MP:0000358 | abnormal cell content/ morphology | "structural anomalies of the minute protoplasmic masses that make up organized tissues and which are the fundamental structural and functional units of living organisms" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003] |
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Allelic Composition: Slc34a1tm1Hten/Slc34a1tm1Hten Genetic Background: B6.129S2-Slc34a1tm1Hten/J
Allelic Composition: Ift172avc1/Ift172avc1 Genetic Background: involves: C57BL/6J
Allelic Composition: Ift172avc1/Ift172wim Genetic Background: involves: C57BL/6J
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MP:0000428 | abnormal craniofacial morphology | "anomalous structure or development of the face and/or cranium" [Stedman s Medical Dictionary:ISBN 0-683-40008-8] |
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Allelic Composition: Ift172avc1/Ift172avc1 Genetic Background: involves: C57BL/6J
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MP:0000445 | short snout | "reduced length of the anterior facial part of the muzzle" [J:53370] |
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Allelic Composition: Ift172avc1/Ift172avc1 Genetic Background: involves: C57BL/6J
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MP:0000547 | short limbs | "reduced average length of the extremities" [MGI:CLS, J:61509] |
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Allelic Composition: Ift172tm1.1Rama/Ift172tm1.2Rama,Tg(Prrx1-cre)1Cjt/0 Genetic Background: involves: 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * SJL/J
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MP:0000562 | polydactyly | "greater than 5 digits on one or more autopods" [Stedman s Medical Dictionary:ISBN 0-683-40008-8] |
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Allelic Composition: Mesp1tm2(cre)Ysa/Mesp1+,Tg(CAG-Bgeo,-Spry2,-ALPP)1Mrt/0 Genetic Background: Not Specified
Allelic Composition: Ift172tm1.1Rama/Ift172tm1.2Rama,Tg(Prrx1-cre)1Cjt/0 Genetic Background: involves: 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * SJL/J
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MP:0000787 | abnormal telencephalon morphology | "any malformation or absence of the paired anteriolateral division of the prosencephalon plus the lamina terminalis from which the olfactory lobes, cerebral cortex, and subcortical nuclei are derived " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8] |
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Allelic Composition: Ift172tm1Lmgd/Ift172tm1Lmgd Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
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MP:0000830 | abnormal diencephalon morphology | "any malformation or absence of the paired caudal parts of the prosencephalon from which the thalamus, hypothalamus, epithalamus and subthalamus are derived; these regions regulate autonomic, visceral and endocrine function, and process information directed to the cerebral cortex" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3] |
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Allelic Composition: Ift172tm1Lmgd/Ift172tm1Lmgd Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
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MP:0000913 | abnormal brain development | "malformed or incomplete differentiation of the brain" [MGI:cls, J:49840] |
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Allelic Composition: Mesp1tm2(cre)Ysa/Mesp1+,Tg(CAG-Bgeo,-Spry2,-ALPP)1Mrt/0 Genetic Background: Not Specified
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MP:0000914 | exencephaly | "neurocranial defects resulting in exposure or extrusion of the brain" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840] |
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Allelic Composition: Ift88fxo/Ift88fxo Genetic Background: C3.B6J-Ift88fxo
Allelic Composition: Ift172tm1Lmgd/Ift172tm1Lmgd Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
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MP:0000925 | abnormal floor plate morphology | "malformation or absence of a transient group of neuroepithelial cells located at the ventral midline of the neural tube that profoundly influences the development of the vertebrate central nervous system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator] |
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Allelic Composition: Ift88fxo/Ift88tm1Rpw Genetic Background: involves: 129/Sv * C3HeB/FeJ * C57BL/6J
Allelic Composition: Ift172wim/Del(5D5Mit73-D5Mit351)5Jcs Genetic Background: involves: 129S4/SvJae * C3HeB/FeJ * C57BL/6J
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MP:0000926 | absent floor plate | "missing ventral midline thinning of the developing neural tube" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:35802] |
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Allelic Composition: Ift172wim/Ift172wim,Kif7maki/Kif7maki,Tg(Hlxb9-GFP)1Tmj/? Genetic Background: involves: C57BL/6J * FVB/N
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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: Ift88fxo/Ift88tm1Rpw Genetic Background: involves: 129/Sv * C3HeB/FeJ * C57BL/6J
Allelic Composition: Ift172wim/Ift172wim,Smobnb/Smobnb Genetic Background: involves: C57BL/6J
Allelic Composition: Ift172tm1Lmgd/Ift172tm1Lmgd Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
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MP:0000933 | abnormal rhombomere morphology | "malformation of the transverse segments in the hindbrain region of the developing neural tube" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:1776] |
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Allelic Composition: Ift172tm1Lmgd/Ift172tm1Lmgd Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
