Manteia - Molecule gene

ENSMUSG00000021919

Mus musculus

Features

Gene ID:	ENSMUSG00000021919

Biological name :	Chat

Synonyms :	Chat / choline O-acetyltransferase

Possible biological names infered from orthology :	P28329

Species:	Mus musculus

Chr. number:	14
Strand:	-1
Band:	B
Gene start:	32408203
Gene end:	32465989

Corresponding Affymetrix probe sets:	10418817 (MoGene1.0st) 1440070_at (Mouse Genome 430 2.0 Array)

Cross references:	Ensembl peptide - ENSMUSP00000154480 Ensembl peptide - ENSMUSP00000070865 Ensembl peptide - ENSMUSP00000153721 Ensembl peptide - ENSMUSP00000153738 Ensembl peptide - ENSMUSP00000153837 Ensembl peptide - ENSMUSP00000153857 Ensembl peptide - ENSMUSP00000153964 NCBI entrez gene - 12647 See in Manteia. MGI - MGI:88392 RefSeq - NM_009891 RefSeq Peptide - NP_034021 swissprot - Q8BQV2 Ensembl - ENSMUSG00000021919

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

Ortholog prediction (from Ensembl)

Ortholog name	ID	Species
chata	ENSDARG00000015854	Danio rerio
CHAT	ENSGALG00000002289	Gallus gallus
CHAT	ENSG00000070748	Homo sapiens

Paralog prediction (from Ensembl)

Paralog name	ID	Similarity(%)
Crat / P47934 / carnitine acetyltransferase / P43155* / carnitine O-acetyltransferase*	ENSMUSG00000026853	40
Cpt1a / P97742 / Carnitine O-palmitoyltransferase 1, liver isoform / P50416* / carnitine palmitoyltransferase 1A*	ENSMUSG00000024900	29
Cpt1c / Q8BGD5 / Mus musculus carnitine palmitoyltransferase 1c (Cpt1c), transcript variant 3, mRNA. / Q8TCG5* / carnitine palmitoyltransferase 1C*	ENSMUSG00000007783	29
Cpt1b / Q924X2 / Carnitine O-palmitoyltransferase 1, muscle isoform / Q92523* / carnitine palmitoyltransferase 1B*	ENSMUSG00000078937	29
Crot / Q9DC50 / Peroxisomal carnitine O-octanoyltransferase / Q9UKG9* / carnitine O-octanoyltransferase*	ENSMUSG00000003623	27

Protein motifs (from Interpro)

Interpro ID	Name
IPR000542	Acyltransferase ChoActase/COT/CPT

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
molecular_function	GO:0016740	transferase activity	IEA
molecular_function	GO:0016746	transferase activity, transferring acyl groups	IEA

Pathways (from Reactome)

