^Tg4/Dst^Tg4 Genetic Background: involves: C57BL/6 * CD-1
MP:0001002	abnormal taste bud morphology	"anomalous structure of the small sensory organs located in the tongue that contain gustatory receptor cells, basal cells, and supporting cells" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Aqp2^F204V/Aqp2^F204V Genetic Background: C57BL/6-Aqp2^F204V
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: Dst^Tg4/Dst^Tg4 Genetic Background: involves: C57BL/6 * CD-1
MP:0001074	abnormal vagus nerve morphology	"malformed or misprojection of autonomic, sensory and motor axons of the tenth cranial nerve to the pharynx, larynx, trachea, lungs, heart and GI tract" [Principles of Neural Science:ISBN 0-8385-8034-3, J:33038]	Show Allelic Composition: Aqp2^F204V/Aqp2^F204V Genetic Background: C57BL/6-Aqp2^F204V
MP:0001096	abnormal glossopharyngeal ganglion morphology	"malformed group of neuron cell bodies associated with the ninth cranial nerve" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Aqp2^F204V/Aqp2^F204V Genetic Background: C57BL/6-Aqp2^F204V
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: Aqp2^F204V/Aqp2^F204V Genetic Background: C57BL/6-Aqp2^F204V Allelic Composition: Dst^dt-27J/Dst^dt-27J Genetic Background: B10.PL/(73NS)Sn-Dst^dt-27J/J Allelic Composition: Dst^dt-27J/Dst⁺ Genetic Background: B10.PL/(73NS)Sn-Dst^dt-27J/J Allelic Composition: Dst^Tg4/Dst⁺ Genetic Background: involves: CD-1
MP:0001208	blistering	"accumulation of fluid- filled thin walled structures under the epidermis or within the epidermis" [J:65039]	Show Allelic Composition: Dst^tm1Efu/Dst^tm1Efu Genetic Background: involves: C57BL/6
MP:0001262	decreased body weight	"lower than normal average weight " [J:61295]	Show Allelic Composition: Dst^dt-J/Dst^dt-J Genetic Background: B6C3Fe a/a-Dst^dt-J/J Allelic Composition: Dst^m1Btlr/Dst^m1Btlr Genetic Background: C57BL/6J-Dst^m1Btlr
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: Grin1^tm1Stl/Grin1⁺,Nf1^tm1Tyj/Nf1⁺ Genetic Background: involves: 129S2/SvPas * C57BL/6J Allelic Composition: Dst^dt-38J/Dst^dt-38J Genetic Background: involves: BALB/cByJ * C57BL/6J
MP:0001299	abnormal eye distance/ position	"abnormal placement of the eyes in relation to each other or in relation to other craniofacial structures" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Dst^dt-J/Dst^dt-J Genetic Background: B6C3Fe a/a-Dst^dt-J/J
MP:0001344	blepharoptosis	"ptosis, drooping eyelids " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:24414]	Show Allelic Composition: Dst^Tg4/Dst^Tg4 Genetic Background: involves: C57BL/6 * CD-1
MP:0001393	ataxia	"inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]	Show Allelic Composition: Dsg3^tm1Stan/Dsg3^tm1Stan Genetic Background: involves: 129X1/SvJ * C57BL/6J Allelic Composition: Dst^dt-J/Dst^dt-J Genetic Background: B6C3Fe a/a-Dst^dt-J/J Allelic Composition: Dst^m1Btlr/Dst^m1Btlr Genetic Background: C57BL/6J-Dst^m1Btlr Allelic Composition: Dst^m3Btlr/Dst^m3Btlr Genetic Background: C57BL/6J-Dst^m3Btlr
MP:0001405	impaired coordination	"reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Dsg3^tm1Stan/Dsg3^tm1Stan Genetic Background: involves: 129X1/SvJ * C57BL/6J Allelic Composition: Dst^dt-J/Dst^dt-J Genetic Background: B6C3Fe a/a-Dst^dt-J/J Allelic Composition: Dst^Tg4/Dst^Tg4 Genetic Background: involves: C57BL/6 * CD-1
MP:0001406	abnormal gait	"unusual or distinctive way of walking" [J:65038]	Show Allelic Composition: Dst^Tg4/Dst^Tg4 Genetic Background: involves: C57BL/6 * CD-1
MP:0001408	stereotypic behavior	"repetitive, invariant, perseverative motor patterns that do not appear to be purposeful" [What s wrong with my mouse?:ISBN 0-471-31639-3]	Show Allelic Composition: Dst^m1Btlr/Dst^m1Btlr Genetic Background: C57BL/6J-Dst^m1Btlr
