ENSMUSG00000002496


Mus musculus

Features
Gene ID: ENSMUSG00000002496
  
Biological name :Tsc2
  
Synonyms : Tsc2 / tuberous sclerosis 2
  
Possible biological names infered from orthology : P49815 / TSC complex subunit 2
  
Species: Mus musculus
  
Chr. number: 17
Strand: -1
Band: A3.3
Gene start: 24595816
Gene end: 24632630
  
Corresponding Affymetrix probe sets: 10448631 (MoGene1.0st)   1452105_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000094986
Ensembl peptide - ENSMUSP00000153758
Ensembl peptide - ENSMUSP00000153770
Ensembl peptide - ENSMUSP00000153792
Ensembl peptide - ENSMUSP00000153864
Ensembl peptide - ENSMUSP00000153869
Ensembl peptide - ENSMUSP00000154338
Ensembl peptide - ENSMUSP00000154493
Ensembl peptide - ENSMUSP00000154706
NCBI entrez gene - 22084     See in Manteia.
MGI - MGI:102548
RefSeq - XM_017317393
RefSeq - NM_001039363
RefSeq - NM_001286713
RefSeq - NM_001286714
RefSeq - NM_001286716
RefSeq - NM_001286718
RefSeq - NM_001286720
RefSeq - NM_011647
RefSeq - XM_006524044
RefSeq - XM_017317384
RefSeq - XM_017317385
RefSeq - XM_017317386
RefSeq - XM_017317387
RefSeq - XM_017317388
RefSeq - XM_017317389
RefSeq - XM_017317390
RefSeq - XM_017317391
RefSeq - XM_017317392
RefSeq - XM_006524040
RefSeq Peptide - NP_001034452
RefSeq Peptide - NP_001273643
RefSeq Peptide - NP_001273645
RefSeq Peptide - NP_001273647
RefSeq Peptide - NP_001273649
RefSeq Peptide - NP_035777
RefSeq Peptide - NP_001273642
swissprot - Q3UHB2
swissprot - Q7TT21
swissprot - Q3TQ10
Ensembl - ENSMUSG00000002496
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 TSC2ENSGALG00000005646Gallus gallus
 TSC2ENSG00000103197Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
A3KGS3 / Ralgapa2 / Ral GTPase-activating protein subunit alpha-2 / Q2PPJ7* / Ral GTPase activating protein catalytic alpha subunit 2*ENSMUSG0000003711017
Q6GYP7 / Ralgapa1 / Ral GTPase activating protein, alpha subunit 1 / Q6GYQ0* / Ral GTPase activating protein catalytic alpha subunit 1*ENSMUSG0000002102717
Q80TE4 / Sipa1l2 / Mus musculus signal-induced proliferation-associated 1 like 2 (Sipa1l2), transcript variant 2, mRNA. / Q9P2F8* / signal induced proliferation associated 1 like 2*ENSMUSG000000019959
Q8C0T5 / Sipa1l1 / Signal-induced proliferation-associated 1-like protein 1 / O43166* / signal induced proliferation associated 1 like 1*ENSMUSG000000427009
G3X9J0 / Sipa1l3 / signal-induced proliferation-associated 1 like 3 / O60292*ENSMUSG000000305839
Sipa1 / signal-induced proliferation-associated 1 / Q96FS4*ENSMUSG000000569176
Garnl3 / Q3V0G7 / Mus musculus GTPase activating RANGAP domain-like 3 (Garnl3), transcript variant 2, mRNA. / Q5VVW2* / GTPase activating Rap/RanGAP domain like 3*ENSMUSG000000388606
Q5SVL6 / Rap1gap2 / Rap1 GTPase-activating protein 2 / Q684P5*ENSMUSG000000388075
A2ALS5 / Rap1gap / Mus musculus Rap1 GTPase-activating protein (Rap1gap), transcript variant 5, mRNA. / P47736* / RAP1 GTPase activating protein*ENSMUSG000000413514


