MP:0000278 | abnormal myocardial fiber morphology | "malformed or poorly developed cardiac muscle fibers, the multinucleated muscle cells of the heart" [J:18048] |
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Allelic Composition: Ap3b1pe-15J/Ap3b1pe-15J Genetic Background: C3(SW)-H2b Ap3b1pe-15J/GrsrJ
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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: Ccnd1tm1Phin/Ccnd1tm1Phin Genetic Background: involves: 129S4/SvJae * C57BL/6
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MP:0000607 | abnormal hepatocyte morphology | "malformation of the main structural component of the liver; these are specialized epithelial cells normally organize into interconnected plates called lobules" [J:23170, MeSH:National Library of Medicine - Medical Subject Headings , 2003] |
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Allelic Composition: Ccnd1tm1Phin/Ccnd1tm1Phin Genetic Background: involves: 129S4/SvJae * C57BL/6
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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: Vps54wr/Vps54wr Genetic Background: multiple strains
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MP:0000747 | muscle weakness | "loss of muscle strength" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator] |
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Allelic Composition: Vps54wr/Vps54wr Genetic Background: multiple strains
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MP:0000748 | progressive muscle weakness | "increasing loss of strength over time" [MGI:CLS, J:67994] |
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Allelic Composition: Vps54wr/Vps54wr Genetic Background: involves: C57BL/6J * C57BL/Fa
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MP:0000756 | forelimb paralysis | "loss of power of voluntary movement in muscles of the forlimb through injury or disease of it or its nerve supply" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8] |
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Allelic Composition: Vps54wr/Vps54wr Genetic Background: multiple strains
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MP:0000920 | abnormal myelination | "atypical or altered myelination in axon sheaths" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator] |
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Allelic Composition: Vps54wr/Vps54wr Genetic Background: multiple strains
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MP:0000921 | demyelination | "loss of the myelin sheath without loss of axons or fiber tracts" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator] |
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Allelic Composition: Vps54wr/Vps54wr Genetic Background: multiple strains
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MP:0000937 | abnormal motor neuron morphology | "malformation or absence of cells that innervate an effector (muscle or glandular) tissue; responsible for transmission of motor impulses" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159] |
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Allelic Composition: Vps54wr/Vps54wr Genetic Background: multiple strains
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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: Vps54wr/Vps54wr Genetic Background: multiple strains
Allelic Composition: Vps54wr/Vps54wr Genetic Background: involves: C57BL/6J * C57BL/Fa
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MP:0000956 | reduced spinal cord size | "smaller appearance of the spinal cord" [J:35802] |
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Allelic Composition: Ap3b1pe-15J/Ap3b1pe-15J Genetic Background: C3(SW)-H2b Ap3b1pe-15J/GrsrJ
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MP:0001077 | abnormal spinal nerve morphology | "any anomaly, deformity, or malformation of the any of the 31 paired peripheral nerves formed by the union of the dorsal and ventral spinal roots from each spinal cord segment" [MeSH:National Library of Medicine - Medical Subject Headings , 2003] |
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Allelic Composition: Vps54wr/Vps54wr Genetic Background: multiple strains
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MP:0001262 | decreased body weight | "lower than normal average weight " [J:61295] |
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Allelic Composition: Ap3b1pe-15J/Ap3b1pe-15J Genetic Background: C3(SW)-H2b Ap3b1pe-15J/GrsrJ
Allelic Composition: Vps54wr/Vps54wr Genetic Background: multiple strains
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MP:0001406 | abnormal gait | "unusual or distinctive way of walking" [J:65038] |
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Allelic Composition: Vps54wr/Vps54wr Genetic Background: multiple strains
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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: Ccnd1tm1Phin/Ccnd1tm1Phin Genetic Background: involves: 129S4/SvJae * C57BL/6
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MP:0001513 | limb grasping | "mice clasp front and/or hind feet almost immediately upon being lifted by tail" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator] |
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Allelic Composition: Ccnd1tm1Phin/Ccnd1tm1Phin Genetic Background: involves: 129S4/SvJae * C57BL/6
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MP:0001515 | abnormal grip strength | "altered ability to grasp and hold objects, usually measured as time spent hanging from an object or wire" [J:80661] |
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Allelic Composition: Ccnd1tm1Phin/Ccnd1tm1Phin Genetic Background: involves: 129S4/SvJae * C57BL/6
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MP:0001924 | infertility | "inability to produce live offspring" [J:47225] |
