| MP:0000111 | cleft palate | "congenital fissure of the tissues normally uniting to form the palate" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840] |
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Allelic Composition: Tg(CAG-Rpgr)mROrfWrght/0,Tg(CAG-Rpgr)mRDefWrght/0,Rpgrtm1Tili/Rpgrtm1Tili
Genetic Background: involves: 129S4/SvJae * C57BL/6J
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| MP:0000284 | double outlet right ventricle | "both the aorta and the pulmonary trunk originate from the right ventricle, usually in conjunction with a ventricular septal defect" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:67826] |
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Allelic Composition: Cc2d2ab2b1035Clo/Cc2d2ab2b1035Clo
Genetic Background: C57BL/6J-Cc2d2ab2b1035Clo
|
| 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: Engtm2.1Hma/Engtm2.1Hma,Tg(Tagln-cre)1Her/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL
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| MP:0000644 | dextrocardia | "cardiac apex pointing to the right as opposed to the normal levocardia" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator] |
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Allelic Composition: Cc2d2atm1Asw/Cc2d2atm1Asw
Genetic Background: Not Specified
|
| 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: Cc2d2atm1Asw/Cc2d2atm1Asw
Genetic Background: Not Specified
|
| MP:0000928 | incomplete cephalic closure | "arrest of the fusion of the cephalic neural folds" [J:12622] |
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Allelic Composition: Cc2d2atm1Asw/Cc2d2atm1Asw
Genetic Background: Not Specified
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| MP:0001262 | decreased body weight | "lower than normal average weight " [J:61295] |
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Allelic Composition: Asxl1tm1a(EUCOMM)Wtsi/Asxl1+
Genetic Background: B6Dnk;B6Brd;B6N-Asxl1tm1a(EUCOMM)Wtsi Tyrc-Brd/WtsiH
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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: Tg(CAG-Rpgr)mROrfWrght/0,Tg(CAG-Rpgr)mRDefWrght/0,Rpgrtm1Tili/Rpgrtm1Tili
Genetic Background: involves: 129S4/SvJae * C57BL/6J
Allelic Composition: Cc2d2atm1Asw/Cc2d2atm1Asw
Genetic Background: Not Specified
|
| MP:0001297 | microphthalmia | "reduced average size of the eyes" [J:18048] |
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Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ
Allelic Composition: Cc2d2ab2b1035Clo/Cc2d2ab2b1035Clo
Genetic Background: C57BL/6J-Cc2d2ab2b1035Clo
Allelic Composition: Cc2d2atm1Asw/Cc2d2atm1Asw
Genetic Background: Not Specified
|
| MP:0001325 | abnormal retina morphology | "structural or developmental anomaly of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator] |
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Allelic Composition: Cc2d2atm1Asw/Cc2d2atm1Asw
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: Engtm2.1Hma/Engtm2.1Hma,Tg(Tagln-cre)1Her/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL
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| MP:0001698 | reduced embryo size | "smaller proportions of embryo compared to littermates" [J:61790] |
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Allelic Composition: Cc2d2atm1Asw/Cc2d2atm1Asw
Genetic Background: Not Specified
|
| 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: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ
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| 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: Cc2d2atm1Asw/Cc2d2atm1Asw
Genetic Background: Not Specified
|
| 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: Cc2d2atm1Asw/Cc2d2atm1Asw
Genetic Background: Not Specified
|
| 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: Cc2d2atm1Asw/Cc2d2atm1Asw
Genetic Background: Not Specified
|
| 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: Engtm2.1Hma/Engtm2.1Hma,Tg(Tagln-cre)1Her/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL
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| MP:0002285 | abnormal tracheal ciliated epithelium morphology | "structural anomaly of the epithelial lining of the trachea which contains numerous ciliated cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Pathology:ISBN 0-397-51047-0] |
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Allelic Composition: Engtm2.1Hma/Engtm2.1Hma,Tg(Tagln-cre)1Her/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL
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| MP:0002633 | persistent truncus arteriosis | "complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator] |
