MP:0000160 | kyphosis | "forward curvature of the spine, characterized by extensive flexion. " [J:62023, J:66943, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator] |
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Allelic Composition: Cep290Gt(CC0582)Wtsi/Cep290Gt(CC0582)Wtsi Genetic Background: 129P2/OlaHsd-Cep290Gt(CC0582)Wtsi
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MP:0000745 | tremors | "repetitive, cyclical movements of the body or a body part; usually involuntary, but can also manifest in response to an attempt at movement" [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: Whrnhb/Whrnhb Genetic Background: involves: BALB/c * C3H/HeH * C57BL/6J
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MP:0000876 | Purkinje cell degeneration | "a retrogressive impairment of function or destruction of the large neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex" [J:46854] |
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Allelic Composition: Cep290Gt(CC0582)Wtsi/Cep290Gt(CC0582)Wtsi Genetic Background: 129P2/OlaHsd-Cep290Gt(CC0582)Wtsi
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MP:0000938 | motor neuron degeneration | "retrogressive impairment of function or destruction of the cells that innervate an effector (muscle or glandular) tissue" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator] |
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Allelic Composition: Cep290Gt(CC0582)Wtsi/Cep290Gt(CC0582)Wtsi Genetic Background: 129P2/OlaHsd-Cep290Gt(CC0582)Wtsi
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MP:0001262 | decreased body weight | "lower than normal average weight " [J:61295] |
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Allelic Composition: Cep290Gt(CC0582)Wtsi/Cep290Gt(CC0582)Wtsi Genetic Background: 129P2/OlaHsd-Cep290Gt(CC0582)Wtsi
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MP:0001393 | ataxia | "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231] |
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Allelic Composition: Cep290Gt(CC0582)Wtsi/Cep290Gt(CC0582)Wtsi Genetic Background: 129P2/OlaHsd-Cep290Gt(CC0582)Wtsi
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MP:0001405 | impaired coordination | "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8] |
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Allelic Composition: Cep290Gt(CC0582)Wtsi/Cep290Gt(CC0582)Wtsi Genetic Background: 129P2/OlaHsd-Cep290Gt(CC0582)Wtsi
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MP:0001406 | abnormal gait | "unusual or distinctive way of walking" [J:65038] |
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Allelic Composition: Cep290Gt(CC0582)Wtsi/Cep290Gt(CC0582)Wtsi Genetic Background: 129P2/OlaHsd-Cep290Gt(CC0582)Wtsi
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MP:0001504 | abnormal posture | "atypical position of the limbs or carriage of the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:18984] |
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Allelic Composition: Cep290Gt(CC0582)Wtsi/Cep290Gt(CC0582)Wtsi Genetic Background: 129P2/OlaHsd-Cep290Gt(CC0582)Wtsi
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MP:0002175 | low brain weight | "lower than average weight of the brain" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator] |
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Allelic Composition: Cep290Gt(CC0582)Wtsi/Cep290Gt(CC0582)Wtsi Genetic Background: 129P2/OlaHsd-Cep290Gt(CC0582)Wtsi
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MP:0002946 | delayed axon outgrowth | "an increased amount of time required for an axon to extend from a neuron cell body and find the target" [J:77048, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator] |
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Allelic Composition: Cep290Gt(CC0582)Wtsi/Cep290Gt(CC0582)Wtsi Genetic Background: 129P2/OlaHsd-Cep290Gt(CC0582)Wtsi
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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: Cep290Gt(CC0582)Wtsi/Cep290Gt(CC0582)Wtsi Genetic Background: 129P2/OlaHsd-Cep290Gt(CC0582)Wtsi
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MP:0003354 | astrocytosis | "a proliferation or spread of astrocytes in the area of a degenerative lesion or damaged tissue" [MeSH:National Library of Medicine - Medical Subject Headings , 2003] |
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Allelic Composition: Cep290Gt(CC0582)Wtsi/Cep290Gt(CC0582)Wtsi Genetic Background: 129P2/OlaHsd-Cep290Gt(CC0582)Wtsi
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MP:0005058 | abnormal lysosome morphology | "anomalous structure of any of the cytoplasmic, membrane bound vesicles that contain a variety of hydrolases" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator] |
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Allelic Composition: Cep290Gt(CC0582)Wtsi/Cep290Gt(CC0582)Wtsi Genetic Background: 129P2/OlaHsd-Cep290Gt(CC0582)Wtsi
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MP:0005405 | axon degeneration | "retrogressive pathologic change in the single process of a nerve cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8] |
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Allelic Composition: Cep290Gt(CC0582)Wtsi/Cep290Gt(CC0582)Wtsi Genetic Background: 129P2/OlaHsd-Cep290Gt(CC0582)Wtsi
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MP:0006325 | impaired hearing | "reduced ability to percieve auditory stimuli" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"] |
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Allelic Composition: Whrnhb/Whrnhb Genetic Background: involves: BALB/c * C3H/HeH * C57BL/6J
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MP:0010386 | abnormal urinary bladder physiology | "any functional anomaly of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"] |
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Allelic Composition: Cep290Gt(CC0582)Wtsi/Cep290Gt(CC0582)Wtsi Genetic Background: 129P2/OlaHsd-Cep290Gt(CC0582)Wtsi
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MP:0011874 | enlarged urinary bladder | "increased size of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys" [MGI:Colin_McKerlie] |
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Allelic Composition: Cep290Gt(CC0582)Wtsi/Cep290Gt(CC0582)Wtsi Genetic Background: 129P2/OlaHsd-Cep290Gt(CC0582)Wtsi
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MP:0011967 | increased or absent threshold for auditory brainstem response | "increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency or broadband click" [MGI:csmith] |
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Allelic Composition: Smarcd2tm1.1(KOMP)Vlcg/Smarcd2+ Genetic Background: C57BL/6N-Smarcd2tm1.1(KOMP)Vlcg/Ucd
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MP:0012506 | brain atrophy | "acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [MGI:anna] |
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Allelic Composition: Cep290Gt(CC0582)Wtsi/Cep290Gt(CC0582)Wtsi Genetic Background: 129P2/OlaHsd-Cep290Gt(CC0582)Wtsi
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