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Allelic Composition: Vps54wr/Vps54wr Genetic Background: multiple strains
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MP:0001929 | abnormal gametogenesis | "defective formation or differentiation of germ cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:42324] |
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Allelic Composition: Ccnd1tm1Phin/Ccnd1tm1Phin Genetic Background: involves: 129S4/SvJae * C57BL/6
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MP:0002083 | premature death | "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator] |
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Allelic Composition: Ccnd1tm1Phin/Ccnd1tm1Phin Genetic Background: involves: 129S4/SvJae * C57BL/6
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MP:0002106 | abnormal muscle physiology | "anomolous function of the muscle, not due to an anatomical defect" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator] |
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Allelic Composition: Ccnd1tm1Phin/Ccnd1tm1Phin Genetic Background: involves: 129S4/SvJae * C57BL/6
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MP:0002182 | abnormal astrocyte morphology | "anomalous structure, number or compostion of one of the large neuroglia cells of nervous tissue" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator] |
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Allelic Composition: Vps54wr/Vps54wr Genetic Background: multiple strains
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MP:0002183 | gliosis | "increased growth pattern of neuroglia in a damaged area of the brain or spinal cord" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator] |
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Allelic Composition: Vps54wr/Vps54wr Genetic Background: multiple strains
Allelic Composition: Vps54wr/Vps54wr Genetic Background: involves: C57BL/6J * C57BL/Fa
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MP:0002206 | abnormal CNS synaptic transmission | "defect in the communication from a neuron to a target across a synapse in the central nervous system" [MeSH:National Library of Medicine - Medical Subject Headings , 2003] |
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Allelic Composition: Vps54wr/Vps54wr Genetic Background: multiple strains
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MP:0002269 | muscular atrophy | "a wasting of muscle tissue resulting in a derangement of the muscle fibers; occurs with age, immobilization, weightlessness, malnutrition or denervation" [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: Vps54wr/Vps54wr Genetic Background: multiple strains
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MP:0002651 | abnormal sciatic nerve | "malformation, absence or misprojection of the nerve which originates in the lumbar and sacral spinal cord (L4 to S3) and supplies motor and sensory innervation to the lower extremity" [MeSH:National Library of Medicine - Medical Subject Headings , 2003] |
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Allelic Composition: Vps54wr/Vps54wr Genetic Background: multiple strains
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MP:0002675 | asthenozoospermia | "loss or reduction of the mobility of the spermatozoa, frequently associated with infertility" [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: Vps54wr/Vps54wr Genetic Background: multiple strains
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MP:0002686 | globozoospermia | "malformation of the acrosome resulting in a round sperm head" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:57312] |
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Allelic Composition: Vps54wr/Vps54wr Genetic Background: multiple strains
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MP:0002687 | oligozoospermia | "reduced concentration of spermatozoa " [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:57312] |
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Allelic Composition: Vps54wr/Vps54wr Genetic Background: multiple strains
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MP:0002945 | abnormal inhibitory postsynaptic currents | "defect in the size or duration of currents detected in postsynaptic cells when an inhibitory impulse arrives at the synapse causing hyperpolarization" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3] |
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Allelic Composition: Vps54wr/Vps54wr Genetic Background: involves: C57BL/6J * C57BL/Fa
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MP:0003084 | abnormal skeletal muscle fiber morphology | "anomalous structure of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles" [smb:Susan M. Bello, Mouse Genome Informatics Curator, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8] |
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Allelic Composition: Vps54wr/Vps54wr Genetic Background: multiple strains
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MP:0003245 | abnormal GABA neuron morphology | "malformation or absence of the neurons that utilize gamma-aminobutyric acid as a neurotransmitter " [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3] |
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Allelic Composition: Vps54wr/Vps54wr Genetic Background: involves: C57BL/6J * C57BL/Fa
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MP:0003371 | decreased circulating estrogen level | "reduction in the blood concentration of any substance that causes development of the female reproductive organs and secondary sexual characteristics" [ncbi:Matthew Mailman, NCBI request] |
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Allelic Composition: Vps54wr/Vps54wr Genetic Background: multiple strains
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MP:0003632 | abnormal nervous system morphology | |