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Allelic Composition: Cc2d2ab2b1035Clo/Cc2d2ab2b1035Clo
Genetic Background: C57BL/6J-Cc2d2ab2b1035Clo
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| MP:0002766 | situs inversus | "lateral transposition of the viscera of the thorax and abdomen, sometimes incomplete" [MeSH:National Library of Medicine - Medical Subject Headings , 2003] |
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Allelic Composition: Cc2d2atm1Asw/Cc2d2atm1Asw
Genetic Background: Not Specified
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| 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: Cc2d2ab2b1035Clo/Cc2d2ab2b1035Clo
Genetic Background: C57BL/6J-Cc2d2ab2b1035Clo
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| MP:0003729 | abnormal photoreceptor outer segments | "malformation/anomalous structure of the photoreceptor layer which contains stacks of membranous discs that are rich in the visual pigment rhodopsin " [monikat:Monika Tomczuk, Mouse Genome Informatics Curator] |
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Allelic Composition: Cc2d2atm1Asw/Cc2d2atm1Asw
Genetic Background: Not Specified
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| MP:0003730 | abnormal photoreceptor inner segments | "malformation/anomalous structure of the photoreceptor layer which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc)" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator] |
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Allelic Composition: Cc2d2atm1Asw/Cc2d2atm1Asw
Genetic Background: Not Specified
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| MP:0003731 | abnormal outer nuclear layer morphology | "malformation/anomalous structure of the retinal layer that contains the nuclei and cell bodies of rods and cones" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator] |
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Allelic Composition: Cc2d2atm1Asw/Cc2d2atm1Asw
Genetic Background: Not Specified
|
| MP:0004017 | duplex kidney | "a kidney that is split into two separate collecting systems; there may be a duplex ureter or a single ureter; may present unilaterally or bilaterally" [rbabiuk:Randall Babiuk, Mouse Genome Informatics Curator] |
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Allelic Composition: Cc2d2ab2b1035Clo/Cc2d2ab2b1035Clo
Genetic Background: C57BL/6J-Cc2d2ab2b1035Clo
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| MP:0004066 | abnormal Henson s node morphology | "malformation of cells in the small pit at the anterior end of the primitive streak that are important in determining left-right asymmetry" [smb:Susan M Bello, Mouse Genome Informatics Curator] |
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Allelic Composition: Cc2d2atm1Asw/Cc2d2atm1Asw
Genetic Background: Not Specified
|
| MP:0004133 | heterotaxia | "abnormal arrangement of organs or parts of the body in relation to each other" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator] |
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Allelic Composition: Cc2d2ab2b1035Clo/Cc2d2ab2b1035Clo
Genetic Background: C57BL/6J-Cc2d2ab2b1035Clo
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| MP:0004521 | abnormal cochlear hair cell stereociliary bundle morphology | "any structural anomaly or disruption of the typical pattern of arrangement of mechanosensitive hair bundles which are composed of thick long microvilli (stereocilia) and are located at the apical end of cochlear inner and outer hair cells" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"] |
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Allelic Composition: Cc2d2atm1Asw/Cc2d2atm1Asw
Genetic Background: Not Specified
|
| 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: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ
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| MP:0005202 | lethargy | "mild impairment of consciousness resulting in reduced alertness and awareness; ultimately due to generalized brain dysfunction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8] |
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Allelic Composition: Cc2d2atm1Asw/Cc2d2atm1Asw
Genetic Background: Not Specified
|
| MP:0005221 | abnormal rostral-caudal axis patterning | "anomaly in the development or formation of the axis that runs from the head to the tail of the body" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator] |
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Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ