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MP:0000939 | reduced motor neuron number | "fewer than normal numbers of cells that innervate an effector (muscle or glandular) tissue" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159] |
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Allelic Composition: Ift172wim/Ift172wim,Smobnb/Smobnb Genetic Background: involves: C57BL/6J
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MP:0000955 | abnormal spinal cord morphology | "malformation or disorganization of the cylindrical tissue of the vertebral canal that extends from the medulla oblongata to the conus medullaris" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator] |
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Allelic Composition: Ift88fxo/Ift88fxo Genetic Background: C3.B6J-Ift88fxo
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MP:0001293 | anophthalmia | "congenital absence of all tissues of the eyes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CML, J:71979] |
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Allelic Composition: Mesp1tm2(cre)Ysa/Mesp1+,Tg(CAG-Bgeo,-Spry2,-ALPP)1Mrt/0 Genetic Background: Not Specified
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MP:0001672 | abnormal embryogenesis/ development | "anomaly in the establishment of the characteristic configuration of the embryonic body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8] |
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Allelic Composition: Ift172tm1.1Rama/Ift172tm1.2Rama,Tg(Prrx1-cre)1Cjt/0 Genetic Background: involves: 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * SJL/J
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MP:0001706 | abnormal left-right axis patterning | "anomaly in the formation or development of the body or a specific organ of the body in relation to the left and right sides of the body or organ" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator] |
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Allelic Composition: Ift88fxo/Ift88fxo Genetic Background: C3.B6J-Ift88fxo
Allelic Composition: Ift172tm1Lmgd/Ift172tm1Lmgd Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
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MP:0001785 | edema | "an accumulation of an excessive amount of watery fluid in cells or intercellular tissues" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54065] |
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Allelic Composition: Mesp1tm2(cre)Ysa/Mesp1+,Tg(CAG-Bgeo,-Spry2,-ALPP)1Mrt/0 Genetic Background: Not Specified
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MP:0001891 | hydroencephaly | "excessive accumulation of cerebrospinal fluid in the brain, especially the cerebral ventricles, often leading to increased brain size and other brain trauma" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings, 2003] |
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Allelic Composition: Ift172avc1/Ift172avc1 Genetic Background: involves: C57BL/6J
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MP:0001914 | hemorrhage | "loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8] |
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Allelic Composition: Ift172tm1Lmgd/Ift172tm1Lmgd Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
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MP:0002081 | perinatal lethality | "death anytime between E18.5 and postnatal day 1 " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator] |
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Allelic Composition: Arntltm2Bra/Arntltm2Bra,Tg(Tek-cre)12Flv/0 Genetic Background: involves: C3H * C57BL/6 * C57BL/6J
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MP:0002109 | abnormal limb morphology | "abnormal development of limbs resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator] |
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Allelic Composition: Ift172avc1/Ift172wim Genetic Background: involves: C57BL/6J
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MP:0002127 | abnormal cardiovascular system morphology | "abnormal development of the heart or vascular tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator] |
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Allelic Composition: Ift172avc1/Ift172avc1 Genetic Background: involves: C57BL/6J
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MP:0002135 | abnormal kidney morphology | "abnormal development of the kidney resulting in structural abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator] |
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Allelic Composition: Ift172avc1/Ift172avc1 Genetic Background: involves: C57BL/6J
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MP:0002151 | abnormal neural tube morphology/development | "anomalous structure of or development of the embryonic neural tube resulting in structural anomaly" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator] |
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Allelic Composition: Ift172wim/Ift172wim,Kif7maki/Kif7maki,Tg(Hlxb9-GFP)1Tmj/? Genetic Background: involves: C57BL/6J * FVB/N
Allelic Composition: Ift172tm1.2Rama/Ift172tm1.2Rama Genetic Background: involves: 129S4/SvJaeSor * 129X1/SvJ * BALB/c * C57BL/6
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MP:0002282 | abnormal trachea morphology | "structral anomaly of the tube descending from the larynx and branching into the right and left main bronchi" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator] |
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Allelic Composition: Ift172avc1/Ift172avc1 Genetic Background: involves: C57BL/6J
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MP:0002764 | short tibia | " reduced length of the medial and larger bone of the lower leg" [J:12736, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator] |
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Allelic Composition: Ift172avc1/Ift172avc1 Genetic Background: involves: C57BL/6J
