MP:0000150 | abnormal rib morphology | "malformed bones forming the bony wall of the chest" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:50311] |
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Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss
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MP:0000297 | abnormal endocardial cushion morphology | "malformation of the mounds of embryonic connective tissue that bulge into the embryonic atrioventricular canal; these mounds eventually fuse to form the valves between the right and left atrioventricular orifices" [Stedman s Medical Dictionary:ISBN 0-683-40008-8] |
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Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss
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MP:0000378 | absent hair follicles | "missing epidermal invaginations from which the hair shaft develops" [J:65039] |
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Allelic Composition: Taar1tm1(KOMP)Vlcg/Taar1tm1(KOMP)Vlcg Genetic Background: involves: C57BL/6NTac
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MP:0000380 | small hair follicles | "reduced size of the invagination of the epidermis from which the hair shaft develops" [J:56777] |
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Allelic Composition: Taar1tm1(KOMP)Vlcg/Taar1tm1(KOMP)Vlcg Genetic Background: involves: C57BL/6NTac
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MP:0000382 | underdeveloped hair follicles | "arrest of or retarded differentiation of the epidermal invaginations from which the hair shaft develops" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61790] |
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Allelic Composition: Taar1tm1(KOMP)Vlcg/Taar1tm1(KOMP)Vlcg Genetic Background: involves: C57BL/6NTac
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MP:0000452 | abnormal mouth morphology | "anomalous structure or development of the oral cavity" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator] |
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Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss
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MP:0000454 | abnormal jaw morphology | "malformation of the bony framework of the mouth where the teeth are held" [Stedman s Medical Dictionary:ISBN 0-683-40008-8] |
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Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss
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MP:0000762 | abnormal tongue morphology | "anomalous structure or development of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor" [Stedman s Medical Dictionary:ISBN 0-683-40008-8] |
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Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss
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MP:0001175 | abnormal lung morphology | "malformed organ of respiration" [J:35802] |
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Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss
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MP:0001575 | cyanosis | "a dark bluish or purple skin discoloration resulting from deficient oxygenation of the blood" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60159] |
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Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss
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MP:0001614 | abnormal vasculature | "anomalies in the structure of development of the network of tubes that carries blood through the body" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator] |
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Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss
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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: Ryr2tm1.1Swch/Ryr2tm2.1Swch Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss
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MP:0002233 | abnormal nose morphology | "any structural anomaly of the organ that is specialized for smell and is part of the respiratory system " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003] |
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Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss
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MP:0002239 | abnormal nasal septum morphology | "any structural anomaly of the structure that separates the two nasal cavities " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003] |
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Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss
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MP:0002243 | abnormal vomeronasal organ morphology | "any structural anomaly of the specialized portion of the nasal septum that is composed of chemosensitive cells and lies anteriorly in the nasal cavity " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003] |
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Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss
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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: Ryr2tm1.1Swch/Ryr2tm2.1Swch Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss
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MP:0002639 | micrognathia | "abnormally reduced size of the jaws, especially of the mandible" [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: Ryr2tm1.1Swch/Ryr2tm2.1Swch Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss
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MP:0002656 | abnormal keratinocyte differentiation | "developmental anomaly of the cells of the epidermis that produce keratin in the process of differentiating into the dead and fully keratinized cells of the stratum corneum
" [Stedman s Medical Dictionary:ISBN 0-683-40008-8] |
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Allelic Composition: Taar1tm1(KOMP)Vlcg/Taar1tm1(KOMP)Vlcg Genetic Background: involves: C57BL/6NTac
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MP:0003052 | omphalocele | "protrusion of abdominal viscera at the base of the umbilical cord, with a covering membranous sac of peritoneum-amnion" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings, 2003, ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator] |
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Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss
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MP:0003105 | abnormal heart atrium morphology | "structural anomaly of one or both of the two upper chambers of the heart " [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator] |
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Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss
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MP:0003704 | abnormal hair follicle development | "anomalous development of the epidermis from which the hair shaft develops " [monikat:Monika Tomczuk, Mouse Genome Informatics Curator] |
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Allelic Composition: Taar1tm1(KOMP)Vlcg/Taar1tm1(KOMP)Vlcg Genetic Background: involves: C57BL/6NTac
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MP:0003755 | abnormal palate | "anomaly in the roof of the mouth in vertebrates formed anteriorly by a bony projection of the upper jaw (hard palate) and posteriorly by the fold of connective tissue (soft palate) " [ncbi:Matthew Mailman, NCBI request] |
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Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss
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MP:0004113 | abnormal aortic arch morphology | "structural anomoly of the portion of the descending aorta proceeding from the arch of the aorta and extending to the diaphragm " [MeSH:National Library of Medicine - Medical Subject Headings , 2003] |
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Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss
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MP:0004159 | double aortic arch | "defect in which the main aorta tube splits into large left and right branches (right and left aortic arches), encircling the trachea and esophagus, before becoming one tube to go to the lower body " [monikat:Monika Tomczuk, Mouse Genome Informatics Curator] |
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Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss
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MP:0004592 | small mandible | "reduced size of the lower bony framework of the mouth where the inferior teeth are held" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"] |
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Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss
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MP:0004880 | lung cysts | |
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Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss
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MP:0005358 | abnormal incisor morphology | "structural defect of the long pointed teeth; most anterior and prominent in the jaw" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:85574] |
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Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss
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MP:0006197 | ocular hypotelorism | "the distance between the eyes is reduced" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator] |
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Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss
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MP:0009584 | decreased keratinocyte proliferation | "reduction in the expansion rate of keratinocytes by cell division" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"] |
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Allelic Composition: Taar1tm1(KOMP)Vlcg/Taar1tm1(KOMP)Vlcg Genetic Background: involves: C57BL/6NTac
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MP:0009905 | absent tongue | "absence of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"] |
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Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss
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MP:0009907 | decreased tongue size | "reduced size of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"] |
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Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss
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MP:0010146 | umbilical hernia | "an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator", PMID:20333300] |
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Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss
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MP:0010458 | pulmonary trunk hypoplasia | "underdevelopment or reduced size of the region of the pulmonary artery that arises from the right ventricle to the division of the right and left pulmonary artery, usually due to reduced cell number" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"] |
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Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss
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MP:0010853 | abnormal lung position or orientation | "the lung is displaced from the normal position and/or has an altered left/right orientation" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"] |
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Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss
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MP:0011087 | complete neonatal lethality | "death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith] |
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Allelic Composition: Taar1tm1(KOMP)Vlcg/Taar1tm1(KOMP)Vlcg Genetic Background: involves: C57BL/6NTac
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MP:0011090 | partial perinatal lethality | "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith] |
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Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss
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MP:0011250 | abdominal situs ambiguus | "an abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements" [MGI:csmith, PMID:18039396] |
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Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss
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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: Ryr2tm1.1Swch/Ryr2tm2.1Swch Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss
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MP:0011683 | dual inferior vena cava | "presence of two inferior vena cavae, often resulting from the persistence of both supracardinal veins during development; the two structures may be symmetric or asymmetric but typically join together at the renal vein" [MGI:csmith, PMID:10835118] |
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Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss
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MP:0012085 | midface hypoplasia | "underdevelopment of the midfacial region comprising the nasal, maxillary, and zygomatic bones, leading to a concave-looking face" [MGI:anna] |
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Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss
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MP:0012285 | misaligned sternebrae | "abnormal alignment of the sternebrae along the ventral midline" [MGI:anna] |
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Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss
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