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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Fbn1
fibrillin 1
MGI:95489
88 phenotypes from multigenic genotypes
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Allelic Composition
Genetic Background		 Annotated Term Reference
Fbn1tm1.2Lysa/Fbn1+
involves: C57BL/6 		abnormal aorta elastic fiber morphology J:165897
abnormal cutaneous microfibril morphology J:165897
abnormal skeletal muscle fiber morphology J:165897
abnormal tendon morphology J:165897
Fbn1tm1.2Lysa/Fbn1+
Fbn2tm1Rmz/Fbn2tm1Rmz
involves: 129/Sv * C57BL/6 		neonatal lethality, incomplete penetrance J:165897
prenatal lethality, incomplete penetrance J:165897
Fbn1tm1.2Lysa/Fbn1tm1.2Lysa
involves: C57BL/6 		abnormal aorta elastic fiber morphology J:165897
abnormal cutaneous microfibril morphology J:165897
abnormal skeletal muscle fiber morphology J:165897
abnormal tendon morphology J:165897
postnatal lethality, complete penetrance J:165897
Fbn1tm1Hcd/Fbn1+
Tgfb2tm1Doe/Tgfb2+
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J 		abnormal aorta wall morphology J:188799
aortic aneurysm J:188799
dilated aorta bulb J:188799
normal growth/size/body region phenotype J:188799
Fbn1tm2.1Hcd/Fbn1+
Itgb3tm1Hyn/Itgb3+
involves: 129S * 129X1/SvJ * C57BL/6J * FVB/N 		abnormal cutaneous collagen fibril morphology J:206074
epidermal hyperplasia J:206074
normal integument phenotype J:206074
thick dermal layer J:206074
Fbn1tm3.1Hcd/Fbn1+
Itgb3tm1Hyn/Itgb3+
involves: 129S * 129X1/SvJ * C57BL/6J * FVB/N 		abnormal cutaneous collagen fibril morphology J:206074
epidermal hyperplasia J:206074
normal integument phenotype J:206074
thick dermal layer J:206074
Fbn1tm3Rmz/Fbn1+
Fbn2tm1Rmz/Fbn2tm1Rmz
involves: 129 		abnormal aorta tunica media morphology J:110586
lethality throughout fetal growth and development, incomplete penetrance J:110586
Fbn1tm3Rmz/Fbn1tm3Rmz
Fbn2tm1Rmz/Fbn2tm1Rmz
involves: 129 		abnormal aorta tunica media morphology J:110586
lethality throughout fetal growth and development, complete penetrance J:110586
Fbn1Tsk/Fbn1+
B6.Cg-Fbn1Tsk 		abnormal alveolar pore morphology J:6566, J:30961
abnormal aorta tunica adventitia morphology J:1326
abnormal bronchiole morphology J:30961
abnormal cutaneous collagen fibril morphology J:68448
abnormal cutaneous microfibril morphology J:46405
abnormal heart morphology J:17160, J:24523
abnormal heart right ventricle morphology J:20724
abnormal hypodermis morphology J:8047
abnormal lung morphology J:30961
abnormal pulmonary alveolus morphology J:1326, J:3934, J:6566, J:15018, J:30961
abnormal pulmonary alveolus wall morphology J:30961
abnormal pulmonary interalveolar septum morphology J:3934
abnormal skin morphology J:7057
abnormal skin physiology J:8140, J:68448
abnormal urinary bladder morphology J:3616
abnormal urinary bladder physiology J:3616
abnormal uterine NK cell morphology J:1377
alveolitis J:6566, J:15018, J:30961
cardiac fibrosis J:1562, J:24523
dilated pulmonary alveolar duct J:15018, J:30961
emphysema J:3934, J:6566, J:15018
heart right ventricle hypertrophy J:20724
normal homeostasis/metabolism phenotype J:29151
increased autoantibody level J:14166, J:21987
increased lung compliance J:6566, J:30961
increased mast cell number J:8047
increased susceptibility to type IV hypersensitivity reaction J:7185
increased total lung capacity J:6566, J:30961
lung inflammation J:6566, J:30961
overexpanded pulmonary alveolus J:15018, J:30961, J:68448
polyuria J:3616
skin fibrosis J:26096, J:68448
thick pulmonary interalveolar septum J:3934
thick skin J:68448
Fbn1Tsk/Fbn1+
