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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Tsc1
TSC complex subunit 1
MGI:1929183
175 phenotypes from 5 alleles in 18 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Amhr2tm3(cre)Bhr/Amhr2+
Tsc1tm1Djk/Tsc1tm1Djk
involves: 129S4/SvJae * 129S7/SvEvBrd * C57BL/6 		abnormal myometrium morphology J:181774
abnormal oocyte morphology J:181774
abnormal ovary physiology J:181774
abnormal oviduct morphology J:181774
abnormal preimplantation embryo development J:181774
abnormal seminiferous tubule epithelium morphology J:187754
abnormal seminiferous tubule morphology J:187754
abnormal Sertoli cell morphology J:187754
abnormal spermatogenesis J:187754
abnormal testis morphology J:187754
decreased male germ cell number J:187754
decreased primordial ovarian follicle number J:181774
decreased testis weight J:187754
dilated oviduct J:181774
endometrium hyperplasia J:181774
failure of embryo implantation J:181774
female infertility J:181774
impaired ovarian folliculogenesis J:181774
increased atretic ovarian follicle number J:181774
increased Sertoli cell proliferation J:187754
normal neoplasm J:181774, J:187754
oocyte degeneration J:181774
premature ovarian failure J:181774
prolonged estrus J:181774
normal reproductive system phenotype J:181774
short diestrus J:181774
small testis J:187754
Myl2tm1(cre)Krc/Myl2+
Tsc1tm1Djk/Tsc1tm1Djk
involves: 129S4/SvJae 		abnormal atrial thrombosis J:96138
abnormal myocardial fiber morphology J:96138
decreased cardiac muscle contractility J:96138
dilated cardiomyopathy J:96138
increased myocardial fiber size J:96138
premature death J:96138
pulmonary vascular congestion J:96138
Tg(Tal1-cre/ERT)1Jrg/0
Tsc1tm1Djk/Tsc1tm1Djk
involves: 129S4/SvJae * C57BL/6 		abnormal retina morphology J:231316
abnormal retina vasculature morphology J:231316
edema J:231316
increased angiogenesis J:231316
increased extremity angiosarcoma incidence J:231316
increased hemangiosarcoma incidence J:231316
increased liver tumor incidence J:231316
increased metastatic potential J:231316
Tsc1em1(IMPC)Ccpcz/Tsc1+
C57BL/6NCrl-Tsc1em1(IMPC)Ccpcz/Ccpcz 		abnormal retina vasculature morphology J:211773
abnormal thymus morphology J:211773
enlarged thymus J:211773
Tsc1em1(IMPC)Ccpcz/Tsc1em1(IMPC)Ccpcz
C57BL/6NCrl-Tsc1em1(IMPC)Ccpcz/Ccpcz 		preweaning lethality, complete penetrance J:211773
Tsc1tm1.1Djk/Tsc1+
either: 129S4/SvJae-Tsc1tm1Djk or (involves: 129S4/SvJae * BALB/cJ) or (involves: 129S4/SvJae * C57BL/6J) 		increased hemangiosarcoma incidence J:75243
increased hepatic hemangioma incidence J:75243
increased renal carcinoma incidence J:75243
increased renal cystadenoma incidence J:75243
premature death J:75243
Tsc1tm1.1Djk/Tsc1tm1.1Djk
either: 129S4/SvJae-Tsc1tm1Djk or (involves: 129S4/SvJae * BALB/cJ) or (involves: 129S4/SvJae * C57BL/6J) 		embryonic growth retardation J:75243
embryonic lethality during organogenesis, complete penetrance J:75243
enlarged heart J:75243
hydrops fetalis J:75243
liver hypoplasia J:75243
pallor J:75243
pericardial effusion J:75243
Tsc1tm1Chdl/Tsc1+
involves: 129P2/OlaHsd * Balb/cOlaHsd * C57BL/6JOlaHsd 		increased hepatic hemangioma incidence J:99796
increased renal carcinoma incidence J:99796
increased renal cystadenoma incidence J:99796
kidney cyst J:99796
Tsc1tm1Chdl/Tsc1+
involves: 129P2/OlaHsd * C3H/HeNHsd * C57BL/6JOlaHsd 		increased hepatic hemangioma incidence J:99796
increased renal cystadenoma incidence J:99796
kidney cyst J:99796
Tsc1tm1Chdl/Tsc1+
involves: 129P2/OlaHsd * C57BL/6JOlaHsd 		increased hepatic hemangioma incidence J:99796
increased renal carcinoma incidence J:99796