Protein motifs (from Interpro)
Interpro ID Name
 IPR000331  Rap GTPase activating protein domain
 IPR003913  Tuberin
 IPR011989  Armadillo-like helical
 IPR016024  Armadillo-type fold
 IPR018515  Tuberin-type domain
 IPR024584  Tuberin, N-terminal
 IPR027107  Tuberin/Ral GTPase-activating protein subunit alpha
 IPR035974  Rap/Ran-GAP superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0016239 positive regulation of macroautophagy IEA
 biological_processGO:0032007 negative regulation of TOR signaling IEA
 biological_processGO:0043276 anoikis IEA
 biological_processGO:0043547 positive regulation of GTPase activity IEA
 biological_processGO:0051056 regulation of small GTPase mediated signal transduction IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0033596 TSC1-TSC2 complex IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 molecular_functionGO:0005096 GTPase activator activity IEA
 molecular_functionGO:0005488 binding IEA
 molecular_functionGO:0019902 phosphatase binding IEA
 molecular_functionGO:0031267 small GTPase binding IEA
 molecular_functionGO:0042803 protein homodimerization activity IEA


Pathways (from Reactome)
Pathway description
Macroautophagy
Inhibition of TSC complex formation by PKB
AKT phosphorylates targets in the cytosol
Energy dependent regulation of mTOR by LKB1-AMPK
TP53 Regulates Metabolic Genes
TBC/RABGAPs


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000189 hypoglycemia "low levels of plasma glucose in the circulating blood; this generally refers to a pathological state" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Tsc2tm1Kido/Tsc2tm1Kido
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0000259 abnormal vascular development "malformation or aberrant differentiation of the blood vessels" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:17509]
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Allelic Composition: Tsc2tm2.2Djk/Tsc2tm2.2Djk
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0000275 heart hyperplasia "increased cell number in the heart" [J:18048]
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Allelic Composition: Trp53tm1Tyj/Trp53+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0000600 liver hypoplasia "reduced size of liver due to decreased cell number " [J:57631]
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Allelic Composition: Trp53tm1Tyj/Trp53+
Genetic Background: involves: 129S2/SvPas * C57BL/6

Allelic Composition: Tsc2tm2.2Djk/Tsc2tm2.2Djk
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0000788 abnormal cerebral cortex morphology "malformed gray cellular mantle covering the surface of the brain" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:38857]
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Allelic Composition: Mpp5tm1Caw/Mpp5tm1Caw,Tsc2tm1.1Mjg/Tsc2tm1.1Mjg,Emx1tm1(cre)Krj/Emx1+
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

 MP:0000876 Purkinje cell degeneration "a retrogressive impairment of function or destruction of the large neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex" [J:46854]
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Allelic Composition: Tg(Pcp2-cre)2Mpin/0,Tsc2tm1.1Mjg/Tsc2tm1.2Mjg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Tg(Pcp2-cre)2Mpin/0,Tsc2tm1.1Mjg/Tsc2tm1.1Mjg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0000877 abnormal Purkinje cell "any structural anomaly of the neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex; these inhibitory neurons provide the output of the cerebellar cortex through axons that project into the white matter, and extensive dendritic trees from the Purkinje cells extend upward in a single plane into the molecular layer where they synapse with parallel fibers of granule cells" [J:46140, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Tg(Pcp2-cre)2Mpin/0,Tsc2tm1.1Mjg/Tsc2tm1.2Mjg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Tg(Pcp2-cre)2Mpin/0,Tsc2tm1.1Mjg/Tsc2tm1.1Mjg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0000928 incomplete cephalic closure "arrest of the fusion of the cephalic neural folds" [J:12622]
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Allelic Composition: Trp53tm1Tyj/Trp53+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0000929 open neural tube "incomplete invagination and fusion of the neuroepithelial layer in early development" [MGI:CLS, J:53370, J:62571]
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Allelic Composition: Tsc2tm1.2Mjg/Tsc2tm1.2Mjg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0001146 abnormal testis morphology "anomalous structure of the male reproductive glands" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Tsc2tm1.1Mjg/Tsc2tm1.1Mjg
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6