Pathway description

Synthesis of PC

Acetylcholine Neurotransmitter Release Cycle

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: Cdkn2d^tm1Maro/Cdkn2d^tm1Maro Genetic Background: involves: 129X1/SvJ * C57BL/6 Allelic Composition: Chat^tm1.1Jrs/Chat^tm1.1Jrs Genetic Background: Not Specified Allelic Composition: Chat/Slc18a3^tm1.1Vpra/Chat/Slc18a3^tm1.1Vpra Genetic Background: involves: 129S4/SvJae * C57BL/6J Allelic Composition: Chat^tm1Mlt/Chat^tm1Mlt,Tg(SLC18A3-cre)KMisa/0 Genetic Background: involves: 129 * C57BL/6
MP:0000231	hypertension	"sustained high blood pressure at a level that is likely to result in cardiovascular disease and/or other pathological states" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Mc4r^tm1Lowl/Mc4r^tm1Lowl,Chat^tm1(cre)Lowl/Chat⁺ Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac
MP:0000493	rectal prolapse	"downward movement and external appearance of the rectum through the anus" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, tc:Teresa Chu , Mouse Genome Informatics Curator]	Show Allelic Composition: Chat^tm1Mlt/Chat^tm1Mlt,Tg(SLC18A3-cre)KMisa/0 Genetic Background: involves: 129 * C57BL/6
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: Chat^tm1Mlt/Chat^tm1Mlt,Tg(SLC18A3-cre)KMisa/0 Genetic Background: involves: 129 * C57BL/6
MP:0000746	weakness	"state of being infirm or less strong than littermates" [J:45400]	Show Allelic Composition: Chat^tm1.1Jrs/Chat^tm1.1Jrs Genetic Background: Not Specified Allelic Composition: Chat^tm1Jrs/Chat^tm1Jrs,Tg(CAG-cre/Esr1)1Lbe/0 Genetic Background:* involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL
MP:0000747	muscle weakness	"loss of muscle strength" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]	Show Allelic Composition: Chat^tm1Mlt/Chat^tm1Mlt,Tg(SLC18A3-cre)KMisa/0 Genetic Background: involves: 129 * C57BL/6
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: Chat/Slc18a3^tm1.1Vpra/Chat/Slc18a3^tm1.1Vpra Genetic Background: involves: 129S4/SvJae * C57BL/6J
MP:0000761	thin diaphragm muscle	"reduced thickness of the diaphragm muscle" [MGI:CLS, J:60159]	Show Allelic Composition: Chat^tm1.1Jrs/Chat^tm1.1Jrs Genetic Background: Not Specified
MP:0000938	motor neuron degeneration	"retrogressive impairment of function or destruction of the cells that innervate an effector (muscle or glandular) tissue" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Sf3b1^tm1.1Mdf/Sf3b1⁺,Tet2^tm1.1Iaai/Tet2^tm1.1Iaai,Tg(Mx1-cre)1Cgn/? Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6 * CBA/J Allelic Composition: Chat^tm2(cre)Lowl/Chat⁺,Mapt^tm3(FUS)Neas/Mapt⁺ Genetic Background: B6.129-Mapt^tm3(FUS)Neas Chat^tm2(cre)Lowl
MP:0000940	abnormal motor neuron innervation	"misprojection or failure to bundle motor axons to an effector tissue" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159]	Show Allelic Composition: Rasgrf1^tm1Toc/Rasgrf1^tm1Toc Genetic Background: involves: 129/Sv Allelic Composition: Chat/Slc18a3^tm1.1Vpra/Chat/Slc18a3^tm1.1Vpra Genetic Background: involves: 129S4/SvJae * C57BL/6J
MP:0001052	abnormal muscle innervation	"malfomation or misprojection of sensory or motor nerves to targets in muscle" [J:75958]	Show Allelic Composition: Chat^tm1.1Jrs/Chat^tm1.1Jrs Genetic Background: Not Specified Allelic Composition: Chat^tm1Jrs/Chat^tm1Jrs,Tg(CAG-cre/Esr1)1Lbe/0 Genetic Background:* involves: 129S1/Sv * 129X1/SvJ * C57BL/6
