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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID
Fbn1
fibrillin 1
MGI:95489
136 phenotypes from 13 alleles in 15 genetic backgrounds
Export: Excel File
Allelic Composition
Genetic Background
Annotated Term Reference
Fbn1tm1.1Itl/Fbn1tm3Rmz
Tg(CMV-cre)1Cgn/0
involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * BALB/cJ * C57BL/6J
ascending aorta dilation J:187484
hemopericardium J:187484
hemothorax J:187484
postnatal lethality, complete penetrance J:187484
Fbn1tm1.1Itl/Fbn1tm3Rmz
Tg(Prrx1-cre)1Cjt/0
involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6J * SJL/J
abnormal bone marrow cell morphology/development J:187484
abnormal bone trabecula morphology J:187484
abnormal trabecular bone morphology J:187484
decreased bone mass J:187484
decreased bone mineral density J:187484
decreased bone trabecula number J:187484
decreased bone volume J:187484
decreased trabecular bone thickness J:187484
Fbn1tm1.1Itl/Fbn1tm3Rmz
Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0
involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6J * CD-1
abnormal bone trabecula morphology J:187484
abnormal trabecular bone morphology J:187484
decreased bone mass J:187484
decreased bone mineral density J:187484
decreased bone trabecula number J:187484
decreased bone volume J:187484
decreased trabecular bone thickness J:187484
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/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+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
abnormal aorta elastic fiber morphology J:91349
abnormal aorta wall morphology J:91349, J:188799
abnormal heart left atrium morphology J:94428
abnormal heart left ventricle morphology J:94428
abnormal mitral valve morphology J:94428
abnormal rib morphology J:91349
abnormal skeleton morphology J:91349
increased aorta wall thickness J:94428
kyphosis J:91349
mitral valve prolapse J:94428
overexpanded pulmonary alveoli J:91349
Fbn1tm1Hcd/Fbn1tm1Hcd
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
abnormal blood vessel morphology J:91349
abnormal mitral valve morphology J:94428
aortic dissection J:94428
postnatal lethality, complete penetrance J:91349, J:94428
Fbn1tm1Itl/Fbn1tm1Itl
involves: 129S1/Sv * 129X1/SvJ
abnormal cardiovascular system morphology J:187484
postnatal lethality, complete penetrance J:187484
Fbn1tm1Lper/Fbn1+
involves: 129/Sv * C57BL/6 * CD-1
abnormal aorta tunica media morphology J:167276
abnormal skeleton morphology J:167276
emphysema J:167276
Fbn1tm1Lper/Fbn1+
involves: 129/Sv * CD-1
abnormal aorta elastic fiber morphology J:167276
abnormal aorta tunica media morphology J:167276
abnormal lung morphology J:167276
abnormal respiratory bronchiole morphology J:167276
abnormal skeleton morphology J:167276
emphysema J:167276
hemothorax J:167276
kyphosis J:167276
lung inflammation J:167276
premature death J:167276
Fbn1tm1Lper/Fbn1tm1Lper
involves: 129/Sv * C57BL/6 * CD-1
embryonic lethality during organogenesis, complete penetrance J:167276
Fbn1tm1Lper/Fbn1tm1Lper
involves: 129/Sv * CD-1
embryonic lethality during organogenesis, incomplete penetrance J:167276
postnatal lethality, complete penetrance J:167276
Fbn1tm1Rmz/Fbn1tm1Rmz
involves: 129S4/SvJae * C57BL/6J
abnormal aorta morphology J:43199
abnormal lung development J:91815
abnormal lung vasculature morphology J:43199
abnormal pulmonary alveolus morphology J:43199
abnormal pulmonary interalveolar septum morphology J:91815, J:137934
abnormal pulmonary neuroendocrine body morphology J:137934
abnormal thrombosis J:43199
aortic dissection J:43199
aortic sinus aneurysm J:43199
emphysema J:43199
hemopericardium J:43199
hemothorax J:43199
impaired lung alveolus development J:91815, J:137934
increased number of pulmonary neuroendocrine bodies J:137934
increased solitary pulmonary neuroendocrine cell number J:137934
lung hemorrhage J:43199
overexpanded pulmonary alveoli J:91815, J:137934
postnatal lethality, complete penetrance J:43199, J:91815
Fbn1tm2.1Hcd/Fbn1+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N
abnormal cutaneous collagen fibril morphology J:206074