MP:0001415	increased exploration in new environment	"greater amount of time spent investigating new location" [J:28825]	Show Allelic Composition: Cecr2^{tm2b(EUCOMM)Hmgu}/Cecr2⁺ Genetic Background: C57BL/6N-Cecr2^{tm2b(EUCOMM)Hmgu}/Tcp
MP:0001489	decreased startle reflex	"greater threshold or less severe reflex response to variable stimuli, often auditory; usually measured by amplitude of whole body flinch" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, What s Wrong With My Mouse?:ISBN 0-471-31639-3]	Show Allelic Composition: Dst^dt-J/Dst^dt-J Genetic Background: B6C3Fe a/a-Dst^dt-J/J
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: Tas1r2^tm1Csz/Tas1r2^tm1Csz,Tas1r3^tm1Csz/Tas1r3^tm1Csz Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 Allelic Composition: Dst^dt-J/Dst^dt-J Genetic Background: B6C3Fe a/a-Dst^dt-J/J Allelic Composition: Dst^dt-38J/Dst^dt-38J Genetic Background: involves: BALB/cByJ * C57BL/6J Allelic Composition: Dst^dt-J/Dst^dt-J Genetic Background: C3HeB/FeJ-Dst^dt-J
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: Dst^dt-32J/Dst^dt-32J Genetic Background: involves: 129S/Sv * 129S2/SvPas Allelic Composition: Dst^dt/Dst^dt Genetic Background: involves: Q Allelic Composition: Dst^Tg4/Dst^Tg4 Genetic Background: involves: C57BL/6 * CD-1
MP:0001516	abnormal motor coordination/ balance	"altered ability of an animal to maintain skillful and effective interaction of movements or maintenance of equilibrium" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Dst^dt-J/Dst^dt-J Genetic Background: B6C3Fe a/a-Dst^dt-J/J Allelic Composition: Dst^dt-J/Dst^dt-J Genetic Background: C3HeB/FeJ-Dst^dt-J Allelic Composition: Dst^dt-39J/Dst^dt-39J Genetic Background: involves: NOD
MP:0001523	impaired righting response	"reduced ability or greater amount of time needed to recover from supine position" [J:25565]	Show Allelic Composition: Grin1^tm1Stl/Grin1⁺,Nf1^tm1Tyj/Nf1⁺ Genetic Background: involves: 129S2/SvPas * C57BL/6J Allelic Composition: Dst^tm1Efu/Dst^tm1Efu Genetic Background: involves: C57BL/6
MP:0001524	impaired limb coordination	"reduced ability to organize limb movements to execute complex maneuvers, such as walking" [J:64962, MGI:CLS, J:17123]	Show Allelic Composition: Aqp2^F204V/Aqp2^F204V Genetic Background: C57BL/6-Aqp2^F204V Allelic Composition: Dst^dt/Dst^dt Genetic Background: involves: Q Allelic Composition: Dst^m3Btlr/Dst^m3Btlr Genetic Background: C57BL/6J-Dst^m3Btlr Allelic Composition: Dst^{Gt(E182H05)Wrst}/Dst^{Gt(E182H05)Wrst} Genetic Background: B6NCrj.129P2-Dst^{Gt(E182H05)Wrst}
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: Dst^dt-J/Dst^dt-J Genetic Background: B6C3Fe a/a-Dst^dt-J/J
MP:0001527	athetotic walking movements	"characterized by slow, writhing involuntary movements of flexion, extension, pronation and supination of the paws and toes" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:18984]	Show Allelic Composition: Dst^dt-J/Dst^dt-J Genetic Background: C3HeB/FeJ-Dst^dt-J
MP:0001852	conjunctivitis	"inflammation of the mucous membrane that lines the inner surface of the eyelids" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60896]	Show Allelic Composition: Dst^Tg4/Dst^Tg4 Genetic Background: involves: C57BL/6 * CD-1
MP:0002064	seizures	"sudden and often acute manifestation of epileptic attack, sometimes convulsive" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Dsg3^tm1Stan/Dsg3^tm1Stan Genetic Background: involves: 129X1/SvJ * C57BL/6J
