MGI:Cln8

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Annotations

Qualifier	GO ID	GO term name	Reference	Evidence Code	with/from	Aspect	Notes
	GO:0001306	age-dependent response to oxidative stress	MGI:MGI:3045553 PMID:15213005^[1]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856959	P	From MGI
	GO:0005739	mitochondrion	MGI:MGI:86443 PMID:9059519^[2]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856959	C	From MGI
	GO:0005783	endoplasmic reticulum	MGI:MGI:4834177	ISO: Inferred from Sequence Orthology	UniProtKB:Q9UBY8	C	From MGI
	GO:0005793	endoplasmic reticulum-Golgi intermediate compartment	MGI:MGI:4834177	ISO: Inferred from Sequence Orthology	UniProtKB:Q9UBY8	C	From MGI
	GO:0006644	phospholipid metabolic process	MGI:MGI:1095703 PMID:9245501^[3]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856959	P	From MGI
	GO:0006644	phospholipid metabolic process	MGI:MGI:4834177	ISO: Inferred from Sequence Orthology	UniProtKB:Q9UBY8	P	From MGI
	GO:0006672	ceramide metabolic process	MGI:MGI:4834177	ISO: Inferred from Sequence Orthology	UniProtKB:Q9UBY8	P	From MGI
	GO:0007006	mitochondrial membrane organization	MGI:MGI:86443 PMID:9059519^[2]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856959	P	From MGI
	GO:0007040	lysosome organization	MGI:MGI:1333651 PMID:10087069^[4]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856959	P	From MGI
	GO:0007040	lysosome organization	MGI:MGI:65559 PMID:8144516^[5]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856959	P	From MGI
	GO:0007040	lysosome organization	MGI:MGI:66707 PMID:8160780^[6]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856959	P	From MGI
	GO:0007040	lysosome organization	MGI:MGI:71226 PMID:7613514^[7]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856959	P	From MGI
	GO:0007399	nervous system development	MGI:MGI:4834177	ISO: Inferred from Sequence Orthology	UniProtKB:Q9UBY8	P	From MGI
	GO:0007601	visual perception	MGI:MGI:61034 PMID:7683855^[8]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856959	P	From MGI
	GO:0007601	visual perception	MGI:MGI:65957 PMID:8125718^[9]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856959	P	From MGI
	GO:0007601	visual perception	MGI:MGI:66433 PMID:8282051^[10]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856959	P	From MGI
	GO:0007601	visual perception	MGI:MGI:73463 PMID:7668363^[11]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856959	P	From MGI
	GO:0007628	adult walking behavior	MGI:MGI:1329760 PMID:9918704^[12]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856959	P	From MGI
	GO:0007628	adult walking behavior	MGI:MGI:1337547 PMID:10215924^[13]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856959	P	From MGI
	GO:0007628	adult walking behavior	MGI:MGI:3709684 PMID:2061715^[14]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856959	P	From MGI
	GO:0007628	adult walking behavior	MGI:MGI:56958 PMID:3783318^[15]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856959	P	From MGI
	GO:0007628	adult walking behavior	MGI:MGI:61034 PMID:7683855^[8]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856959	P	From MGI
	GO:0007628	adult walking behavior	MGI:MGI:73463 PMID:7668363^[11]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856959	P	From MGI
	GO:0008203	cholesterol metabolic process	MGI:MGI:4834177	ISO: Inferred from Sequence Orthology	UniProtKB:Q9UBY8	P	From MGI
	GO:0008219	cell death	MGI:MGI:1354194	IEA: Inferred from Electronic Annotation	UniProtKB-KW:KW-0523	P	From MGI
	GO:0008306	associative learning	MGI:MGI:3580037 PMID:15885820^[16]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856959	P	From MGI
	GO:0008344	adult locomotory behavior	MGI:MGI:3622022 PMID:12020865^[17]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856959	P	From MGI
	GO:0008361	regulation of cell size	MGI:MGI:3695117 PMID:15565184^[18]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856959	P	From MGI
	GO:0016020	membrane	MGI:MGI:1354194	IEA: Inferred from Electronic Annotation	UniProtKB-KW:KW-0472	C	From MGI
	GO:0016021	integral to membrane	MGI:MGI:1354194	IEA: Inferred from Electronic Annotation	UniProtKB-KW:KW-0812	C	From MGI
	GO:0016021	integral to membrane	MGI:MGI:2152098	IEA: Inferred from Electronic Annotation	InterPro:IPR006634	C	From MGI
	GO:0021522	spinal cord motor neuron differentiation	MGI:MGI:3709684 PMID:2061715^[14]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856959	P	From MGI
	GO:0021523	somatic motor neuron differentiation	MGI:MGI:4849309 PMID:21052544^[19]	IMP: Inferred from Mutant Phenotype		P	From MGI