 MP:0001147 small testis "reduced size of the male reproductive glands" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:58959]
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Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Tsc2tm1.1Mjg/Tsc2tm1.1Mjg
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6

 MP:0001156 abnormal spermatogenesis "incomplete maturation or aberrant formation of the male gametes" [J:58959]
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Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Tsc2tm1.1Mjg/Tsc2tm1.1Mjg
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Tsc2tm1Kido/Tsc2tm1Kido
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Tsc2tm1.1Kcess/Tsc2tm1.1Kcess,Emx1tm1(cre)Krj/Emx1+
Genetic Background: involves: 129S/Sv * C57BL/6J

 MP:0001272 increased metastatic potential 
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Allelic Composition: Tsc2tm1.1Mjg/Tsc2tm1.1Mjg,Pgrtm2(cre)Lyd/Pgr+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001360 abnormal social investigation "altered behavior of animals to approach and examine other animals" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: GckM1Btlr/Gck+
Genetic Background: C57BL/6J-GckM1Btlr

Allelic Composition: Tsc2tm1Djk/Tsc2+
Genetic Background: involves: 129S4/SvJae * C57BL/6J

Allelic Composition: Tsc2tm1Djk/Tsc2+,Atg7tm1Tchi/Atg7tm1Tchi,Tg(Camk2a-cre)T29-1Stl/0
Genetic Background: involves: 129S4/SvJae * BALB/c * C57BL * C57BL/6 * CBA/JNCrlj

 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
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Allelic Composition: Tg(Pcp2-cre)2Mpin/0,Tsc2tm1.1Mjg/Tsc2tm1.2Mjg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 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]
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Allelic Composition: Tg(Pcp2-cre)2Mpin/0,Tsc2tm1.1Mjg/Tsc2tm1.2Mjg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
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Allelic Composition: Tg(Pcp2-cre)2Mpin/0,Tsc2tm1.1Mjg/Tsc2tm1.2Mjg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0001463 abnormal spatial learning "defects in the abilibity to navigate using behavioraly meaningful locations" [CFG:Center for Functional Genomics , Northwestern University]
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Allelic Composition: GckRgsc960/Gck+
Genetic Background: involves: C57BL/6JJcl * DBA/2JJcl

 MP:0001469 abnormal contextual conditioning "defect in the ability of an animal to learn and remember an association between an an aversive experience (the unconditioned stimulus (US), ususally a shock) and a neutral stimulus (the conditioned stimulus (CS), or the environmental context in this case)" [CFG:Center for Functional Genomics , Northwestern University]
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Allelic Composition: GckRgsc960/Gck+
Genetic Background: involves: C57BL/6JJcl * DBA/2JJcl

 MP:0001634 internal hemorrhage "blood loss in the interior of the body due to vessel rupture or dysmorphology " [J:23170]
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Allelic Composition: Tsc2tm2.2Djk/Tsc2tm2.2Djk
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Tsc2tm1.1Mjg/Tsc2tm1.1Mjg,Pgrtm2(cre)Lyd/Pgr+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
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Allelic Composition: Trp53tm1Tyj/Trp53+
Genetic Background: involves: 129S2/SvPas * C57BL/6

Allelic Composition: Tsc2tm1Mjg/Tsc2tm1Mjg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Tsc2tm1.1Kcess/Tsc2tm1.1Kcess,Emx1tm1(cre)Krj/Emx1+
Genetic Background: involves: 129S/Sv * C57BL/6J

 MP:0002020 increased tumor incidence "greater than average number of tumors, usually a specific type" [MGI:cls, J:34193]
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Allelic Composition: Trp53tm1Tyj/Trp53+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0002045 renal cystadenoma "benign cystic neoplasm of the kidney derived from glandular epithelium origin" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:57631]
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Allelic Composition: Trp53tm1Tyj/Trp53+
Genetic Background: involves: 129S2/SvPas * C57BL/6