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: Akt1^tm1Hem/Akt1⁺,Akt2^tm1Hem/Akt2^tm1Hem,Akt3^tm1Hem/Akt3^tm1Hem Genetic Background: involves: 129P2/OlaHsd * C57BL/6
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: Aqp2^F204V/Aqp2^F204V Genetic Background: C57BL/6-Aqp2^F204V Allelic Composition: Dst^dt-32J/Dst^dt-32J Genetic Background: involves: 129S/Sv * 129S2/SvPas Allelic Composition: Dst^Tg4/Dst^Tg4 Genetic Background: involves: C57BL/6 * CD-1
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: Fkbp4^tm1Dvds/Fkbp4^tm1Dvds Genetic Background: either: (involves: CD-1) or (involves: 129X1/SvJ * C57BL/6) Allelic Composition: Dst^dt/Dst^dt Genetic Background: Q-Dst^dt Allelic Composition: Dst^dt/Dst^dt Genetic Background: involves: Q Allelic Composition: Dst^dt-30J/Dst^dt-30J Genetic Background: C57BL/6J-Dst^dt-30J/J Allelic Composition: Dst^dt-31J/Dst^dt-31J Genetic Background: DBA/1LacJ Allelic Composition: Dst^{Gt(E182H05)Wrst}/Dst^{Gt(E182H05)Wrst} Genetic Background: B6NCrj.129P2-Dst^{Gt(E182H05)Wrst}
MP:0002095	abnormal skin pigmentation	"variation of skin color or complexion" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Crb1^rd8/Crb1^rd8 Genetic Background: STOCK Crb1^rd8/J
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: Aqp2^F204V/Aqp2^F204V Genetic Background: C57BL/6-Aqp2^F204V
MP:0002183	gliosis	"increased growth pattern of neuroglia in a damaged area of the brain or spinal cord" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Dst^dt/Dst^dt Genetic Background: Q-Dst^dt
MP:0002229	CNS neurodegeneration	"a retrogressive impairment of function or destruction of neural tissue" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Dst^dt/Dst^dt Genetic Background: Q-Dst^dt Allelic Composition: Dst^dt/Dst^dt Genetic Background: involves: Q Allelic Composition: Dst^dt-30J/Dst^dt-30J Genetic Background: C57BL/6J-Dst^dt-30J/J Allelic Composition: Dst^{Gt(E182H05)Wrst}/Dst^{Gt(E182H05)Wrst} Genetic Background: B6NCrj.129P2-Dst^{Gt(E182H05)Wrst}
MP:0002269	muscular atrophy	"a wasting of muscle tissue resulting in a derangement of the muscle fibers; occurs with age, immobilization, weightlessness, malnutrition or denervation" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]	Show Allelic Composition: Dst^tm1Efu/Dst^tm1Efu Genetic Background: involves: C57BL/6
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: Dst^dt-27J/Dst^dt-27J Genetic Background: B10.PL/(73NS)Sn-Dst^dt-27J/J
MP:0002752	abnormal somatic nervous system morphology	"malformation or absence of any of the cranial and spinal nerves or their ganglia or the peripheral sensory receptors" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Dst^dt-27J/Dst^dt-27J Genetic Background: B10.PL/(73NS)Sn-Dst^dt-27J/J Allelic Composition: Dst^dt-32J/Dst^dt-32J Genetic Background: involves: 129S/Sv * 129S2/SvPas
MP:0002841	impaired skeletal muscle contractility	"inability or reduced ability of the skeletal muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]	Show Allelic Composition: Aqp2^F204V/Aqp2^F204V Genetic Background: C57BL/6-Aqp2^F204V
MP:0002882	abnormal neuron	"anomaly in the functional cells of the nervous system that receive, conduct, and transmit impulses " [MeSH:National Library of Medicine - Medical Subject Headings, 2003]	Show Allelic Composition: Dst^dt-alb/Dst^dt-alb Genetic Background: BALB/cByJ-Dst^dt-alb
MP:0002883	chromatolysis	"the dissolution of the granules of chromophil substance in a nerve cell body that may occur in injured cells or axons" [dlb:Donna Burkart , Mouse Genome Informatics Curator]	Show Allelic Composition: Grin1^tm1Stl/Grin1⁺,Nf1^tm1Tyj/Nf1⁺ Genetic Background: involves: 129S2/SvPas * C57BL/6J
