| MP:0000015 | abnormal ear pigmentation | "anomaly in the coloration of the ear" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator] |
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Allelic Composition: Ap3b1pe/Ap3b1pe,Hps1ep/Hps1ep
Genetic Background: involves: C3H/He * C3HeB/FeJ * C57BL/6J
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| MP:0000371 | diluted coat color | "a coat color that appears lighter in intensity or paler than normal" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator] |
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Allelic Composition: Tbx1tm1Pa/Tbx1tm1Pa
Genetic Background: involves: 129 * C57BL/6
Allelic Composition: Hps1ep/Hps1ep,Bloc1s6pa/Bloc1s6pa
Genetic Background: B6.Cg-Bloc1s6 Hps1ep
Allelic Composition: Hps1ep-7J/Hps1ep-7J
Genetic Background: CAST/EiJ-Hps1ep-7J/GrsrJ
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| MP:0001183 | overexpanded alveoli | "expanded volume of the saclike terminal dilation of the respiratory bronchioles" [J:66345] |
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Allelic Composition: Trp63tm1Brd/Trp63tm1Brd
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J
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| 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: Tbx1tm1Pa/Tbx1tm1Pa
Genetic Background: involves: 129 * C57BL/6
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| MP:0001570 | abnormal circulating enzyme level | "aberrent concentration in the blood of any of the proteins that act as catalysts for biological reactions" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator] |
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Allelic Composition: Tbx1tm1Pa/Tbx1tm1Pa
Genetic Background: involves: 129 * C57BL/6
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| MP:0001861 | lung inflammation | "local accumulation of fluid, plasma proteins, and leukocytes in the lung" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7] |
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Allelic Composition: Hps1ep/Hps1ep
Genetic Background: involves: C3HeB/FeJ * C57BL/6J
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| MP:0001958 | emphysema | "lung disease characterized by increased size of terminal bronchioles with destructive changes in their walls and reduction in number" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:33629] |
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Allelic Composition: Hps1ep/Hps1ep
Genetic Background: involves: C3HeB/FeJ * C57BL/6J
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| MP:0002136 | abnormal kidney physiology | "altered ability or inability to excrete urine, not due to anatomical defect" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator] |
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Allelic Composition: Tbx1tm1Pa/Tbx1tm1Pa
Genetic Background: involves: 129 * C57BL/6
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| MP:0002275 | abnormal type II pneumocyte morphology | "any structural anomaly of the epithelial cells lining the alveoli that produce surfactant " [Pathology , 2nd edition:ISBN 0-397-51047-0, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator] |
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Allelic Composition: Hps1ep/Hps1ep
Genetic Background: involves: C3HeB/FeJ * C57BL/6J
Allelic Composition: Hps1ep/Hps1ep
Genetic Background: B6.C3Fe-Hps1ep/J
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| MP:0002276 | abnormal lung interstitium morphology | "any structural anomaly of the lung tissue, but not including the conducting airways (bronchi, bronchioles, alveoli) " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Pathology , 2nd edition:ISBN 0-397-51047-0] |
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Allelic Composition: Hps1ep/Hps1ep
Genetic Background: involves: C3HeB/FeJ * C57BL/6J
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| MP:0002451 | abnormal macrophage physiology | "abnormal function or response of the phagocytic leukocytes involved in innate immunity, early non-adaptive phases of host-defense, antigen presentation, and which act as effector cells in humoral and cell-mediated immunity" [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator] |
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Allelic Composition: Tbx1tm1Pa/Tbx1tm1Pa
Genetic Background: involves: 129 * C57BL/6
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| MP:0002620 | abnormal monocyte morphology | "anomalous structure, number, or development of the white blood cells that are precursors to macrophages" [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator] |
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Allelic Composition: Hps1ep/Hps1ep
Genetic Background: involves: C3HeB/FeJ * C57BL/6J
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| MP:0003068 | enlarged kidney | "larger than average size of the kidney" [J:86005, pvb:Pierre Vanden Borre, Mouse Genome Informatics Curator] |
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Allelic Composition: Hps1ep/Hps1ep
Genetic Background: involves: C3HeB/FeJ * C57BL/6J
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| MP:0003172 | abnormal lysosome physiology | "ability of lysosomes to produce enzymes necessary for digestion of exogenous material is impaired" [llw2:Linda Washburn , Mouse Genome Informatics Curator] |