Allelic Composition: Tsc2tm2.2Djk/Tsc2+
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0002047 hepatic hemangioma "neoplastic- like masses in the liver; often undergoes spontaneous regression" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:57631]
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Allelic Composition: Trp53tm1Tyj/Trp53+
Genetic Background: involves: 129S2/SvPas * C57BL/6

Allelic Composition: Tsc2tm1Tno/Tsc2+
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0002048 lung adenoma "benign epithelial neoplasm of the lung" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:57631]
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Allelic Composition: Trp53tm1Tyj/Trp53+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0002049 extremity angiosarcoma "malignant neoplasm of soft tissues; thought to arise from endothelial cells of blood vessels" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:57631]
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Allelic Composition: Trp53tm1Tyj/Trp53+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0002064 seizures "sudden and often acute manifestation of epileptic attack, sometimes convulsive" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Fbn1tm1Lper/Fbn1tm1Lper
Genetic Background: involves: 129/Sv * CD-1

Allelic Composition: Tg(Pcp2-cre)2Mpin/0,Tsc2tm1.1Mjg/Tsc2tm1.2Mjg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * 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]
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Allelic Composition: Tsc2tm1Kido/Tsc2tm1Kido
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Fbn1tm1Lper/Fbn1tm1Lper
Genetic Background: involves: 129/Sv * CD-1

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Tsc2tm1.2Mjg/Tsc2tm1.2Mjg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

Allelic Composition: Tsc2tm1Kido/Tsc2tm1Kido
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Tsc2tm2.1Djk/Tsc2tm2.1Djk
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Tsc2tm1.1Kcess/Tsc2tm1.1Kcess
Genetic Background: involves: 129S1/SvImJ * 129S4/SvJaeSor * 129S6/SvEvTac

 MP:0002176 high brain weight "greater than average weight of the brain" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Fbn1tm1Lper/Fbn1tm1Lper
Genetic Background: involves: 129/Sv * CD-1

 MP:0002216 abnormal seminiferous tubule morphology "malformation of the tubules in the testes where spermatogenesis occurs" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Tsc2tm1.1Mjg/Tsc2tm1.1Mjg
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6

 MP:0002574 increased vertical activity "greater than average time spent jumping or rearing " [J:72576, cwg:Carroll W. Goldsmith , Mouse Genome Informatics Curator]
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Allelic Composition: GckM1Btlr/Gck+
Genetic Background: C57BL/6J-GckM1Btlr

 MP:0002727 decreased circulating insulin level "less than normal levels of insulin in the blood" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, dlb:Donna Burkart , Mouse Genome Informatics Curator]
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Allelic Composition: Tsc2tm1Kido/Tsc2tm1Kido
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0002784 abnormal Sertoli cell morphology "malformation of the cells of the seminiferous tubules that create the blood-testes barrier and enable spermatogenesis" [J:65900, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Tsc2tm1.1Mjg/Tsc2tm1.1Mjg
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6

 MP:0002891 increased insulin sensitivity "greater ability to clear glucose from the bloodstream when given insulin than normal; can result in hypoglycemia" [RGD:Rat Genome Database submission]
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Allelic Composition: Tsc2tm1Kido/Tsc2tm1Kido
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0003008 enhanced long term potentiation "greater than the normal persistent robust synaptic response induced by synchronous stimulation of pre- and postsynaptic cells " [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3, J:81922]
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Allelic Composition: GckRgsc960/Gck+
Genetic Background: involves: C57BL/6JJcl * DBA/2JJcl

 MP:0003037 increased infarction size "increased size of necrotic area from normal of the myocardium resulting from a sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors" [MeSH:National Library of Medicine - Medical Subject Headings, 2003, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
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Allelic Composition: Khdrbs2Tg(LRRK2*R1441G)135Cjli/Khdrbs2+
Genetic Background: FVB/N-Khdrbs2Tg(LRRK2*R1441G)135Cjli/J

 MP:0003038 decreased infarction size "decreased size of necrotic area from normal of the myocardium resulting from a sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors" [MeSH:National Library of Medicine - Medical Subject Headings, 2003, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
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Allelic Composition: Khdrbs2Tg(LRRK2*R1441G)135Cjli/Khdrbs2+
Genetic Background: FVB/N-Khdrbs2Tg(LRRK2*R1441G)135Cjli/J