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: Cdkn2d^tm1Maro/Cdkn2d^tm1Maro Genetic Background: involves: 129X1/SvJ * C57BL/6 Allelic Composition: Chat^tm1.1Jrs/Chat^tm1.1Jrs Genetic Background: Not Specified Allelic Composition: Chat^tm1Jrs/Chat^tm1Jrs,Tg(CAG-cre/Esr1)1Lbe/0 Genetic Background:* involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL Allelic Composition: Aplp2^tm1Dbo/Aplp2^tm1Dbo,App^tm1.1Zhe/App^tm1.1Zhe,Chat^tm2(cre)Lowl/Chat⁺ Genetic Background: involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6J Allelic Composition: Chat/Slc18a3^tm1.1Vpra/Chat/Slc18a3^tm1.1Vpra Genetic Background: involves: 129S4/SvJae * C57BL/6J Allelic Composition: Chat^tm2(cre)Lowl/Chat⁺,Mapt^tm2(FUS)Neas/Mapt⁺ Genetic Background: B6.129-Mapt^tm2(FUS)Neas Chat^tm2(cre)Lowl Allelic Composition: Chat^tm2(cre)Lowl/Chat⁺,Mapt^tm3(FUS)Neas/Mapt⁺ Genetic Background: B6.129-Mapt^tm3(FUS)Neas Chat^tm2(cre)Lowl
MP:0001078	abnormal phrenic nerve	"malformed or misprojection of motor and sensory neuron axons to the diaphragm and other tissues" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159]	Show Allelic Composition: Chat^tm1.1Jrs/Chat^tm1.1Jrs Genetic Background: Not Specified
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: Chat^tm1.1Jrs/Chat^tm1.1Jrs Genetic Background: Not Specified
MP:0001262	decreased body weight	"lower than normal average weight " [J:61295]	Show Allelic Composition: Chat^tm1Mlt/Chat^tm1Mlt,Tg(SLC18A3-cre)KMisa/0 Genetic Background: involves: 129 * C57BL/6
MP:0001314	corneal opacity	"complete or partial clouding of the cornea" [jte:Janan T. Eppig , Mouse Genome Informatics, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Chat^tm1Mlt/Chat^tm1Mlt,Tg(SLC18A3-cre)KMisa/0 Genetic Background: involves: 129 * C57BL/6
MP:0001399	hyperactivity	"general restlessness or excessive movement; more frequent movement from one place to another" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409, J:57125]	Show Allelic Composition: Ppp2r5d^tm1Vjan/Ppp2r5d^tm1Vjan,Tg(Thy1-MAPT)5Vln/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N Allelic Composition: Chat/Slc18a3^tm1Vpra/Chat/Slc18a3^tm1.1Vpra Genetic Background: involves: 129S4/SvJae * C57BL/6J
MP:0001402	hypoactivity	"reduced movement from one place to another" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:64289]	Show Allelic Composition: Chat^tm1Mlt/Chat^tm1Mlt,Tg(SLC18A3-cre)KMisa/0 Genetic Background: involves: 129 * C57BL/6
MP:0001406	abnormal gait	"unusual or distinctive way of walking" [J:65038]	Show Allelic Composition: Chat^tm1Mlt/Chat^tm1Mlt,Tg(SLC18A3-cre)KMisa/0 Genetic Background: involves: 129 * C57BL/6
MP:0001575	cyanosis	"a dark bluish or purple skin discoloration resulting from deficient oxygenation of the blood" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60159]	Show Allelic Composition: Chat/Slc18a3^tm1.1Vpra/Chat/Slc18a3^tm1.1Vpra Genetic Background: involves: 129S4/SvJae * C57BL/6J
MP:0001943	abnormal respiration	"anomaly in the movement of gases into and out of the lung " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Mecp2^tm1Jae/Y,Chat^tm2(cre)Lowl/Chat⁺ Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6 * C57BL/6J
MP:0001951	abnormal breathing	"irregular or atypical breathing pattern " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:17489]	Show Allelic Composition: Chat^tm2(cre)Lowl/Chat⁺,Cpeb2^tm1.1Yshu/Cpeb2^tm1.1Yshu Genetic Background: involves: C57BL/6 * C57BL/6J * C57BL/6NJ * SJL/J
MP:0001952	increased airway responsiveness	"more easily provoked into bronchoconstriction in bronchial provocation tests" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Chat^tm2(cre)Lowl/Chat⁺,Cpeb2^tm1.1Yshu/Cpeb2^tm1.1Yshu Genetic Background: involves: C57BL/6 * C57BL/6J * C57BL/6NJ * SJL/J
MP:0001957	apnea	"absence of breathing; sometimes episodic" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:17384]	Show Allelic Composition: Chat^tm2(cre)Lowl/Chat⁺,Cpeb2^tm1.1Yshu/Cpeb2^tm1.1Yshu Genetic Background: involves: C57BL/6 * C57BL/6J * C57BL/6NJ * SJL/J Allelic Composition: Chat^tm2(cre)Lowl/Chat⁺,Mecp2^tm2Bird/Y Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6J
