ENSMUSG00000001751


Mus musculus

Features
Gene ID: ENSMUSG00000001751
  
Biological name :Naglu
  
Synonyms : alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB) / Naglu
  
Possible biological names infered from orthology : N-acetyl-alpha-glucosaminidase / P54802
  
Species: Mus musculus
  
Chr. number: 11
Strand: 1
Band: D
Gene start: 101070012
Gene end: 101077672
  
Corresponding Affymetrix probe sets: 10381211 (MoGene1.0st)   1417706_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000001802
NCBI entrez gene - 27419     See in Manteia.
MGI - MGI:1351641
RefSeq - NM_013792
RefSeq - XM_006533465
RefSeq Peptide - NP_038820
swissprot - O88325
Ensembl - ENSMUSG00000001751
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 nagluENSDARG00000030156Danio rerio
 NAGLUENSGALG00000032610Gallus gallus
 NAGLUENSG00000108784Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR007781  Alpha-N-acetylglucosaminidase
 IPR024240  Alpha-N-acetylglucosaminidase, N-terminal
 IPR024732  Alpha-N-acetylglucosaminidase, C-terminal
 IPR024733  Alpha-N-acetylglucosaminidase, tim-barrel domain
 IPR029018  Beta-hexosaminidase-like, domain 2


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007040 lysosome organization IMP
 biological_processGO:0021680 cerebellar Purkinje cell layer development IMP
 biological_processGO:0042474 middle ear morphogenesis IMP
 biological_processGO:0045475 locomotor rhythm IMP
 biological_processGO:0046548 retinal rod cell development IMP
 biological_processGO:0060119 inner ear receptor cell development IMP
 cellular_componentGO:0070062 extracellular exosome IEA


Pathways (from Reactome)
Pathway description
HS-GAG degradation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000026 abnormal inner ear morphology "malformation or malfunction of any components of the labyrinth, including the semicircular canals, vestibule and cochlea" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:1776]
Show

Allelic Composition: Naglutm1Efn/Naglutm1Efn
Genetic Background: involves: 129S/SvEv * C57BL/6J

 MP:0000031 abnormal cochlea morphology "any anomaly, deformity, malformation, impairment or dysfunction of the cochlea" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator, J:21484]
Show

Allelic Composition: Naglutm1Efn/Naglutm1Efn
Genetic Background: involves: 129S/SvEv * C57BL/6J

 MP:0000034 abnormal vestibule morphology "malformed cavity between the semicircular canals and the cochlea of the inner ear" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:1776]
Show

Allelic Composition: Naglutm1Efn/Naglutm1Efn
Genetic Background: involves: 129S/SvEv * C57BL/6J

 MP:0000042 abnormal organ of Corti "abnormalities associated with the highly specialized epithelium in the floor of the ductus cochlearis; also referred to a spiral organ (organum spirale), or acoustic papilla" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Naglutm1Efn/Naglutm1Efn
Genetic Background: involves: 129S/SvEv * C57BL/6J

 MP:0000043 organ of Corti degeneration "a retrogressive impairment of function or destruction of the highly specialized epithelium in the floor of the ductus cochlearis" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Naglutm1Efn/Naglutm1Efn
Genetic Background: involves: 129S/SvEv * C57BL/6J

 MP:0000049 abnormal middle ear morphology "malformation or malfunction of any components of the tympanic cavity or its ossicles" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Naglutm1Efn/Naglutm1Efn
Genetic Background: involves: 129S/SvEv * C57BL/6J

 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]
Show

Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0000788 abnormal cerebral cortex morphology "malformed gray cellular mantle covering the surface of the brain" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:38857]
Show

Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

Allelic Composition: Naglutm1Efn/Naglutm1Efn
Genetic Background: either: (involves: 129S/SvEv * C57BL/6) or (involves: C57BL/6)