abnormal dermal layer morphology J:206074
abnormal interleukin secretion J:206074
abnormal skin turgor J:206074
abnormal T-helper 1 cell morphology J:206074
decreased subcutaneous adipose tissue amount J:206074
increased anti-nuclear antigen antibody level J:206074
increased autoantibody level J:206074
increased B cell number J:206074
increased interleukin-9 secretion J:206074
increased interleukin-13 secretion J:206074
increased plasma cell number J:206074
Fbn1tm2.1Hcd/Fbn1tm2.1Hcd
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N
embryonic lethality, complete penetrance J:206074
Fbn1tm2.1Lysa/Fbn1tm2.1Lysa
involves: C57BL/6
normal cardiovascular system phenotype J:165897
normal integument phenotype J:165897
normal mortality/aging J:165897
Fbn1tm2Rmz/Fbn1tm2Rmz
involves: 129S1/Sv * 129X1/SvJ
abnormal aorta morphology J:54081
abnormal aorta tunica adventitia morphology J:54081
abnormal aorta tunica intima morphology J:54081
abnormal aorta tunica media morphology J:54081
abnormal blood vessel morphology J:54081
abnormal rib morphology J:54081
aortic aneurysm J:54081
aortic elastic tissue lesions J:54081
aortitis J:54081
calcified artery J:54081
decreased bone mineral density J:187484
decreased bone trabecula number J:187484
decreased bone volume J:187484
diaphragmatic hernia J:54081
emphysema J:91815
enlarged chest J:54081
hemopericardium J:54081
hemorrhage J:54081
hemothorax J:54081
impaired lung alveolus development J:91815
increased length of long bones J:54081
kyphosis J:54081
lung inflammation J:91815
overexpanded pulmonary alveoli J:91815
premature death J:54081, J:91815
respiratory distress J:54081
Fbn1tm3.1Hcd/Fbn1+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N
abnormal cutaneous collagen fibril morphology J:206074
abnormal dermal layer morphology J:206074
abnormal interleukin secretion J:206074
abnormal skin turgor J:206074
abnormal T-helper 1 cell morphology J:206074
decreased subcutaneous adipose tissue amount J:206074
increased anti-nuclear antigen antibody level J:206074
increased autoantibody level J:206074
increased B cell number J:206074
increased interleukin-9 secretion J:206074
increased interleukin-13 secretion J:206074
increased plasma cell number J:206074
Fbn1tm3.1Hcd/Fbn1tm3.1Hcd
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N
skin fibrosis J:206074
Fbn1tm3.2Lysa/Fbn1+
Not Specified
abnormal dermal layer morphology J:181493
abnormal skin morphology J:181493
brachyphalangia J:181493
normal cardiovascular system phenotype J:181493
decreased subcutaneous adipose tissue amount J:181493
short metacarpal bones J:181493
thick dermal layer J:181493
thick skin J:181493
Fbn1tm3.2Lysa/Fbn1tm3.2Lysa
Not Specified
abnormal dermal layer morphology J:181493
abnormal skin morphology J:181493
brachyphalangia J:181493
normal cardiovascular system phenotype J:181493
decreased length of long bones J:181493
decreased subcutaneous adipose tissue amount J:181493
short metacarpal bones J:181493
short radius J:181493
short tibia J:181493
short ulna J:181493
thick dermal layer J:181493
thick skin J:181493
Fbn1tm3Rmz/Fbn1tm3Rmz
involves: C57BL/6
abnormal bone remodeling J:166786
Fbn1tm3Rmz/Fbn1tm3Rmz
Not Specified
abnormal aorta elastic fiber morphology J:110586
abnormal aorta elastic tissue morphology J:110586
abnormal diaphragm morphology J:110586
abnormal intercostal muscle morphology J:110586
abnormal respiration J:110586
abnormal rib morphology J:110586
abnormal skin tensile strength J:110586
aortic aneurysm J:110586
diaphragmatic hernia J:110586
hemopericardium J:110586
hemothorax J:110586
long ribs J:110586
overexpanded pulmonary alveoli J:110586
postnatal lethality, complete penetrance J:110586, J:187484
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 ducts J:15018, J:30961
emphysema J:3934, J:6566, J:15018, J:20724
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 alveoli 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/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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last database update
06/11/2019
MGI 6.14
The Jackson Laboratory