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| MP:0005551 | abnormal eye electrophysiology | "abnormal function of the eye as determined through electrophysiological recordings from single cells or summary recordings from multiple cells (e.g. electroretinogram)" [NMF:Stephanie Pretel, Neuroscience Mutagenesis Facility Curator] |
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Allelic Composition: Cc2d2atm1Asw/Cc2d2atm1Asw
Genetic Background: Not Specified
|
| MP:0006123 | tricuspid valve atresia | "congenital closure of the tricuspid valve" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator] |
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Allelic Composition: Cc2d2ab2b1035Clo/Cc2d2ab2b1035Clo
Genetic Background: C57BL/6J-Cc2d2ab2b1035Clo
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| MP:0006130 | pulmonary valve atresia | "congenital closure of the pulmonary valve" [smb:Susan M Bello, Mouse Genome Informatics Curator] |
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Allelic Composition: Cc2d2ab2b1035Clo/Cc2d2ab2b1035Clo
Genetic Background: C57BL/6J-Cc2d2ab2b1035Clo
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| MP:0008528 | polycystic kidney | "the development of innumerable cysts in the kidneys filled with fluid replacing much of the mass of the kidneys leading to reduction in kidney function and frequently kidney failure" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"] |
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Allelic Composition: Cc2d2ab2b1035Clo/Cc2d2ab2b1035Clo
Genetic Background: C57BL/6J-Cc2d2ab2b1035Clo
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| MP:0008546 | abnormal vesicle-mediated transport | "anomaly in the directed movement of substances, either within a vesicle or in the vesicle membrane, into, out of or within a cell" [GO:0016192] |
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Allelic Composition: Cc2d2atm1Asw/Cc2d2atm1Asw
Genetic Background: Not Specified
|
| 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: Cc2d2ab2b1035Clo/Cc2d2ab2b1035Clo
Genetic Background: C57BL/6J-Cc2d2ab2b1035Clo
Allelic Composition: Cc2d2atm1Asw/Cc2d2atm1Asw
Genetic Background: Not Specified
|
| MP:0010202 | focal dorsal hair loss | "focal hair loss on the dorsal area of a rodent resulting in dorsal skin visible in a patch where hair loss occurs" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", MGI:Sanger_Karp "Submission from Natasha Karp"] |
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Allelic Composition: Cc2d2atm1Asw/Cc2d2atm1Asw
Genetic Background: Not Specified
|
| MP:0010402 | ventricular septal defect | "abnormal communications between the two lower chambers of the heart, including such defects in the perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular regions" [MESH:C14.240.400.560.540] |
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Allelic Composition: Cc2d2ab2b1035Clo/Cc2d2ab2b1035Clo
Genetic Background: C57BL/6J-Cc2d2ab2b1035Clo
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| MP:0010406 | absent atrial septum | "absence of the thin membranous structure between the two heart atria" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"] |
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Allelic Composition: Cc2d2ab2b1035Clo/Cc2d2ab2b1035Clo
Genetic Background: C57BL/6J-Cc2d2ab2b1035Clo
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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: Cc2d2ab2b1035Clo/Cc2d2ab2b1035Clo
Genetic Background: C57BL/6J-Cc2d2ab2b1035Clo
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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: Cc2d2ab2b1035Clo/Cc2d2ab2b1035Clo
Genetic Background: C57BL/6J-Cc2d2ab2b1035Clo
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| MP:0010420 | muscular ventricular septal defect | "abnormal communications between the two lower chambers of the heart, involving the muscular septum and often occurring as multiple communications, and includes central muscular or midmuscular, apical, or marginal communications when the defect is along the RV-septal junction; any single defect observed from the LV aspect may have several openings on the RV aspect" [http://emedicine.medscape.com] |
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Allelic Composition: Cc2d2ab2b1035Clo/Cc2d2ab2b1035Clo
Genetic Background: C57BL/6J-Cc2d2ab2b1035Clo
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| MP:0010865 | prenatal growth retardation | "slow or limited development during the prenatal period" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"] |