MP:0002079	increased circulating insulin level	"greater than normal levels of insulin in blood" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Mc4r^tm1Lowl/Mc4r^tm1Lowl,Chat^tm1(cre)Lowl/Chat⁺ Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac
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: Chat^tm1Mlt/Chat^tm1Mlt,Tg(SLC18A3-cre)KMisa/0 Genetic Background: involves: 129 * C57BL/6 Allelic Composition: Mecp2^tm1Jae/Y,Chat^tm2(cre)Lowl/Chat⁺ Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6 * C57BL/6J
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: Card11^tm1Pngr/Card11^tm1Pngr Genetic Background: involves: 129P2/OlaHsd Allelic Composition: Chat^tm1Mlt/Chat^tm1Mlt,Tg(SLC18A3-cre)KMisa/0 Genetic Background: involves: 129 * C57BL/6
MP:0002111	abnormal tail morphology	"abnormal development of the tail resulting in structural abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Ptbp1^tm1Nobu/Ptbp1^tm2Nobu,Tg(Nes-cre)1Sasa/0 Genetic Background: involves: 129P2/OlaHsd
MP:0002169	no phenotype detected	"normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Lepr^db/Lepr^db Genetic Background: B6.Cg-Dock7^m +/+ Lepr^db/J Allelic Composition: Chat^{tm1(cre/ERT)Nat}/Chat^{tm1(cre/ERT)Nat} Genetic Background: involves: 129 * C57BL/6
MP:0002184	abnormal innervation	"the malformation, misprojection or malfunction of the connection of nerve fibers with a target" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Cdkn2d^tm1Maro/Cdkn2d^tm1Maro Genetic Background: involves: 129X1/SvJ * C57BL/6
MP:0002204	abnormal neurotransmitter physiology	"aberrant function or production of endogenous signaling molecules secreted by neurons that alter the behavior of neurons or effector cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Chat/Slc18a3^tm1.1Vpra/Chat/Slc18a3^tm1.1Vpra Genetic Background: involves: 129S4/SvJae * C57BL/6J Allelic Composition: Chat/Slc18a3^tm1.1Vpra/Chat⁺ Genetic Background: involves: 129S4/SvJae * C57BL/6J Allelic Composition: Chat^tm2(cre)Lowl/Chat⁺,Cpeb2^tm1.1Yshu/Cpeb2^tm1.1Yshu Genetic Background: involves: C57BL/6 * C57BL/6J * C57BL/6NJ * SJL/J
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: Chat^tm1Mlt/Chat^tm1Mlt,Tg(SLC18A3-cre)KMisa/0 Genetic Background: involves: 129 * C57BL/6
MP:0002272	abnormal nervous system electrophysiology	"anomaly in the function of the nervous system as it relates to electrical phenomena" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Gt(ROSA)26Sor^{tm1.1(CAG-EGFP/Rpl10a,-birA)Wtp}/Gt(ROSA)26Sor^{tm1.1(CAG-EGFP/Rpl10a,-birA)Wtp} Genetic Background: involves: 129S4/SvJae * C57BL/6J
MP:0002337	abnormal whole-body plethysmography	"anomaly in the measurements gathered in a chamber that encloses the body and in which changes in volume are recorded" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Cpeb2^tm1.1Yshu/Cpeb2^tm1.1Yshu,Tg(Nes-cre)1Kln/0 Genetic Background: involves: C57BL/6 * C57BL/6J * SJL/J
MP:0002574	increased vertical activity	"greater than average time spent jumping or rearing " [J:72576, cwg:Carroll W. Goldsmith , Mouse Genome Informatics Curator]	Show Allelic Composition: Chat/Slc18a3^tm1Vpra/Chat/Slc18a3^tm1.1Vpra Genetic Background: involves: 129S4/SvJae * C57BL/6J
MP:0002757	reduced vertical activity	"lesser than average time spent jumping or rearing" [J:82829, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]	Show Allelic Composition: Chat^tm1Mlt/Chat^tm1Mlt,Tg(SLC18A3-cre)KMisa/0 Genetic Background: involves: 129 * C57BL/6