 MP:0003064 decreased coping response "reduced ability to respond productively to a stressful situation" [RGD:Rat Genome Database submission]
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Allelic Composition: GckM1Btlr/Gck+
Genetic Background: C57BL/6J-GckM1Btlr

 MP:0003339 decreased number of pancreatic beta cells "fewer than normal number of the cells of the pancreas that secrete insulin" [ncbi:Matthew Mailman, NCBI request, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Tsc2tm1Kido/Tsc2tm1Kido
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0003354 astrocytosis "a proliferation or spread of astrocytes in the area of a degenerative lesion or damaged tissue" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Fbn1tm1Lper/Fbn1tm1Lper
Genetic Background: involves: 129/Sv * CD-1

 MP:0003396 abnormal embryonic hematopoiesis "anomaly in the development of primarily large, nucleated erythroblasts as well as some megakaryocytes and primitive macrophages occuring in blood islands in the yolk sac, generally occurs from E7-E11 in the mouse and through 10 weeks in humans " [J:94136, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Tsc2tm2.2Djk/Tsc2tm2.2Djk
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0003461 abnormal response to novel object "altered investigative behavior from controls in reactions associated with exposing an animal to a novel object" [CFG:Center for Functional Genomics, Northwestern University]
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Allelic Composition: Tsc2tm1Djk/Tsc2+
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0003570 uterine leiomyoma "a benign tumor derived from the smooth muscle tissue of the uterus" [ncbi:Matthew Mailman, NCBI request, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Tsc2tm1.1Mjg/Tsc2tm1.1Mjg,Pgrtm2(cre)Lyd/Pgr+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0003675 kidney cysts "abnormal membranous sacs in any portion of the pair of organs responsible for urine secretion" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Tsc2tm1.2Mjg/Tsc2tm1.2Mjg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

Allelic Composition: Tsc2tm1Mjg/Tsc2+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0003717 pallor "an unnatural paleness to the skin, generally attributable to anemia" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Tsc2tm1Mjg/Tsc2tm1Mjg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0003974 abnormal endocardium morphology "malformation of the thin serous membrane, primarily composed of endothelial tissue, that lines the interior of the heart" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Trp53tm1Tyj/Trp53+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0003984 embryonic growth retardation "slow or limited development before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Trp53tm1Tyj/Trp53+
Genetic Background: involves: 129S2/SvPas * C57BL/6

Allelic Composition: Tsc2tm1.2Mjg/Tsc2tm1.2Mjg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

Allelic Composition: Tsc2tm2.2Djk/Tsc2tm2.2Djk
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0004852 decreased testis weight "reduced average weight of the male reproductive glands" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Tsc2tm1.1Mjg/Tsc2tm1.1Mjg
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6

 MP:0004901 decreased male germ cell number "reduced numbers of male germ cells whether they are undifferentiated or fully differentiated" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Tsc2tm1.1Mjg/Tsc2tm1.1Mjg
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6

 MP:0004904 increased uterus weight "increase in the weight of the female organ of gestation" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Tsc2tm1.1Mjg/Tsc2tm1.1Mjg,Pgrtm2(cre)Lyd/Pgr+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0004906 enlarged uterus 
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Allelic Composition: Tsc2tm1.1Mjg/Tsc2tm1.1Mjg,Pgrtm2(cre)Lyd/Pgr+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0004938 dilated vasculature "stretched or widened aperture of the luminal space of the network of tubes that carries blood through the body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Tsc2tm2.2Djk/Tsc2tm2.2Djk
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0005215 abnormal islet of Langerhans morphology "anomalous morphology of these structures that are scattered throughout the pancreas and comprise its endocrine portion; within each islet there are three cell types: alpha, beta, and delta " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Tsc2tm1Kido/Tsc2tm1Kido
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0005238 increased brain size "larger than the normal physical proportions of the brain" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:57958]
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Allelic Composition: Fbn1tm1Lper/Fbn1tm1Lper
Genetic Background: involves: 129/Sv * CD-1