 MP:0000818 abnormal amygdala morphology "any malformation or absence of the almond-shaped body of basal nuclei anterior to the inferior horn of the lateral ventricle of the brain, within the temporal lobe; this area is involved in aggression and fear responses" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0000819 abnormal olfactory bulb morphology "malformation or absence of the forebrain region that coordinates neuronal signaling involved in the perception of smell; it receives input from the sensory neurons and outputs to the olfactory cortex" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, Principles of Neural Science:ISBN 0-8385-8034-3, J:16461]
Show

Allelic Composition: Naglutm1Efn/Naglutm1Efn
Genetic Background: either: (involves: 129S/SvEv * C57BL/6) or (involves: C57BL/6)

 MP:0000830 abnormal diencephalon morphology "any malformation or absence of the paired caudal parts of the prosencephalon from which the thalamus, hypothalamus, epithalamus and subthalamus are derived; these regions regulate autonomic, visceral and endocrine function, and process information directed to the cerebral cortex" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0000848 abnormal pons "malformed band of nerve fibers in the brain connecting the medulla oblongata and the mesencephalon; this region conveys information about movement from the cerebral hemisphere to the cerebellum" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:1776, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Naglutm1Efn/Naglutm1Efn
Genetic Background: either: (involves: 129S/SvEv * C57BL/6) or (involves: C57BL/6)

 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]
Show

Allelic Composition: Naglutm1Efn/Naglutm1Efn
Genetic Background: involves: 129S/SvEv * C57BL/6J

 MP:0000877 abnormal Purkinje cell "any structural anomaly of the neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex; these inhibitory neurons provide the output of the cerebellar cortex through axons that project into the white matter, and extensive dendritic trees from the Purkinje cells extend upward in a single plane into the molecular layer where they synapse with parallel fibers of granule cells" [J:46140, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0000880 decreased Purkinje cell number "fewer than normal neuronal cells that are located in the interface of the molecular and granular layers of the cerebellar cortex" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:45302]
Show

Allelic Composition: Naglutm1Efn/Naglutm1Efn
Genetic Background: involves: 129S/SvEv * C57BL/6J

 MP:0000897 abnormal midbrain "malformation or malfunction associated with the middle of the three cerebral vesicles of the embryo; this region controls sensory and motor functions, including eye movement and coordination of auditory and visual reflexes" [J:23882, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0001209 spontaneous skin ulceration "unpredictable appearance of skin lesions, usually with inflammation" [J:65302]
Show

Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0001263 weight loss "progressive reduction of body weight below normal average for age" [J:45400]
Show

Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0001270 distended abdomen "abdomen appears curved outward or swollen; can be due to skeletal axial defects, enlarged visceral organs or megacolon" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 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]
Show

Allelic Composition: Naglutm1Efn/Naglutm1Efn
Genetic Background: involves: 129S/SvEv * C57BL/6J

 MP:0001363 increased anxiety-related response "when compared to controls, subjects exhibit more responses thought to be indicative of anxiety in behavioral tests" [cwg:Carroll-Ann W. Goldsmith, Mouse Genome Informatics curator, J:49752, J:53060]
Show

Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0001392 abnormal locomotor activity "altered ability or inability to move from place to place" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 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]
Show

Allelic Composition: Naglutm1Efn/Naglutm1Efn
Genetic Background: involves: 129S/SvEv * C57BL/6J

 MP:0001511 disheveled coat "coat that looks generally unkempt" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0001850 otitis media "middle ear inflammation" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60896]
Show

Allelic Composition: Naglutm1Efn/Naglutm1Efn
Genetic Background: involves: 129S/SvEv * C57BL/6J

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

Allelic Composition: Naglutm1Efn/Naglutm1Efn
Genetic Background: involves: 129S/SvEv * C57BL/6J

 MP:0002446 abnormal macrophage morphology "anomalous structure, number, or composition of the large mononuclear phagocytic cells found in most tissues of the body" [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0002698 abnormal sclera morphology "structural anomaly of the fibrous, outer envelope of the eyeball, covering it entirely excepting the segment covered anteriorly by the cornea " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Naglutm1Efn/Naglutm1Efn
Genetic Background: involves: 129S/SvEv * C57BL/6J