MP:0002913	abnormal PNS synaptic transmission	"defect in the communication from a neuron to a target across a synapse in the peripheral nervous system" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Cdkn2d^tm1Maro/Cdkn2d^tm1Maro Genetic Background: involves: 129X1/SvJ * C57BL/6
MP:0002945	abnormal inhibitory postsynaptic currents	"defect in the size or duration of currents detected in postsynaptic cells when an inhibitory impulse arrives at the synapse causing hyperpolarization" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]	Show Allelic Composition: Chat^tm2(cre)Lowl/Chat⁺,Gt(ROSA)26Sor^{tm9(CAG-tdTomato)Hze}/Gt(ROSA)26Sor⁺,Sema6a^{Gt(KST069)Byg}/Sema6a^{Gt(KST069)Byg} Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6NCr
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: Chat^tm1Mlt/Chat^tm1Mlt,Tg(SLC18A3-cre)KMisa/0 Genetic Background: involves: 129 * C57BL/6
MP:0003082	abnormal gastrocnemius morphology	"anomaly in the the two-headed large muscle of the posterior portion of the lower hindleg, the most superficial of the calf muscles" [smb:Susan M. Bello, Mouse Genome Informatics Curator, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Chat^tm1Mlt/Chat^tm1Mlt,Tg(SLC18A3-cre)KMisa/0 Genetic Background: involves: 129 * C57BL/6
MP:0003233	prolonged QT interval	"increase in the length of time required for ventricular depolarization and repolarization to occur, usually as a result of increased repolarization time" [J:93197, smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Mecp2^tm1Jae/Y,Chat^tm2(cre)Lowl/Chat⁺ Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6 * C57BL/6J
MP:0003734	abnormal inner plexiform layer morphology	"malformation/anomalous structure of the retinal cell layer where bipolar and amacrine cell axons synapse with ganglion cell dendrites " [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]	Show Allelic Composition: Gt(ROSA)26Sor^{tm407(H1/tetO-RNAi:Large)Arte}/Gt(ROSA)26Sor⁺ Genetic Background: B6.Cg-Gt(ROSA)26Sor^{tm407(H1/tetO-RNAi:Large)Arte}
MP:0003924	herniated diaphragm	"protrusion of abdominal contents into the thoracic cavity through the diaphragm" [smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Chat^tm1.1Jrs/Chat^tm1.1Jrs Genetic Background: Not Specified
MP:0003928	increased heart rate variability	"increased variation of beat-to-beat intervals of the heart, usually indicitive of a healthy heart" [RGD:Rat Genome Database submission]	Show Allelic Composition: Mecp2^tm1Jae/Y,Chat^tm2(cre)Lowl/Chat⁺ Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6 * C57BL/6J
MP:0004085	abnormal heartbeat	"anomaly in the appearance of regularly spaced contractions of the heart" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Mecp2^tm1Jae/Y,Chat^tm2(cre)Lowl/Chat⁺ Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6 * C57BL/6J
MP:0004144	hypotonia	"decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness" [hdene:Howard Dene , Mouse Genome Informatics Curator]	Show Allelic Composition: Chat/Slc18a3^tm1.1Vpra/Chat/Slc18a3^tm1.1Vpra Genetic Background: involves: 129S4/SvJae * C57BL/6J
MP:0004200	reduced fetal size	"smaller proportions of a fetus compared to littermates (sensu Mus: from E14 through birth)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Cdkn2d^tm1Maro/Cdkn2d^tm1Maro Genetic Background: involves: 129X1/SvJ * C57BL/6
MP:0004485	increased response of heart to induced stress	"increase in severity of the physiological response of the heart to induced stress such as cardiac hypertrophy due to mechanical pressure overload from aortic banding" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Mecp2^tm1Jae/Y,Chat^tm2(cre)Lowl/Chat⁺ Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6 * C57BL/6J