 MP:0005292 improved glucose tolerance "better than the normal response to oral consumption or intravenous injection of specified amounts of glucose and indicative of insulin sensitivity; measured by determining whole blood or plasma sugar level in a fasting state before and after taking glucose at specified intervals" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Tsc2tm1Kido/Tsc2tm1Kido
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0005294 abnormal heart ventricle morphology "structural anomaly of one or both of the two lower chambers of the heart " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Trp53tm1Tyj/Trp53+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0005491 islet cell hyperplasia "increased numbers cells within the structures that are scattered throughout the pancreas and comprise its endocrine portion" [J:48446, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Tsc2tm1Kido/Tsc2tm1Kido
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0005559 increased circulating glucose level "greater than the normal concentration in the blood of this major monosaccharide of the body; it is an important energy source" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, RGD:Rat Genome Database submission]
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Allelic Composition: Tsc2tm1Kido/Tsc2tm1Kido
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0006042 increased apoptosis "greater than normal programmed cell death" [RGD:Rat Genome Database submission, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Tsc2tm2.2Djk/Tsc2tm2.2Djk
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0008014 lung tumor "presence of abnormal, rapidly proliferating cells on the lung usually in the form of a distinct mass" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Tsc2tm1.1Mjg/Tsc2tm1.1Mjg,Pgrtm2(cre)Lyd/Pgr+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 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"]
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Allelic Composition: Morc1Tg(Tyr)1Az/Morc1Tg(Tyr)1Az
Genetic Background: involves: C57BL/6N * FVB/N

Allelic Composition: Sdcbptm1c(KOMP)Wtsi/Sdcbp+,Tsc2tm1Tno/Tsc2+,Tg(Camk2a-cre)2Gsc/0
Genetic Background: involves: 129S4/SvJae * C57BL/6N * FVB/N

 MP:0008256 abnormal myometrium morphology "any structural anomaly of the smooth muscle coat of the uterus, which forms the main mass of the organ and surrounds and supports the endometrium" [MESH:A02.633.570.500, MGI:brs "Beverly Richards-Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Tsc2tm1.1Mjg/Tsc2tm1.1Mjg,Pgrtm2(cre)Lyd/Pgr+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0008260 abnormal autophagy "abnormal catabolic process involving the degradation of a cell s own components through the lysosomal machinery" [MGI:honda "Hiraoki Onda, Mouse Genome Informatics Curator"]
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Allelic Composition: Tsc2tm1Djk/Tsc2+
Genetic Background: involves: 129S4/SvJae * C57BL/6J

Allelic Composition: Tsc2tm1Djk/Tsc2+,Tg(CAG-EGFP/Map1lc3b)53Nmz/0
Genetic Background: involves: 129S4/SvJae * C57BL/6 * C57BL/6J * C57BL/6NCrlj * DBA/2

Allelic Composition: Tsc2tm1Djk/Tsc2+,Atg7tm1Tchi/Atg7tm1Tchi,Tg(Camk2a-cre)T29-1Stl/0
Genetic Background: involves: 129S4/SvJae * BALB/c * C57BL * C57BL/6 * CBA/JNCrlj

 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"]
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Allelic Composition: Fbn1tm1Lper/Fbn1tm1Lper
Genetic Background: involves: 129/Sv * CD-1

 MP:0009092 endometrium hyperplasia "overdevelopment or increased size, usually due an increased number of cells, of the glandular mucous membrane lining of the uterine cavity that is hormonally responsive during the estrous/menstrual cycle and during pregnancy" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Tsc2tm1.1Mjg/Tsc2tm1.1Mjg,Pgrtm2(cre)Lyd/Pgr+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0009113 increased pancreatic beta cell mass "greater total physical bulk or volume of a pancreatic beta cell compared to the normal state" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Tsc2tm1Kido/Tsc2tm1Kido
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0009358 environmentally induced seizures "relatively mild but sudden stimulation due to changes in ambient habitat including lighting, sounds, touching, and/ or moving cage" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Tsc2tm1.1Kcess/Tsc2tm1.1Kcess,Emx1tm1(cre)Krj/Emx1+
Genetic Background: involves: 129S/Sv * C57BL/6J