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MP:0002765 | short fibula | "reduced length of the lateral and smaller of bone of the lower leg" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:12736] |
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Allelic Composition: Ift172avc1/Ift172avc1 Genetic Background: involves: C57BL/6J
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MP:0003109 | short femur | "reduced length of the long bone of the thigh" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8] |
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Allelic Composition: Ift172avc1/Ift172avc1 Genetic Background: involves: C57BL/6J
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MP:0003130 | anal atresia | "absence of a connection between the anal pit and the rectum" [smb:Susan M. Bello, Mouse Genome Informatics Curator, J:91491] |
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Allelic Composition: Ift172avc1/Ift172avc1 Genetic Background: involves: C57BL/6J
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MP:0003276 | esophageal atresia | "congenital blockage or absence of the lumen of the esophagus" [ncbi:Matthew Mailman, NCBI request, MeSH:National Library of Medicine - Medical Subject Headings , 2003] |
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Allelic Composition: Ift172avc1/Ift172avc1 Genetic Background: involves: C57BL/6J
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MP:0003649 | reduced right ventricle | |
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Allelic Composition: Ift172tm1Lmgd/Ift172tm1Lmgd Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
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MP:0004131 | abnormal embryonic ciliary morphology | "any structural malformation of the earliest cilia of the mouse embryo found on the cells of the embryonic node" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator] |
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Allelic Composition: Ift172avc1/Ift172avc1 Genetic Background: involves: C57BL/6J
Allelic Composition: Ift172avc1/Ift172wim Genetic Background: involves: C57BL/6J
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MP:0004132 | absent embryonic cilia | "absence of cilia on the cells of the embryonic node " [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator] |
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Allelic Composition: Ift88fxo/Ift88tm1Rpw Genetic Background: involves: 129/Sv * C3HeB/FeJ * C57BL/6J
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MP:0004252 | abnormal direction of looping morphogenesis | "deviation from the normal rightward direction of cardiac looping" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"] |
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Allelic Composition: Ift88fxo/Ift88tm1Rpw Genetic Background: involves: 129/Sv * C3HeB/FeJ * C57BL/6J
Allelic Composition: Ift172wim/Ift172wim,Smobnb/Smobnb Genetic Background: involves: C57BL/6J
Allelic Composition: Ift172tm1Lmgd/Ift172tm1Lmgd Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
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MP:0004261 | abnormal embryonic neuroepithelium morphology | "any structural anomaly in the epithelial cell layer that lines the neural tube and develops into the nervous system and into the neural crest cells" [ISBN:0838580343 "Kandel ER, et al. Principles of Neural Science, 3rd edition", MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"] |
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Allelic Composition: Ift172tm1Lmgd/Ift172tm1Lmgd Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
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MP:0004351 | short humerus | "reduced length of one or both of the bones of the forelimb that articulates with the scapula above and the radius and ulna below" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"] |
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Allelic Composition: Ift172avc1/Ift172avc1 Genetic Background: involves: C57BL/6J
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MP:0004355 | short radius | "reduced length of the short bone of the lateral forearm" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"] |
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Allelic Composition: Ift172avc1/Ift172avc1 Genetic Background: involves: C57BL/6J
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MP:0004359 | short ulna | "reduced length of the medial and larger of the two bones of the forearm" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"] |
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Allelic Composition: Ift172avc1/Ift172avc1 Genetic Background: involves: C57BL/6J
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MP:0004686 | decreased length of long bones | "reduced end-to-end length of the several elongated bones of the extremities" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"] |
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Allelic Composition: Ift172avc1/Ift172avc1 Genetic Background: involves: C57BL/6J
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MP:0005157 | holoprosencephaly | "presence of a single forebrain hemisphere or lobe; often accompanied by a deficit in median facial development" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:83058] |
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Allelic Composition: Ift172tm1Lmgd/Ift172tm1Lmgd Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
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MP:0005325 | abnormal glomerulus | "anomalous structure of the capillary loops of the kidney that normally function as a filtration unit" [J:57971, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator] |
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Allelic Composition: Ift172avc1/Ift172avc1 Genetic Background: involves: C57BL/6J