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: Chat/Slc18a3^tm1.1Vpra/Chat/Slc18a3^tm1.1Vpra Genetic Background: involves: 129S4/SvJae * C57BL/6J Allelic Composition: Chat/Slc18a3^tm1.1Vpra/Chat⁺ Genetic Background: involves: 129S4/SvJae * C57BL/6J Allelic Composition: Chat/Slc18a3^tm1Vpra/Chat/Slc18a3^tm1Vpra Genetic Background: involves: 129S4/SvJae * C57BL/6J Allelic Composition: Chat/Slc18a3^tm1Vpra/Chat/Slc18a3^tm1.1Vpra Genetic Background: involves: 129S4/SvJae * C57BL/6J
MP:0004836	abnormal synaptic acetylcholine release	"aberrant secretion across synapses of the excitatory neurotransmitter found at neuromuscular junctions, autonomic ganglia, parasympathetic effector junctions, a subset of sympathetic effector junctions, and at many sites in the central nervous system" [MESH:National Library of Medicine_Medical Subject Headings]	Show Allelic Composition: Chat/Slc18a3^tm1.1Vpra/Chat/Slc18a3^tm1.1Vpra Genetic Background: involves: 129S4/SvJae * C57BL/6J
MP:0005162	carpoptosis	"paralysis of the extensors of the wrist and fingers; most often caused by a lesion of the radial nerve" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:81738]	Show Allelic Composition: Cdkn2d^tm1Maro/Cdkn2d^tm1Maro Genetic Background: involves: 129X1/SvJ * C57BL/6 Allelic Composition: Chat^tm1.1Jrs/Chat^tm1.1Jrs Genetic Background: Not Specified
MP:0005192	increased motor neuron number	"greater than the normal number of cells that innervate an effector (muscle or glandular) tissue" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]	Show Allelic Composition: Cdkn2d^tm1Maro/Cdkn2d^tm1Maro Genetic Background: involves: 129X1/SvJ * C57BL/6 Allelic Composition: Chat^tm1.1Jrs/Chat^tm1.1Jrs Genetic Background: Not Specified Allelic Composition: Chat/Slc18a3^tm1.1Vpra/Chat/Slc18a3^tm1.1Vpra Genetic Background: involves: 129S4/SvJae * C57BL/6J Allelic Composition: Chat^tm1Fhg/Chat^tm1Fhg Genetic Background: involves: 129S4/SvJae
MP:0005240	abnormal amacrine cell morphology	"anomalous structure of the interneurons of the retina" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Gt(ROSA)26Sor^{tm407(H1/tetO-RNAi:Large)Arte}/Gt(ROSA)26Sor⁺ Genetic Background: B6.Cg-Gt(ROSA)26Sor^{tm407(H1/tetO-RNAi:Large)Arte}
MP:0005333	decreased heart rate	"fewer than average resting heart beats per minute" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:84764]	Show Allelic Composition: Mecp2^tm1Jae/Y,Chat^tm2(cre)Lowl/Chat⁺ Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6 * C57BL/6J
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: Chat^tm1Jrs/Chat^tm1Jrs,Tg(CAG-cre/Esr1)1Lbe/0 Genetic Background:* involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL
MP:0005507	tail dragging	"pulling the tail along with difficulty or effort; may be due to paralysis or weakness" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Chat^tm1Mlt/Chat^tm1Mlt,Tg(SLC18A3-cre)KMisa/0 Genetic Background: involves: 129 * C57BL/6
MP:0005534	decreased body temperature	"less than the level of heat natural to a living being" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Mecp2^tm1Jae/Y,Chat^tm2(cre)Lowl/Chat⁺ Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6 * C57BL/6J
MP:0005574	decreased breathing frequency	"fewer than the normal number of breaths in a given period of time" [RGD:Rat Genome Database submission]	Show Allelic Composition: Chat^tm2(cre)Lowl/Chat⁺,Cpeb2^tm1.1Yshu/Cpeb2^tm1.1Yshu Genetic Background: involves: C57BL/6 * C57BL/6J * C57BL/6NJ * SJL/J
MP:0008143	abnormal dendrite morphology	"any structural anomaly of the highly branched tree-like process of a neuron that serves as a receptive field and conducts impulses toward the cell body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", MGI:rbabiuk "Randall Babiuk, Mouse Genome Informatics Curator"]	Show Allelic Composition: Gt(ROSA)26Sor^{tm407(H1/tetO-RNAi:Large)Arte}/Gt(ROSA)26Sor⁺ Genetic Background: B6.Cg-Gt(ROSA)26Sor^{tm407(H1/tetO-RNAi:Large)Arte}