 MP:0009936 abnormal dendritic spine morphology "any structural anomaly of the small membranous protrusion from the dendrite of a neuron that is involved in synaptic transmission; it typically receives input from a single synapse of an axon" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Morc1Tg(Tyr)1Az/Morc1Tg(Tyr)1Az
Genetic Background: involves: C57BL/6N * FVB/N

Allelic Composition: Tsc2tm1Djk/Tsc2+
Genetic Background: involves: 129S4/SvJae * C57BL/6J

Allelic Composition: Tsc2tm1Djk/Tsc2+,Atg7tm1Tchi/Atg7tm1Tchi,Tg(Camk2a-cre)T29-1Stl/0
Genetic Background: involves: 129S4/SvJae * BALB/c * C57BL * C57BL/6 * CBA/JNCrlj

 MP:0009940 abnormal hippocampus pyramidal cell morphology "any structural anomaly of the projection neuron in the pyramidal layer of the hippocampus" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Fbn1tm1Lper/Fbn1tm1Lper
Genetic Background: involves: 129/Sv * CD-1

 MP:0010294 increased kidney tumor incidence "greater than the expected number of tumors originating in the kidney in a given population in a given time period" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Tsc2tm1Kido/Tsc2tm1Kido
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0010383 increased adenoma incidence "greater than the expected number of a benign epithelial neoplasm with a glandular organization, occurring in a specific population in a given time period; this tumor type usually does not invade or infiltrate surrounding tissue but may remain a benign tumor or progress to malignancy" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MESH:C04.557.470.035]
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Allelic Composition: Tsc2tm1.2Mjg/Tsc2tm1.2Mjg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0010384 increased renal carcinoma incidence "greater than the expected number of malignant neoplasms arising from kidney epithelial tissue, occurring in a specific population in a given time period" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Trp53tm1Tyj/Trp53+
Genetic Background: involves: 129S2/SvPas * C57BL/6

Allelic Composition: Tsc2tm1Tno/Tsc2+
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0010656 thick myocardium "increased thickness of the heart muscle layer" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Trp53tm1Tyj/Trp53+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 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]
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Allelic Composition: Tsc2tm1.1Kcess/Tsc2tm1.1Kcess,Emx1tm1(cre)Krj/Emx1+
Genetic Background: involves: 129S/Sv * C57BL/6J

 MP:0011086 partial postnatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Tg(Pcp2-cre)2Mpin/0,Tsc2tm1.1Mjg/Tsc2tm1.2Mjg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0011091 complete prenatal lethality "death of all organisms of a given genotype in a population between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
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Allelic Composition: Tsc2tm1Mjg/Tsc2tm1Mjg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
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Allelic Composition: Trp53tm1Tyj/Trp53+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0011099 complete lethality throughout fetal growth and development "death of all organisms of a given genotype in a population between the completion of organogenesis and birth (Mus: E14 to approximately E18.5)" [MGI:csmith]
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Allelic Composition: Tsc2tm2.2Djk/Tsc2tm2.2Djk
Genetic Background: involves: 129S4/SvJae * C57BL/6

 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]
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Allelic Composition: Tsc2tm1.1Kcess/Tsc2tm1.1Kcess,Emx1tm1(cre)Krj/Emx1+
Genetic Background: involves: 129S/Sv * C57BL/6J

 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]
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Allelic Composition: Trp53tm1Tyj/Trp53+
Genetic Background: involves: 129S2/SvPas * C57BL/6

Allelic Composition: Tsc2tm1.2Mjg/Tsc2tm1.2Mjg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