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MP:0006126 | abnormal outflow tract development | "anomaly in the development of the common arterial trunk that forms the aorta and pulmonary artery" [smb:Susan M Bello, Mouse Genome Informatics Curator] |
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Allelic Composition: Ift172tm1Lmgd/Ift172tm1Lmgd Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
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MP:0008725 | enlarged heart atrium | "increased size of one or both of the two upper chambers of the heart, to which the blood returns from the circulation" [MESH:A07.541.358] |
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Allelic Composition: Arntltm2Bra/Arntltm2Bra,Tg(Tek-cre)12Flv/0 Genetic Background: involves: C3H * C57BL/6 * C57BL/6J
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MP:0008772 | enlarged heart ventricle | "increased average size of the heart ventricles compared to the average for a particular population" [MGI:rbabiuk "Randall Babiuk, Mouse Genome Informatics Curator"] |
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Allelic Composition: Arntltm2Bra/Arntltm2Bra,Tg(Tek-cre)12Flv/0 Genetic Background: involves: C3H * C57BL/6 * C57BL/6J
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MP:0009266 | abnormal mesendoderm development | "failure or abnormality in the formation of the embryonic cell layer that gives rise to both the endoderm and mesoderm" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"] |
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Allelic Composition: Ift172tm1Lmgd/Ift172tm1Lmgd Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
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MP:0009743 | preaxial polydactyly | "duplication of all or part of the first ray on one or more of the autopods" [PMID:19125433] |
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Allelic Composition: Arntltm2Bra/Arntltm2Bra,Tg(Tek-cre)12Flv/0 Genetic Background: involves: C3H * C57BL/6 * C57BL/6J
Allelic Composition: Ift172avc1/Ift172avc1 Genetic Background: involves: C57BL/6J
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MP:0009890 | cleft secondary palate | "congenital fissure of the tissues normally uniting to form the secondary palate" [PMID:16680722] |
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Allelic Composition: Ift172avc1/Ift172avc1 Genetic Background: involves: C57BL/6J
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MP:0010412 | atrioventricular septal defect | "defects in the thin membranous structure between the right atrium and left ventricle that arise from faulty development of the embryonic endocardial cushions; the spectrum ranges from a primum atrial septal defect and cleft mitral valve, known as a partial atrioventricular septal defect (partial AVSD), to defects of both the primum atrial septum and inlet ventricular septum and the presence of a common atrioventricular valve, referred to as complete atrioventricular septal defect (complete AVSD)" [http://emedicine.medscape.com] |
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Allelic Composition: Ift172avc1/Ift172avc1 Genetic Background: involves: C57BL/6J
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MP:0010413 | complete atrioventricular septal defect | "a type of atrioventricular septal defect in which a single atrioventricular valve annulus, a common atrioventricular valve, and a defect of the inlet ventricular septum are observed; deficiency of the atrioventricular septum also results in the presence of a large primum atrial septal defect" [http://emedicine.medscape.com] |
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Allelic Composition: Arntltm2Bra/Arntltm2Bra,Tg(Tek-cre)12Flv/0 Genetic Background: involves: C3H * C57BL/6 * C57BL/6J
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MP:0010881 | esophagus hypoplasia | "underdevelopment or decreased size of the esophagus, usually due a reduced number of cells" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"] |
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Allelic Composition: Ift172avc1/Ift172avc1 Genetic Background: involves: C57BL/6J
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MP:0010884 | esophagus stenosis | "abnormal narrowing or constriction of the esophagus" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"] |
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Allelic Composition: Ift172avc1/Ift172avc1 Genetic Background: involves: C57BL/6J
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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] |
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Allelic Composition: Ift172avc1/Ift172avc1 Genetic Background: involves: C57BL/6J
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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: Ift172tm1.2Rama/Ift172tm1.2Rama Genetic Background: involves: 129S4/SvJaeSor * 129X1/SvJ * BALB/c * C57BL/6
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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: Ift88fxo/Ift88tm1Rpw Genetic Background: involves: 129/Sv * C3HeB/FeJ * C57BL/6J
Allelic Composition: Ift172wim/Ift172wim Genetic Background: involves: C3HeB/FeJ * C57BL/6J
Allelic Composition: Ift172wim/Ift172wim,Smobnb/Smobnb Genetic Background: involves: C57BL/6J
Allelic Composition: Ift172tm1Lmgd/Ift172tm1Lmgd Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
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MP:0011380 | enlarged brain ventricle | "increased size of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord" [MGI:smb] |
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Allelic Composition: Ift172avc1/Ift172avc1 Genetic Background: involves: C57BL/6J
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