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Allelic Composition: Vps54wr/Vps54wr Genetic Background: multiple strains
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MP:0003633 | abnormal nervous system physiology | |
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Allelic Composition: Vps54wr/Vps54wr Genetic Background: multiple strains
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MP:0003806 | abnormal nucleotide metabolism | "impaired regulation of nucleotide levels in either production or breakdown of these structural components of nucleic acids" [MeSH:National Library of Medicine - Medical Subject Headings , 2003] |
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Allelic Composition: Vps54wr/Vps54wr Genetic Background: multiple strains
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MP:0003984 | embryonic growth retardation | "slow or limited development before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator] |
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Allelic Composition: Ap3b1pe-15J/Ap3b1pe-15J Genetic Background: C3(SW)-H2b Ap3b1pe-15J/GrsrJ
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MP:0004008 | abnormal GABA receptor currents | "change in the measured amplitude or duration of response to stimulation of GABA receptors" [smb:Susan M Bello, Mouse Genome Informatics Curator] |
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Allelic Composition: Vps54wr/Vps54wr Genetic Background: involves: C57BL/6J * C57BL/Fa
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MP:0004768 | abnormal axonal transport | "any functional anomaly of the directed movement of organelles or vesicles along microtubules in nerve cell axons" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"] |
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Allelic Composition: Vps54wr/Vps54wr Genetic Background: multiple strains
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MP:0004852 | decreased testis weight | "reduced average weight of the male reproductive glands" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"] |
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Allelic Composition: Vps54wr/Vps54wr Genetic Background: multiple strains
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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: Vps54wr/Vps54wr Genetic Background: multiple strains
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MP:0006411 | upturned snout | "muzzle has a curve or tilt such that the tip points upwards" [MGI:brs "Beverly Richards-Smith, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"] |
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Allelic Composition: Vps54wr/Vps54wr Genetic Background: multiple strains
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MP:0008460 | absent dorsal root ganglion | "absence of the groups of sensory nerve cell bodies located on the dorsal spinal roots within the vertebral column" [MESH:A08.340.390.340, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"] |
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Allelic Composition: Ap3b1pe-15J/Ap3b1pe-15J Genetic Background: C3(SW)-H2b Ap3b1pe-15J/GrsrJ
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MP:0008571 | abnormal synaptic bouton morphology | "any structural anomaly of the knoblike enlargements along the course of axons, or more commonly at the distal terminations of axons which are specialized for the release of neurotransmitters" [MESH:A08.663.542.145.750] |
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Allelic Composition: Vps54wr/Vps54wr Genetic Background: involves: C57BL/6J * C57BL/Fa
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MP:0009435 | abnormal miniature inhibitory postsynaptic currents | "defect in the size or duration of spontaneous currents detected in postsynaptic cells that occur in the absence of an inhibitory impulse" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"] |
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Allelic Composition: Vps54wr/Vps54wr Genetic Background: involves: C57BL/6J * C57BL/Fa
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MP:0010053 | decreased grip strength | "reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire" [ISBN:0471316393 "Crawley, JN, What s Wrong with my Mouse: Behavioral Phenotyping of Transgenic and Knockout Mice"] |
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Allelic Composition: Ap3b1pe-15J/Ap3b1pe-15J Genetic Background: C3(SW)-H2b Ap3b1pe-15J/GrsrJ
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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: Ap3b1pe-15J/Ap3b1pe-15J Genetic Background: C3(SW)-H2b Ap3b1pe-15J/GrsrJ
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MP:0011987 | abnormal GABAergic neuron physiology | "any functional anomaly of the neurons that utilize gamma-aminobutyric acid as a neurotransmitter" [PMID:8787741] |
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Allelic Composition: Vps54wr/Vps54wr Genetic Background: involves: C57BL/6J * C57BL/Fa
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MP:0020448 | increased microglial cell activation | "increase in the change in morphology and behavior of a microglial cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, during the maturation to the fully active phagocytic form" [GO:0001774] |
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Allelic Composition: Vps54wr/Vps54wr Genetic Background: involves: C57BL/6J * C57BL/Fa
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MP:0030140 | facial muscle atrophy | "acquired diminution of facial muscle tissue 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; occurs with age, immobilization, weightlessness, malnutrition or denervation" [MGI:anna] |
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Allelic Composition: Vps54wr/Vps54wr Genetic Background: multiple strains
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