 MP:0002882 abnormal neuron "anomaly in the functional cells of the nervous system that receive, conduct, and transmit impulses " [MeSH:National Library of Medicine - Medical Subject Headings, 2003]
Show

Allelic Composition: Naglutm1Efn/Naglutm1Efn
Genetic Background: either: (involves: 129S/SvEv * C57BL/6) or (involves: C57BL/6)

 MP:0003460 decreased fear-related response "reduced emotional response related to anticipation of specific pain or danger" [CFG:Center for Functional Genomics, Northwestern University]
Show

Allelic Composition: Naglutm1Efn/Naglutm1Efn
Genetic Background: either: (involves: 129S/SvEv * C57BL/6) or (involves: C57BL/6)

 MP:0003622 incomplete emptying of bladder "upon urination, some urine is retained in the bladder instead of being excreted" [ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Naglutm1Efn/Naglutm1Efn
Genetic Background: either: (involves: 129S/SvEv * C57BL/6) or (involves: C57BL/6)

 MP:0004021 abnormal rod electrophysiology "anomaly in the function of dark adapted vision mediated by the rods" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Naglutm1Efn/Naglutm1Efn
Genetic Background: involves: 129S/SvEv * C57BL/6J

 MP:0004249 abnormal crista ampullaris morphology "anomaly in the elevation found on the inner surface of the ampullae of each semicircular duct; filaments of the vestibular nerve pass through the crista to reach hair cells on its surface; the hair cells are capped by the cupula, a gelatinous protein-polysaccharide mass" [J:60193, MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Naglutm1Efn/Naglutm1Efn
Genetic Background: involves: 129S/SvEv * C57BL/6J

 MP:0004287 abnormal spiral limbus morphology "any structural abnormality in the border of the spiral lamina, i.e. the thickened periosteum covering the upper plate of the bony spiral lamina of the cochlea" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Naglutm1Efn/Naglutm1Efn
Genetic Background: involves: 129S/SvEv * C57BL/6J

 MP:0004288 abnormal spiral ligament morphology "any structural abnormality in the thickened periosteal lining of the bony cochlea that forms the outer wall of the cochlear duct to which the basal lamina attaches" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Naglutm1Efn/Naglutm1Efn
Genetic Background: involves: 129S/SvEv * C57BL/6J

 MP:0004408 decreased cochlear hair cell number "decreased number of the sensory epithelial cells of the cochlea, which are normally in synaptic contact with the auditory nerve" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Naglutm1Efn/Naglutm1Efn
Genetic Background: involves: 129S/SvEv * C57BL/6J

 MP:0004739 conductive hearing loss "progressive hearing loss due to lesions in the external auditory canal or middle ear" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Naglutm1Efn/Naglutm1Efn
Genetic Background: involves: 129S/SvEv * C57BL/6J

 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]
Show

Allelic Composition: Naglutm1Efn/Naglutm1Efn
Genetic Background: involves: 129S/SvEv * C57BL/6J

 MP:0005105 abnormal middle ear ossicle morphology "anomalous structure or development of the three small bones of the middle ear" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Naglutm1Efn/Naglutm1Efn
Genetic Background: involves: 129S/SvEv * C57BL/6J

 MP:0005107 abnormal stapes morphology "structural anomaly of the smallest and innermost of the three auditory ossicles" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:83132]
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Allelic Composition: Naglutm1Efn/Naglutm1Efn
Genetic Background: involves: 129S/SvEv * C57BL/6J

 MP:0005201 abnormal retinal pigment epithelium morphology "anomaly in the epithelial layer of the retina composed of cells containing pigment granules " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Naglutm1Efn/Naglutm1Efn
Genetic Background: involves: 129S/SvEv * C57BL/6J

 MP:0005326 abnormal podocytes "anomalous structure of the foot processes of the epithelial cells of the glomerulus" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:57971]
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Allelic Composition: Naglutm1Efn/Naglutm1Efn
Genetic Background: either: (involves: 129S/SvEv * C57BL/6) or (involves: C57BL/6)

 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: Naglutm1Efn/Naglutm1Efn
Genetic Background: involves: 129S/SvEv * C57BL/6J