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Allelic Composition: Hps1ep/Hps1ep
Genetic Background: B6.C3Fe-Hps1ep/J
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| MP:0003174 | increased lysosomal enzyme secretion | "production of glycoprotein hydrolytic enzymes is increased compared to normal" [llw2:Linda Washburn , Mouse Genome Informatics Curator] |
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Allelic Composition: Hps1ep/Hps1ep
Genetic Background: B6.C3Fe-Hps1ep/J
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| MP:0004725 | decreased platelet serotonin level | "reduced concentration of serotonin in the platelets; this biochemical messenger and regulator, found in the CNS, gastrointestinal tract, and produced by platelets mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"] |
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Allelic Composition: Hps1ep/Hps1ep
Genetic Background: involves: C3HeB/FeJ * C57BL/6J
Allelic Composition: Hps1ep/Hps1ep
Genetic Background: B6.C3Fe-Hps1ep/J
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| MP:0005075 | abnormal melanosome morphology | "anomalous structure of these tissue-specific cytoplasmic organelles within which melanin pigments are synthesized and stored" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:5346] |
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Allelic Composition: Tbx1tm1Pa/Tbx1tm1Pa
Genetic Background: involves: 129 * C57BL/6
Allelic Composition: Hps1ep/Hps1ep
Genetic Background: involves: C3HeB/FeJ * C57BL/6J
Allelic Composition: Hps1ep/Hps1ep
Genetic Background: B6.C3Fe-Hps1ep/J
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| MP:0005100 | abnormal choroid pigmentation | "anomalous coloring of the thin, highly vascularized membrane covering most of the posterior of the eye between the retina and the sclera" [Stedman s Medical Dictionary:ISBN 0-683-40008-8] |
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Allelic Composition: Hps1ep/Hps1ep
Genetic Background: involves: C3HeB/FeJ * C57BL/6J
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| MP:0005101 | abnormal ciliary body pigmentation | "anomalous coloring of the thickened portion of the vascular tunic, which lies between the choroid and the iris" [Stedman s Medical Dictionary:ISBN 0-683-40008-8] |
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Allelic Composition: Hps1ep/Hps1ep
Genetic Background: involves: C3HeB/FeJ * C57BL/6J
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| MP:0005102 | abnormal iris pigmentation | "anomalous coloring of the adjustable membrane, composed of the stroma and pigmented epithelium, located just in front of the crystalline lens within the eye" [Stedman s Medical Dictionary:ISBN 0-683-40008-8] |
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Allelic Composition: Hps1ep/Hps1ep
Genetic Background: B6.C3Fe-Hps1ep/J
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| MP:0005172 | lack of eye pigmentation | "visual organs are devoid of coloring pigment in relation to control animals, usually resulting in a red or pink color" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:83500] |
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Allelic Composition: Tbx1tm1Pa/Tbx1tm1Pa
Genetic Background: involves: 129 * C57BL/6
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| MP:0005339 | increased susceptibility to atherosclerosis | "more likely than the norm to develop thickening and loss of elasticity of arterial walls, involving lipid deposition and thickening of intimal layers within arteries" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator] |
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Allelic Composition: Hps1ep/Hps1ep
Genetic Background: B6.C3Fe-Hps1ep/J
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| MP:0005464 | abnormal platelet physiology | "atypical response of the non-nucleated cells found in the blood and involved in blood coagulation" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003] |
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Allelic Composition: Hps1ep/Hps1ep
Genetic Background: involves: C3HeB/FeJ * C57BL/6J
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| MP:0005606 | increased bleeding time | "greater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, RGD:Rat Genome Database submission] |
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Allelic Composition: Hps1ep/Hps1ep
Genetic Background: involves: C3HeB/FeJ * C57BL/6J
Allelic Composition: Hps1ep/Hps1ep
Genetic Background: B6.C3Fe-Hps1ep/J
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| MP:0005630 | increased lung weight | "greater than the normal state of the physical heaviness of the lung" [RGD:Rat Genome Database submission] |
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Allelic Composition: Hps1ep/Hps1ep
Genetic Background: involves: C3HeB/FeJ * C57BL/6J
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| MP:0006382 | abnormal lung epithelium morphology | "any structural anomaly of the epithelial layer of the lung" [MGI:rbabiuk "Randall Babiuk, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"] |
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Allelic Composition: Hps1ep/Hps1ep