MP:0008950	ventricular tachycardia	"paroxysmal rapid beating of the heart originating in an ectopic focus in the heart ventricle" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Mecp2^tm1Jae/Y,Chat^tm2(cre)Lowl/Chat⁺ Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6 * C57BL/6J
MP:0009413	skeletal muscle fiber atrophy	"a wasting of skeletal muscle fibers resulting in a derangement of the skeletal muscle fibers; occurs with age, immobilization, weightlessness, malnutrition or denervation" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Chat/Slc18a3^tm1.1Vpra/Chat/Slc18a3^tm1.1Vpra Genetic Background: involves: 129S4/SvJae * C57BL/6J
MP:0009417	skeletal muscle atrophy	"a wasting of skeletal muscle tissue resulting in a derangement of the muscle fibers; occurs with age, immobilization, weightlessness, malnutrition or denervation" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Chat/Slc18a3^tm1.1Vpra/Chat/Slc18a3^tm1.1Vpra Genetic Background: involves: 129S4/SvJae * C57BL/6J
MP:0009419	skeletal muscle fibrosis	"formation of fibrous tissue within skeletal muscle as a result of repair or a reactive process" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Chat^tm1Mlt/Chat^tm1Mlt,Tg(SLC18A3-cre)KMisa/0 Genetic Background: involves: 129 * C57BL/6
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: Chat^tm1Mlt/Chat^tm1Mlt,Tg(SLC18A3-cre)KMisa/0 Genetic Background: involves: 129 * C57BL/6
MP:0009732	ventricular premature beat	"a heartbeat is initiated by abnormal electrical activation originating in the heart ventricles rather than by the sinoatrial node, the normal heartbeat initiator, before a normal heartbeat would occur" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Mecp2^tm1Jae/Y,Chat^tm2(cre)Lowl/Chat⁺ Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6 * 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: Chat^tm1Jrs/Chat^tm1Jrs,Tg(CAG-cre/Esr1)1Lbe/0 Genetic Background:* involves: 129S1/Sv * 129X1/SvJ * C57BL/6 Allelic Composition: Chat^tm1Jrs/Chat^tm1Jrs,Tg(CAG-cre/Esr1)1Lbe/0 Genetic Background:* involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL
MP:0011087	complete neonatal lethality	"death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]	Show Allelic Composition: Chat^tm1.1Jrs/Chat^tm1.1Jrs Genetic Background: Not Specified Allelic Composition: Chat/Slc18a3^tm1.1Vpra/Chat/Slc18a3^tm1.1Vpra Genetic Background: involves: 129S4/SvJae * C57BL/6J
MP:0011089	complete perinatal lethality	"death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]	Show Allelic Composition: Cdkn2d^tm1Maro/Cdkn2d^tm1Maro Genetic Background: involves: 129X1/SvJ * C57BL/6
MP:0011620	abnormal habituation to a new environment	"anomaly in the process in which there is a progressive decline of behavioral response probability with an exposure to a new environment" [MGI:csmith]	Show Allelic Composition: Chat^tm1Mlt/Chat^tm1Mlt,Tg(SLC18A3-cre)KMisa/0 Genetic Background: involves: 129 * C57BL/6
MP:0012593	increased brain choline acetyltransferase activity	"greater ability of the brain to catalyze the reaction: acetyl-CoA + choline = acetylcholine + CoA" [GO:0004102, http://orcid.org/0000-0001-5208-3432]	Show Allelic Composition: Chat^tm2(cre)Lowl/Chat⁺,Cpeb2^tm1.1Yshu/Cpeb2^tm1.1Yshu Genetic Background: involves: C57BL/6 * C57BL/6J * C57BL/6NJ * SJL/J

Interacting proteins (from Reactome)

Interactor ID

Name

Interaction type

No match

0 s.

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