MP:0002908	delayed wound healing	"longer time requirement for the ability to self-repair and close wounds than normal" [J:63037]	Show Allelic Composition: Dst^tm1Efu/Dst^tm1Efu Genetic Background: involves: C57BL/6
MP:0002980	abnormal postural reflex	"failure to respond with the normal extension of legs to maintain balance when the cage is tilted" [smb:Susan M. Bello , Mouse Genome Informatics Curator, J:88306]	Show Allelic Composition: Dst^dt-J/Dst^dt-J Genetic Background: B6C3Fe a/a-Dst^dt-J/J
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: Aqp2^F204V/Aqp2^F204V Genetic Background: C57BL/6-Aqp2^F204V
MP:0003224	neuron degeneration	"a retrogressive impairment of function or destruction of the functional cells of the nervous system that receive, conduct, and transmit impulses " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Dst^Tg4/Dst^Tg4 Genetic Background: involves: C57BL/6 * CD-1
MP:0003225	axonal dystrophy	"axon degeneration resulting from inadequate or faulty metabolism" [RGD:Rat Genome Database submission]	Show Allelic Composition: Grin1^tm1Stl/Grin1⁺,Nf1^tm1Tyj/Nf1⁺ Genetic Background: involves: 129S2/SvPas * C57BL/6J Allelic Composition: Dst^dt-23J/Dst^dt-23J Genetic Background: Not Specified Allelic Composition: Dst^dt-24J/Dst^dt-24J Genetic Background: involves: C57BL/6 Allelic Composition: Dst^dt/Dst^dt Genetic Background: Q-Dst^dt
MP:0003280	urinary incontinence	"inability to control the urinary excretory functions" [ncbi:Matthew Mailman, NCBI request]	Show Allelic Composition: Dst^dt-32J/Dst^dt-32J Genetic Background: involves: 129S/Sv * 129S2/SvPas
MP:0003281	fecal incontinence	"inability to control the anal sphincter resulting in the involuntary passage of feces" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, ncbi:Matthew Mailman, NCBI request]	Show Allelic Composition: Dst^dt-32J/Dst^dt-32J Genetic Background: involves: 129S/Sv * 129S2/SvPas
MP:0003632	abnormal nervous system morphology		Show Allelic Composition: Dst^dt-alb/Dst^dt-alb Genetic Background: BALB/cByJ-Dst^dt-alb Allelic Composition: Dst^dt/Dst^dt Genetic Background: Q-Dst^dt
MP:0003633	abnormal nervous system physiology		Show Allelic Composition: Aqp2^F204V/Aqp2^F204V Genetic Background: C57BL/6-Aqp2^F204V Allelic Composition: Dst^dt-27J/Dst^dt-27J Genetic Background: B10.PL/(73NS)Sn-Dst^dt-27J/J
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: Aqp2^F204V/Aqp2^F204V Genetic Background: C57BL/6-Aqp2^F204V Allelic Composition: Dst^dt-27J/Dst^dt-27J Genetic Background: B10.PL/(73NS)Sn-Dst^dt-27J/J Allelic Composition: Dst^tm1Efu/Dst^tm1Efu Genetic Background: involves: C57BL/6
MP:0003994	abnormal dorsal spinal root morphology	"any anomaly, deformity, or malformation of the posterior bundle of nerves emerging from the spinal cord to join with the anterior/ventral nerve bundle at each spinal cord segment to form one of the 31 paired peripheral nerves" [brs:Beverly Richards-Smith, Mouse Genome Informatics Curator]	Show Allelic Composition: Aqp2^F204V/Aqp2^F204V Genetic Background: C57BL/6-Aqp2^F204V Allelic Composition: Dst^dt-27J/Dst^dt-27J Genetic Background: B10.PL/(73NS)Sn-Dst^dt-27J/J
MP:0004069	abnormal muscle spindle morphology	"anomalous structure of the sensory organs in muscle that are involved in the stretch reflex" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]	Show Allelic Composition: Dst^Tg4/Dst^Tg4 Genetic Background: involves: C57BL/6 * CD-1
MP:0004091	abnormal Z lines	"any structural abnormality in the cross-striation bisecting the I band of striated muscle myofibrils and serving as the anchoring point of actin filaments at either end of the sarcomere" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]	Show Allelic Composition: Aqp2^F204V/Aqp2^F204V Genetic Background: C57BL/6-Aqp2^F204V