increased renal cystadenoma incidence J:99796
kidney cyst J:99796
postnatal lethality, incomplete penetrance J:99796
Tsc1tm1Chdl/Tsc1tm1Chdl
B6NHsd.129P2-Tsc1tm1Chdl 		embryonic lethality during organogenesis, complete penetrance J:170999
increased embryonic tissue cell apoptosis J:170999
Tsc1tm1Chdl/Tsc1tm1Chdl
involves: 129P2/OlaHsd * C57BL/6JOlaHsd 		decreased embryo size J:99796
embryonic lethality during organogenesis, complete penetrance J:99796
exencephaly J:99796
fetal cardiomyocyte vacuoles J:99796
Tsc1tm1Djk/Tsc1+
Tg(Pcp2-cre)2Mpin/0
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * BALB/cJ * C57BL/6J 		abnormal nervous system physiology J:186699
abnormal Purkinje cell dendrite morphology J:186699
abnormal response to novel odor J:186699
abnormal sexual interaction J:186699
abnormal social investigation J:186699
excessive vocalization J:186699
increased grooming behavior J:186699
Tsc1tm1Djk/Tsc1tm1.1Djk
Tg(Syn1-cre)671Jxm/0
involves: 129S4/SvJae * C57BL/6 * CBA 		abnormal brain morphology J:121858
abnormal brain wave pattern J:121858
abnormal cerebral cortex morphology J:121858, J:136366
abnormal dendrite morphology J:136366
abnormal dentate gyrus morphology J:121858
abnormal hippocampus pyramidal cell layer J:121858
abnormal hippocampus region morphology J:121858
abnormal involuntary movement J:136366
abnormal limb posture J:121858
abnormal myelination J:121858, J:136366
abnormal neocortex morphology J:121858
abnormal neuron differentiation J:121858
abnormal neuron morphology J:121858, J:136366
abnormal spine curvature J:136366
decreased locomotor activity J:121858
hunched posture J:121858
hyperactivity J:121858
increased brain weight J:136366
increased startle reflex J:121858
limb grasping J:121858
premature death J:121858, J:136366
seizures J:121858
slow postnatal weight gain J:121858
sporadic seizures J:121858
straub tail J:121858
tremors J:121858
Tsc1tm1Djk/Tsc1tm1Djk
involves: 129S4/SvJae 		normal neoplasm J:212578
Tsc1tm1Djk/Tsc1tm1Djk
involves: 129S4/SvJae * C57BL/6 		abnormal hepatocyte morphology J:167208
abnormal liver physiology J:167208
decreased body temperature J:167208
decreased circulating ketone body level J:167208
decreased locomotor activity J:167208
enlarged liver J:167208
Tsc1tm1Djk/Tsc1tm1Djk
Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
involves: 129S4/SvJae * C57BL/6 * DBA 		abnormal hepatocyte morphology J:171445
abnormal hepatocyte physiology J:171445
abnormal homeostasis J:171445
decreased circulating triglyceride level J:171445
enlarged liver J:171445
impaired glucose tolerance J:171445
insulin resistance J:171445
normal liver/biliary system phenotype J:171445
Tsc1tm1Djk/Tsc1tm1Djk
Tg(Camk2a-cre)#Szi/0
involves: 129S4/SvJae * BALB/cJ * C57BL/6J * C57BL/6NTac * CBA 		astrocytosis J:138621
decreased locomotor activity J:138621
increased brain weight J:138621
limb grasping J:138621
neuron hypertrophy J:138621
postnatal lethality, complete penetrance J:138621
Tsc1tm1Djk/Tsc1tm1Djk
Tg(Col2a1-cre/ERT)KA3Smac/0
involves: 129S4/SvJae * FVB/N 		abnormal annulus fibrosus morphology J:273713
abnormal chest morphology J:273713
abnormal compact bone thickness J:273713
abnormal costal cartilage morphology J:273713
abnormal intervertebral disk development J:273713
abnormal intervertebral disk morphology J:273713
abnormal rib morphology J:273713
abnormal trabecular bone morphology J:273713
absent nucleus pulposus J:273713
decreased body length J:273713
decreased body weight J:273713
kyphosis J:273713
small intervertebral disk J:273713
small vertebrae J:273713
spinal stenosis J:273713
Tsc1tm1Djk/Tsc1tm1Djk
Tg(Gdf9-icre)5092Coo/?