Genetic Background: involves: C3HeB/FeJ * C57BL/6J
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| MP:0009448 | decreased platelet ATP level | "reduced concentration of the major energy source adenosine triphosphate produced by dense bodies located in platelets" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"] |
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Allelic Composition: Hps1ep/Hps1ep
Genetic Background: involves: C3HeB/FeJ * C57BL/6J
Allelic Composition: Hps1ep/Hps1ep
Genetic Background: B6.C3Fe-Hps1ep/J
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| MP:0009557 | decreased platelet ADP level | "reduced concentration of the major energy source adenosine diphosphate produced by dense bodies located in platelets" [MGI:mberry "Melissa Berry, Genetics Resources Curator"] |
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Allelic Composition: Hps1ep/Hps1ep
Genetic Background: involves: C3HeB/FeJ * C57BL/6J
Allelic Composition: Hps1ep/Hps1ep
Genetic Background: B6.C3Fe-Hps1ep/J
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| MP:0009643 | abnormal urine homeostasis | "anomaly in the processes involved in the maintenance of an internal equilibrium of various functions and chemical or protein composition of the urine" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"] |
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Allelic Composition: Hps1ep/Hps1ep
Genetic Background: involves: C3HeB/FeJ * C57BL/6J
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| MP:0010766 | abnormal NK cell physiology | "any functional anomaly of a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells" [GOC:add, ISBN:0781735149, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", PMID:15771571] |
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Allelic Composition: Hps1ep/Hps1ep
Genetic Background: B6.C3Fe-Hps1ep/J
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| MP:0010815 | enlarged alveolar lamellar bodies | "increased size of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"] |
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Allelic Composition: Hps1ep/Hps1ep
Genetic Background: involves: C3HeB/FeJ * C57BL/6J
Allelic Composition: Ap3b1pe/Ap3b1pe,Hps1ep/Hps1ep
Genetic Background: involves: C3H/He * C3HeB/FeJ * C57BL/6J
Allelic Composition: Hps1ep/Hps1ep
Genetic Background: B6.C3Fe-Hps1ep/J
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| MP:0010922 | alveolitis | "inflammation of the small sac-like dilations of the distal airspace of the lung; acute pulmonary alveolitis involves exudate into the pulmonary alveoli and impaired gas exchange" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"] |
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Allelic Composition: Hps1ep/Hps1ep
Genetic Background: B6.C3Fe-Hps1ep/J
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| MP:0010950 | abnormal lung hysteresivity | "anomaly in the lung tissue property defined as the ratio of dissipated energy to stored energy over a respiratory cycle; it can be measured as the area enclosed by a pressure-volume loop of the lung, and is dependent on composition and microstructure of the tissue components such as the elastic connective tissue" [PMID:2606848] |
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Allelic Composition: Ap3b1pe/Ap3b1pe,Hps1ep/Hps1ep
Genetic Background: involves: C3H/He * C3HeB/FeJ * C57BL/6J
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| MP:0011086 | partial postnatal 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 anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith] |
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Allelic Composition: Hps1ep-7J/Hps1ep-7J
Genetic Background: CAST/EiJ-Hps1ep-7J/GrsrJ
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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: Hps1ep-7J/Hps1ep-7J
Genetic Background: CAST/EiJ-Hps1ep-7J/GrsrJ
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| MP:0011277 | decreased tail pigmentation | "visually detectable dilution of pigment present on the tail surface" [MGI:csmith] |
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Allelic Composition: Tbx1tm1Pa/Tbx1tm1Pa
Genetic Background: involves: 129 * C57BL/6
Allelic Composition: Hps1ep/Hps1ep
Genetic Background: B6.C3Fe-Hps1ep/J
Allelic Composition: Hps1ep-7J/Hps1ep-7J
Genetic Background: CAST/EiJ-Hps1ep-7J/GrsrJ
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| MP:0011279 | decreased ear pigmentation | "visually detectable dilution of pigment present in the outer ear" [MGI:csmith] |
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Allelic Composition: Tbx1tm1Pa/Tbx1tm1Pa
Genetic Background: involves: 129 * C57BL/6
Allelic Composition: Hps1ep/Hps1ep
Genetic Background: B6.C3Fe-Hps1ep/J
Allelic Composition: Hps1ep-7J/Hps1ep-7J
Genetic Background: CAST/EiJ-Hps1ep-7J/GrsrJ
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| MP:0020432 | decreased platelet dense granule number | "decreased number of the electron-dense bodies occurring in blood platelets that store and secrete adenosine nucleotides and serotonin" [orcid.org/0000-0003-4606-0597] |
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Allelic Composition: Hps1ep/Hps1ep
Genetic Background: involves: C3HeB/FeJ * C57BL/6J
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