Allelic Composition: Tsc2tm1Mjg/Tsc2tm1Mjg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0011109 partial lethality throughout fetal growth and development "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 the completion of organogenesis and birth (Mus: E14 to approximately E18.5)" [MGI:csmith]
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Allelic Composition: Tsc2tm1Mjg/Tsc2tm1Mjg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0011750 abnormal seminiferous tubule epithelium morphology "any structural anomaly of the stratified epithelial lining of the seminiferous tubules, consisting of the developing spermatozoa and the supporting Sertoli cells, which are tall, columnar type cells that line the tubule" [MGI:csmith]
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Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Tsc2tm1.1Mjg/Tsc2tm1.1Mjg
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6

 MP:0013401 increased endometrial gland number "greater than normal numbers of the simple or branched tubular glands found in the mucus membrane of the uterus" [MGI:Anna]
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Allelic Composition: Tsc2tm1.1Mjg/Tsc2tm1.1Mjg,Pgrtm2(cre)Lyd/Pgr+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0020395 abnormal response to social novelty "any anomaly in the interaction of an individual with a familiar versus a novel individual of the same species; in mouse the typical behavior is is for increased interaction with the novel individual" [PMID:23280234]
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Allelic Composition: Tsc2tm1Djk/Tsc2+
Genetic Background: involves: 129S4/SvJae * C57BL/6J

Allelic Composition: Tsc2tm1Djk/Tsc2+,Atg7tm1Tchi/Atg7tm1Tchi,Tg(Camk2a-cre)T29-1Stl/0
Genetic Background: involves: 129S4/SvJae * BALB/c * C57BL * C57BL/6 * CBA/JNCrlj

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000001729 Akt1 / P31750 / Mus musculus thymoma viral proto-onco 1 (Akt1), transcript variant 3, mRNA. / P31749* / AKT serine/threonine kinase 1*  / reaction
 ENSMUSG00000026812 Tsc1 / Q9EP53 / Hamartin / Q92574* / TSC complex subunit 1*  / complex / reaction
 ENSMUSG00000029513 Prkab1 / Q9R078 / protein kinase, AMP-activated, beta 1 non-catalytic subunit / Q9Y478* / protein kinase AMP-activated non-catalytic subunit beta 1*  / reaction
 ENSMUSG00000028944 Prkag2 / Q91WG5 / protein kinase, AMP-activated, gamma 2 non-catalytic subunit / Q9UGJ0* / protein kinase AMP-activated non-catalytic subunit gamma 2*  / reaction
 ENSMUSG00000028518 Prkaa2 / Q8BRK8 / protein kinase, AMP-activated, alpha 2 catalytic subunit / P54646* / protein kinase AMP-activated catalytic subunit alpha 2*  / reaction
 ENSMUSG00000050697 Prkaa1 / Q5EG47 / protein kinase, AMP-activated, alpha 1 catalytic subunit / Q13131* / protein kinase AMP-activated catalytic subunit alpha 1*  / reaction
 ENSMUSG00000038205 Prkab2 / Q6PAM0 / protein kinase, AMP-activated, beta 2 non-catalytic subunit / O43741* / protein kinase AMP-activated non-catalytic subunit beta 2*  / reaction
 ENSMUSG00000004056 Akt2 / Q60823 / Mus musculus thymoma viral proto-onco 2 (Akt2), transcript variant 4, mRNA. / P31751* / AKT serine/threonine kinase 2*  / reaction
 ENSMUSG00000021368 Q9D0K0 / Tbc1d7 / TBC1 domain family member 7 / Q9P0N9*  / complex / reaction
 ENSMUSG00000002496 Tsc2 / tuberous sclerosis 2 / P49815* / TSC complex subunit 2*  / complex
 ENSMUSG00000006542 Prkag3 / Q8BGM7 / protein kinase, AMP-activated, gamma 3 non-catatlytic subunit / Q9UGI9* / protein kinase AMP-activated non-catalytic subunit gamma 3*  / reaction
 ENSMUSG00000067713 O54950 / Prkag1 / protein kinase, AMP-activated, gamma 1 non-catalytic subunit / P54619* / protein kinase AMP-activated non-catalytic subunit gamma 1*  / reaction






 

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