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: Dst^{Gt(E182H05)Wrst}/Dst^{Gt(E182H05)Wrst} Genetic Background: B6NCrj.129P2-Dst^{Gt(E182H05)Wrst}
MP:0004768	abnormal axonal transport	"any functional anomaly of the directed movement of organelles or vesicles along microtubules in nerve cell axons" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Dst^dt-27J/Dst^dt-27J Genetic Background: B10.PL/(73NS)Sn-Dst^dt-27J/J
MP:0004811	abnormal neuron physiology	"anomalous function of the cells of the nervous system that receive, conduct, and transmit impulses" [MESH:National Library of Medicine_Medical Subject Headings]	Show Allelic Composition: Dst^{Gt(E182H05)Wrst}/Dst^{Gt(E182H05)Wrst} Genetic Background: B6NCrj.129P2-Dst^{Gt(E182H05)Wrst}
MP:0005150	cachexia	"general weight loss and wasting occurring in the course of chronic disease" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Dst^dt-39J/Dst^dt-39J Genetic Background: involves: NOD
MP:0005191	head tilt	"condition in which the portion of the body containing the brain and organs of sight, hearing, taste, and smell lists to the side" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Dst^m1Btlr/Dst^m1Btlr Genetic Background: C57BL/6J-Dst^m1Btlr
MP:0005316	abnormal response to tactile stimuli	"anomalous reflex action normally induced by touch or pain" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Dst^dt-J/Dst^dt-J Genetic Background: B6C3Fe a/a-Dst^dt-J/J
MP:0005323	dystonia	"impairment of muscle tone resulting in prolonged muscle contraction and involuntary movements such as repetitive movements, or twisting or writhing of the limbs" [J:84533]	Show Allelic Composition: Grin1^tm1Stl/Grin1⁺,Nf1^tm1Tyj/Nf1⁺ Genetic Background: involves: 129S2/SvPas * C57BL/6J Allelic Composition: Dst^tm1Efu/Dst^tm1Efu Genetic Background: involves: C57BL/6 Allelic Composition: Dst^dt-alb/Dst^dt-alb Genetic Background: BALB/cByJ-Dst^dt-alb Allelic Composition: Dst^dt/Dst^dt Genetic Background: Q-Dst^dt Allelic Composition: Dst^dt/Dst^dt Genetic Background: involves: Q Allelic Composition: Dst^dt-30J/Dst^dt-30J Genetic Background: C57BL/6J-Dst^dt-30J/J Allelic Composition: Dst^dt-31J/Dst^dt-31J Genetic Background: DBA/1LacJ Allelic Composition: Dst^dt-39J/Dst^dt-39J Genetic Background: involves: NOD Allelic Composition: Dst^{Gt(E182H05)Wrst}/Dst^{Gt(E182H05)Wrst} Genetic Background: B6NCrj.129P2-Dst^{Gt(E182H05)Wrst}
MP:0005356	positive geotaxis	"mice, when placed on a downward on a slanting grid, walk down without turning around, or exhibit a delay in turning around, whereas wild type mice will always turn around and walk upward" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:79604]	Show Allelic Composition: Dst^dt-J/Dst^dt-J Genetic Background: B6C3Fe a/a-Dst^dt-J/J
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: Aqp2^F204V/Aqp2^F204V Genetic Background: C57BL/6-Aqp2^F204V Allelic Composition: Dst^dt-27J/Dst^dt-27J Genetic Background: B10.PL/(73NS)Sn-Dst^dt-27J/J Allelic Composition: Dst^dt-27J/Dst⁺ Genetic Background: B10.PL/(73NS)Sn-Dst^dt-27J/J Allelic Composition: Dst^Tg4/Dst⁺ Genetic Background: involves: CD-1 Allelic Composition: Dst^Tg4/Dst^Tg4 Genetic Background: involves: C57BL/6 * CD-1
MP:0005405	axon degeneration	"retrogressive pathologic change in the single process of a nerve cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Dst^dt-27J/Dst^dt-27J Genetic Background: B10.PL/(73NS)Sn-Dst^dt-27J/J Allelic Composition: Dst^tm1Efu/Dst^tm1Efu Genetic Background: involves: C57BL/6 Allelic Composition: Dst^Tg4/Dst^Tg4 Genetic Background: involves: C57BL/6 * CD-1 Allelic Composition: Dst^{Gt(E182H05)Wrst}/Dst^{Gt(E182H05)Wrst} Genetic Background: B6NCrj.129P2-Dst^{Gt(E182H05)Wrst}