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Allelic Composition: Cc2d2ab2b1035Clo/Cc2d2ab2b1035Clo
Genetic Background: C57BL/6J-Cc2d2ab2b1035Clo
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| MP:0011053 | decreased respiratory motile cilia number | "reduced number of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the respiratory tract" [GO:0031514, MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"] |
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Allelic Composition: Cc2d2atm1Asw/Cc2d2atm1Asw
Genetic Background: Not Specified
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| MP:0011060 | abnormal kinocilium morphology | "any structural anomaly of the nonmotile primary cilium that is found at the apical surface of auditory receptor cells" [GO:0060091] |
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Allelic Composition: Cc2d2atm1Asw/Cc2d2atm1Asw
Genetic Background: Not Specified
|
| MP:0011066 | abnormal renal tubule epithelial cell primary cilium morphology | "any structural anomaly of the single non-motile cilium of a renal tubule epithelial cell that projects into the luminal space of the tubules where it is thought to act as a flow sensor" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", PMID:17995581] |
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Allelic Composition: Cc2d2atm1Asw/Cc2d2atm1Asw
Genetic Background: Not Specified
|
| 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: Cc2d2atm1Asw/Cc2d2atm1Asw
Genetic Background: Not Specified
|
| MP:0011254 | superior-inferior ventricles | "an abnormality in which the heart ventricles are in a superior-inferior relationship due to abnormal displacement of the ventricular mass along the horizontal plane of its long axis; this frequently occurs together with criss-cross atrio-ventricular relationships" [ISBN:0-683-40008-8, MGI:csmith] |
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Allelic Composition: Cc2d2ab2b1035Clo/Cc2d2ab2b1035Clo
Genetic Background: C57BL/6J-Cc2d2ab2b1035Clo
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| MP:0011510 | biventricular, discordant atrioventricular connection | |
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Allelic Composition: Cc2d2ab2b1035Clo/Cc2d2ab2b1035Clo
Genetic Background: C57BL/6J-Cc2d2ab2b1035Clo
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| MP:0011667 | double outlet right ventricle with atrioventricular septal defect | "a form of DORV in which there is also a complete atrioventricular canal" [MGI:csmith] |
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Allelic Composition: Cc2d2ab2b1035Clo/Cc2d2ab2b1035Clo
Genetic Background: C57BL/6J-Cc2d2ab2b1035Clo
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| MP:0013197 | decreased embryonic cilium number | "reduced number of the cilia of the mouse embryo found on the cells of the embryonic node" [MGI:anna] |
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Allelic Composition: Cc2d2atm1Asw/Cc2d2atm1Asw
Genetic Background: Not Specified
|
| MP:0013203 | abnormal primary cilium morphology | "any structural anomaly of a cilium found on many different cell types that is typically present in a single copy per cell; a primary cilium may have a variable array of axonemal microtubules and may or may not contain molecular motors" [GO:0072372] |
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Allelic Composition: Cc2d2atm1Asw/Cc2d2atm1Asw
Genetic Background: Not Specified
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| MP:0013205 | abnormal nonmotile primary cilium morphology | "any structural anomaly of a primary cilium which contains a variable array of axonemal microtubules but does not contain molecular motors; nonmotile primary cilia are found on many different cell types and function as sensory organelles that concentrate and organize sensory signaling molecules" [GO:0031513] |
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Allelic Composition: Cc2d2atm1Asw/Cc2d2atm1Asw
Genetic Background: Not Specified
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| MP:0013214 | decreased embryonic neuroepithelium primary cilium number | "reduced number of the primary non-motile microtubule-based structures of the embryonic neuroepithelium which are typically short and straight, project apically into the neural tube lumen, and play an essential role in Sonic hedgehog (Shh) signalling and neural tube patterning " [PMID:23351466] |
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Allelic Composition: Cc2d2atm1Asw/Cc2d2atm1Asw
Genetic Background: Not Specified
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