 MP:0006021 abnormal Reissner membrane morphology "any strutural alteration in Reissner s membrane which separates the cochlear duct from the vestibular canal, i.e. the endolymph of the scala media from the perilymph of the scala vestibuli; the Reissner membrane consists of squamous epithelial cells with microvilli toward the ductus, a basement membrane, and a thin layer of connective tissue toward the scala. " [smb:Susan M Bello, Mouse Genome Informatics Curator, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Naglutm1Efn/Naglutm1Efn
Genetic Background: involves: 129S/SvEv * C57BL/6J

 MP:0008114 abnormal Kupffer cell morphology "any structural anomaly of the phagocytic macrophages residing on the luminal surface of the hepatic sinusoids" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Naglutm1Efn/Naglutm1Efn
Genetic Background: either: (involves: 129S/SvEv * C57BL/6) or (involves: C57BL/6)

 MP:0008515 thin retinal outer nuclear layer "reduced thickness of the retinal layer that contains the nuclei and cell bodies of rods and cones" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Naglutm1Efn/Naglutm1Efn
Genetic Background: involves: 129S/SvEv * C57BL/6J

 MP:0008587 short photoreceptor outer segment "decreased length of the photoreceptor region that is rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Naglutm1Efn/Naglutm1Efn
Genetic Background: involves: 129S/SvEv * C57BL/6J

 MP:0008847 abnormal suprachiasmatic nucleus morphology "any structural anomaly of an ovoid densely packed collection of small cells of the anterior hypothalamus lying close to the midline in a shallow impression of the optic chiasm; it receives input from the retina and influences neuroendocrine function" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MESH:A08.186.211.730.317.357.342.625]
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Allelic Composition: Naglutm1Efn/Naglutm1Efn
Genetic Background: involves: 129S/SvEv * C57BL/6J

 MP:0009640 abnormal renal tubule epithelium morphology "any structural anomaly of the cellular avascular layer of the renal tubule luminar surfaces" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Naglutm1Efn/Naglutm1Efn
Genetic Background: either: (involves: 129S/SvEv * C57BL/6) or (involves: C57BL/6)

 MP:0009945 abnormal accessory olfactory bulb morphology "any structural anomaly of the forebrain region that coordinates sensory signaling arising from the vomeronasal organ; it is located on the dorsal-posterior portion of the main olfactory bulb, and the axons that leave the accessory olfactory bulb project to targets in the amygdala and hypothalamus" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Naglutm1Efn/Naglutm1Efn
Genetic Background: either: (involves: 129S/SvEv * C57BL/6) or (involves: C57BL/6)

 MP:0009979 abnormal cerebellum deep nucleus morphology "any structural anomaly of the gray matter nuclei located in the center of the cerebellum, embedded in the white matter, which receive inhibitory (GABAergic) inputs from Purkinje cells in the cerebellar cortex and excitatory (glutamatergic) inputs from mossy fiber pathways; all output fibers of the cerebellum originate from the these nuclei" [http://www.spiritus-temporis.com/cerebellum/anatomy.html]
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Allelic Composition: Naglutm1Efn/Naglutm1Efn
Genetic Background: either: (involves: 129S/SvEv * C57BL/6) or (involves: C57BL/6)

 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: Naglutm1Efn/Naglutm1Efn
Genetic Background: involves: 129S/SvEv * C57BL/6J

 MP:0020467 abnormal circadian behavior "any anomaly in the specific behavior of an organism that recurs with a regularity of approximately 24 hours" [GO:0048512]
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Allelic Composition: Naglutm1Efn/Naglutm1Efn
Genetic Background: involves: 129S/SvEv * C57BL/6J

 MP:0020475 delayed circadian behavior phase "decrease in the phase relationship between a temporal synchronizing event (such as light cycle) and a behavioral phase reference point of an animal (such as activity onset)" [MGI:smb]
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Allelic Composition: Naglutm1Efn/Naglutm1Efn
Genetic Background: involves: 129S/SvEv * C57BL/6J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
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