B6.Cg-Fbn1Tsk +/+ Bloc1s6pa/JKcc 		abnormal aorta elastin content J:63844
abnormal dermal layer morphology J:63844
abnormal dermis reticular layer collagen network J:63844
abnormal dermis reticular layer morphology J:63844
Fbn1Tsk/Fbn1+
B10.D2/(58N)Sn 		abnormal cartilage morphology J:5629
abnormal costal cartilage morphology J:5629
abnormal dermal layer morphology J:6273
abnormal dermis papillary layer morphology J:6273
abnormal hypodermis morphology J:5629, J:6273
abnormal lung morphology J:5629
abnormal pelvic girdle bone morphology J:5629
abnormal skeleton morphology J:5629
abnormal skin condition J:27521
abnormal skin morphology J:6273
abnormal tendon morphology J:5629
abnormal tendon sheath morphology J:5629
abnormal tracheal cartilage morphology J:5629
cardiac hypertrophy J:32931
dilated heart atrium J:5629
dilated heart right ventricle J:5629
emphysema J:5629
enlarged cranium J:5629
enlarged heart J:5629
enlarged lumbar vertebrae J:5629
enlarged thoracic cavity J:5629
hunched posture J:5629
increased length of long bones J:5629
long mandible J:5629
long ribs J:5629
thick dermal layer J:6273
thick hypodermis J:6273
tight skin J:5629, J:27521, J:32931
Fbn1Tsk/Fbn1+
KitW/Kit+
involves: C57BL/6 * C57BL/10 * DBA/2 * WB/ReJ 		diluted coat color J:24076
skin fibrosis J:24076
tight skin J:24076
variable body spotting J:24076
Fbn1Tsk/Fbn1+
KitW/KitW-v
involves: C57BL/6 * C57BL/10 * DBA/2 * WB/ReJ 		abnormal hypodermis morphology J:24076
absent coat pigmentation J:24076
absent mast cells J:24076
anemia J:24076
overexpanded pulmonary alveolus J:24076
skin fibrosis J:24076
tight skin J:24076
Fbn1Tsk/Fbn1+
Il4tm1Nnt/Il4tm1Nnt
involves: C57BL/6 * C57BL/10 * DBA/2 		decreased interleukin-4 secretion J:57957
emphysema J:57957
normal integument phenotype J:57957
Fbn1Tsk/Fbn1+
Tgfb1tm1N/Tgfb1+
involves: 129S/SvEv * C57BL/6J * C57BL/10 * DBA/2 		abnormal cutaneous collagen fibril morphology J:68448
normal immune system phenotype J:68448
overexpanded pulmonary alveolus J:68448
Fbn1Tsk/Fbn1+
Tgfb1tm1N/Tgfb1tm1N
involves: 129S/SvEv * C57BL/6J * C57BL/10 * DBA/2 		prenatal lethality J:68448
Fbn1Tsk/Fbn1+
Il4ratm1Sz/Il4ra+
involves: BALB/cJ * C57BL/6J * C57BL/10 * DBA/2 		increased autoantibody level J:68448
overexpanded pulmonary alveolus J:68448
thick skin J:68448
Fbn1Tsk/Fbn1+
Il4ratm1Sz/Il4ratm1Sz
involves: BALB/cJ * C57BL/6J * C57BL/10 * DBA/2 		abnormal cutaneous collagen fibril morphology J:68448
normal immune system phenotype J:68448
normal integument phenotype J:68448
overexpanded pulmonary alveolus J:68448
Fbn1Tsk/Fbn1+
Stat6tm1Gru/Stat6tm1Gru
involves: 129S2/SvPas * C57BL/10 * DBA/2 		decreased interleukin-4 secretion J:57957
emphysema J:57957
normal integument phenotype J:57957
Fbn1Tsk/Fbn1+
Tg(TcraH-Y,TcrbH-Y)71Vbo/?
involves: C57BL/10 * DBA/2 		emphysema J:57957
normal integument phenotype J:57957
Fbn1Tsk/Fbn1+
Tg(Tcra2C,Tcrb2C)1Dlo/?
involves: C57BL/10 * DBA/2 		emphysema J:57957
normal integument phenotype J:57957
Fbn1Tsk Bloc1s6+/Fbn1+ Bloc1s6pa
B6.Cg-Fbn1Tsk +/+ Bloc1s6pa/J 		abnormal vascular endothelial cell physiology J:81020
abnormal vasodilation J:81020
normal cellular phenotype J:55591
normal hematopoietic system phenotype J:29151
Fbn1Tsk/Fbn1tm2Rmz
involves: 129S1/Sv * C57BL/6J 		abnormal aorta elastin content J:63844
abnormal dermal layer morphology J:63844
abnormal dermis reticular layer collagen network J:63844
abnormal dermis reticular layer morphology J:63844
Fbn1Tsk/Fbn1Tsk
B10.D2/(58N)Sn 		embryonic lethality between implantation and somite formation, complete penetrance J:5629
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
04/16/2024
MGI 6.23 		The Jackson Laboratory