involves: 129S4/SvJae * C57BL/6J 		abnormal ovarian follicle morphology J:155357
increased circulating follicle stimulating hormone level J:155357
increased circulating luteinizing hormone level J:155357
premature ovarian failure J:155357
reduced female fertility J:155357
Tsc1tm1Djk/Tsc1tm1Djk
Tg(GFAP-cre)8Gtm/0
involves: 129S4/SvJae * C57BL/6 * CBA 		abnormal associative learning J:134889
abnormal astrocyte physiology J:134889
abnormal contextual conditioning behavior J:134889
abnormal cued conditioning behavior J:134889
abnormal hippocampus pyramidal cell morphology J:167241
abnormal single cell response J:116872
abnormal spatial learning J:134889
astrocytosis J:167241
normal behavior/neurological phenotype J:134889
impaired coordination J:134889
impaired swimming J:134889
increased brain size J:167241
increased brain weight J:167241
increased neuron apoptosis J:134889
normal nervous system phenotype J:134889
premature death J:167241
reduced long-term potentiation J:134889
seizures J:116872, J:167241
slow postnatal weight gain J:167241
Tsc1tm1Djk/Tsc1tm1Djk
Tg(GFAP-cre)#Gtm/0
involves: 129S4/SvJae * C57BL/6 * CBA 		premature death J:176586
seizures J:176586
Tsc1tm1Djk/Tsc1tm1Djk
Tg(Lhx2-cre)1Lcar/0
involves: 129S4/SvJae * C57BL/6 * CBA 		abnormal anterior eye segment morphology J:239666
abnormal ciliary body morphology J:239666
abnormal cornea morphology J:239666
abnormal eye anterior chamber morphology J:239666
abnormal eye development J:239666
abnormal iris morphology J:239666
abnormal optic cup morphology J:239666
abnormal posterior eye segment morphology J:239666
iris hypoplasia J:239666
mydriasis J:239666
Tsc1tm1Djk/Tsc1tm1Djk
Tg(Lhx2-cre)1Lcar/0
involves: 129S4/SvJae * C57BL/6 * CBA * NMRI 		abnormal anterior eye segment morphology J:239666
abnormal ciliary body morphology J:239666
abnormal ciliary epithelium morphology J:239666
abnormal iris morphology J:239666
abnormal iris pigment epithelium J:239666
Tsc1tm1Djk/Tsc1tm1Djk
Tg(Pax8-rtTA2S*M2)1Koes/0
Tg(tetO-cre)LC1Bjd/0
involves: 129S4/SvJae * BALB/c * C57BL/6 * DBA 		kidney epithelium hyperplasia J:140925
polycystic kidney J:140925
postnatal lethality, complete penetrance J:140925
Tsc1tm1Djk/Tsc1tm1Djk
Tg(Pcp2-cre)2Mpin/0
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * BALB/cJ * C57BL/6J 		abnormal cerebellar Purkinje cell layer J:186699
abnormal learning/memory/conditioning J:186699
abnormal nervous system physiology J:186699
abnormal Purkinje cell axon morphology J:186699
abnormal Purkinje cell dendrite morphology J:186699
abnormal Purkinje cell morphology J:186699
abnormal response to novel odor J:186699
abnormal sexual interaction J:186699
abnormal social investigation J:186699
ataxia J:186699
decreased Purkinje cell number J:186699
excessive vocalization J:186699
impaired coordination J:186699
increased grooming behavior J:186699
short stride length J:186699
Tsc1tm1Djk/Tsc1tm1Djk
Tg(Syn1-cre)671Jxm/0
involves: 129S4/SvJae * C57BL/6 * CBA 		abnormal behavior J:121858
abnormal body size J:121858
abnormal nervous system morphology J:121858
abnormal nervous system physiology J:121858
premature death J:121858
Tsc1tm1Hin/Tsc1+
B6J.129S4-Tsc1tm1Hin 		abnormal social investigation J:221239
decreased anxiety-related response J:221239
hyporesponsive to tactile stimuli J:221239
increased vertical activity J:221239
Tsc1tm1Hin/Tsc1+
involves: 129S4/SvJae * C57BL/6J 		abnormal tumor morphology J:70463
increased hemangioma incidence J:70463
increased hepatic hemangioma incidence J:70463
increased incidence of tumors by chemical induction J:70463
increased leiomyosarcoma incidence J:70463
increased renal carcinoma incidence J:70463
increased renal cystadenoma incidence J:70463
increased tumor incidence J:70463
increased uterus leiomyoma incidence J:70463
premature death J:70463
Tsc1tm1Hin/Tsc1tm1Hin
involves: 129S4/SvJae * C57BL/6J 		abnormal fetal cardiomyocyte morphology J:70463
decreased embryo size J:70463
embryonic lethality during organogenesis, complete penetrance J:70463
exencephaly J:70463
liver hypoplasia J:70463
open neural tube J:70463
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11/12/2024
MGI 6.24 		The Jackson Laboratory