MP:0005656	decreased aggression	"when compared to controls, subjects exhibit less than the normal level of domineering, assaultive posture and/or hostile physical action" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith, Mouse Genome Informatics curator]	Show Allelic Composition: Dst^dt-J/Dst^dt-J Genetic Background: B6C3Fe a/a-Dst^dt-J/J
MP:0006035	abnormal mitochondrial morphology	"anomalous structure of the mitochondria" [smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Aqp2^F204V/Aqp2^F204V Genetic Background: C57BL/6-Aqp2^F204V
MP:0006198	enophthalmos	"sinking or retraction of the eye back into the socket" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Dst^dt-J/Dst^dt-J Genetic Background: B6C3Fe a/a-Dst^dt-J/J
MP:0006258	abnormal circumvallate papillae	"malformation, absence, or atypical size or shape of the large papillae, which have multiple taste buds in the trough surrounding the papillae, located near the base and on the dorsal side of the tongue" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:55127]	Show Allelic Composition: Aqp2^F204V/Aqp2^F204V Genetic Background: C57BL/6-Aqp2^F204V
MP:0008489	postnatal slow weight gain	"the weight gain over a span of postnatal developmental time is slower than controls, with or without ever attaining a similar weight to controls as adults" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Dst^Tg4/Dst^Tg4 Genetic Background: involves: C57BL/6 * CD-1
MP:0009400	decreased skeletal muscle fiber size	"decrease in the size of the large multinucleated cells that make up the skeletal muscles" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Grin1^tm1Stl/Grin1⁺,Nf1^tm1Tyj/Nf1⁺ Genetic Background: involves: 129S2/SvPas * C57BL/6J
MP:0011085	complete postnatal lethality	"premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]	Show Allelic Composition: Dsg3^tm1Stan/Dsg3^tm1Stan Genetic Background: involves: 129X1/SvJ * C57BL/6J Allelic Composition: Dst^dt-J/Dst^dt-J Genetic Background: C3HeB/FeJ-Dst^dt-J
MP:0011100	complete preweaning lethality	"death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]	Show Allelic Composition: Dbn1^{tm1b(KOMP)Wtsi}/Dbn1⁺ Genetic Background: C57BL/6N-Dbn1^{tm1b(KOMP)Wtsi}/Bay
MP:0011731	decreased myelin sheath thickness	"decrease in the depth of the insulating envelope that surrounds nerve fibers or axons" [MGI:smb]	Show Allelic Composition: Dst^{Gt(E182H05)Wrst}/Dst^{Gt(E182H05)Wrst} Genetic Background: B6NCrj.129P2-Dst^{Gt(E182H05)Wrst}

Interacting proteins (from Reactome)

Interactor ID	Name	Interaction type
ENSMUSG00000025510	Cd151 / O35566 / CD151 antigen / P48509* / CD151 molecule (Raph blood group)*	/ complex / reaction
ENSMUSG00000022565	Plec / Q9QXS1 / plectin / Q15149*	/ complex
ENSMUSG00000024421	Lama3 / Q61789 / Mus musculus laminin, alpha 3 (Lama3), transcript variant 2, mRNA. / Q16787* / laminin subunit alpha 3*	/ reaction / complex
ENSMUSG00000027111	Itga6 / Q61739 / Integrin alpha-6 Integrin alpha-6 heavy chain Integrin alpha-6 light chain / P23229* / integrin subunit alpha 6*	/ reaction / complex
ENSMUSG00000020758	Itgb4 / A2A863 / Integrin beta-4 / P16144* / integrin subunit beta 4*	/ reaction / complex
ENSMUSG00000026479	Lamc2 / laminin subunit gamma 2 / Q13753*	/ complex / reaction
ENSMUSG00000026639	Lamb3 / Q61087 / Laminin subunit beta-3 / Q13751*	/ complex / reaction

0 s.

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