	GO:0035176	social behavior	MGI:MGI:3622022 PMID:12020865^[17]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856959	P	From MGI
	GO:0043066	negative regulation of apoptotic process	MGI:MGI:3695117 PMID:15565184^[18]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856959	P	From MGI
	GO:0044257	cellular protein catabolic process	MGI:MGI:53233 PMID:8389815^[20]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856959	P	From MGI
	GO:0044265	cellular macromolecule catabolic process	MGI:MGI:3656423 PMID:15647513^[21]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856959	P	From MGI
	GO:0044267	cellular protein metabolic process	MGI:MGI:49160 PMID:1658691^[22]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856959	P	From MGI
	GO:0045494	photoreceptor cell maintenance	MGI:MGI:1096072 PMID:9151333^[23]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856959	P	From MGI
	GO:0045494	photoreceptor cell maintenance	MGI:MGI:3695117 PMID:15565184^[18]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856959	P	From MGI
	GO:0050881	musculoskeletal movement	MGI:MGI:3709684 PMID:2061715^[14]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856959	P	From MGI
	GO:0050884	neuromuscular process controlling posture	MGI:MGI:3709684 PMID:2061715^[14]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856959	P	From MGI
	GO:0050885	neuromuscular process controlling balance	MGI:MGI:1329760 PMID:9918704^[12]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856959	P	From MGI
	GO:0051348	negative regulation of transferase activity	MGI:MGI:83045 PMID:8873145^[24]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856959	P	From MGI
	GO:0051935	glutamate uptake involved in synaptic transmission	MGI:MGI:1202659 PMID:9600674^[25]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856959	P	From MGI
	GO:0051935	glutamate uptake involved in synaptic transmission	MGI:MGI:52690 PMID:8095977^[26]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856959	P	From MGI
	GO:0060041	retina development in camera-type eye	MGI:MGI:3695117 PMID:15565184^[18]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856959	P	From MGI
	GO:0060041	retina development in camera-type eye	MGI:MGI:4849309 PMID:21052544^[19]	IMP: Inferred from Mutant Phenotype		P	From MGI
	GO:0060052	neurofilament cytoskeleton organization	MGI:MGI:3709684 PMID:2061715^[14]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856959	P	From MGI
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ Guarneri R et al. (2004) Retinal oxidation, apoptosis and age- and sex-differences in the mnd mutant mouse, a model of neuronal ceroid lipofuscinosis. Brain Res 1014: 209-20 PubMed GONUTS page
↑ ^2.0 ^2.1 Vance JE et al. (1997) Abnormalities in mitochondria-associated membranes and phospholipid biosynthetic enzymes in the mnd/mnd mouse model of neuronal ceroid lipofuscinosis. Biochim Biophys Acta 1344: 286-99 PubMed GONUTS page
↑ Porter JC et al. (1997) The motor neuron degeneration (mnd) gene acts intrinsically in motor neurons and peripheral fibroblasts. Mol Cell Neurosci 9: 185-93 PubMed GONUTS page
↑ Cooper JD et al. (1999) Apparent loss and hypertrophy of interneurons in a mouse model of neuronal ceroid lipofuscinosis: evidence for partial response to insulin-like growth factor-1 treatment. J Neurosci 19: 2556-67 PubMed GONUTS page
↑ Faust JR et al. (1994) Two related proteolipids and dolichol-linked oligosaccharides accumulate in motor neuron degeneration mice (mnd/mnd), a model for neuronal ceroid lipofuscinosis. J Biol Chem 269: 10150-5 PubMed GONUTS page
↑ Pardo CA et al. (1994) Accumulation of the adenosine triphosphate synthase subunit C in the mnd mutant mouse. A model for neuronal ceroid lipofuscinosis. Am J Pathol 144: 829-35 PubMed GONUTS page
↑ Tanner A & Dice JF (1995) Batten disease fibroblasts in culture accumulate mitochondrial ATP synthase subunit 9. Cell Biol Int 19: 71-5 PubMed GONUTS page
↑ ^8.0 ^8.1 Bronson RT et al. (1993) Motor neuron degeneration of mice is a model of neuronal ceroid lipofuscinosis (Batten's disease). Ann Neurol 33: 381-5 PubMed GONUTS page
↑ Chang B et al. (1994) Retinal degeneration in motor neuron degeneration: a mouse model of ceroid lipofuscinosis. Invest Ophthalmol Vis Sci 35: 1071-6 PubMed GONUTS page
↑ Messer A et al. (1993) Retinal degeneration in motor neuron degeneration (mnd) mutant mice. Exp Eye Res 57: 637-41 PubMed GONUTS page
↑ ^11.0 ^11.1 Messer A et al. (1995) Genetics of primary and timing effects in the mnd mouse. Am J Med Genet 57: 361-4 PubMed GONUTS page
↑ ^12.0 ^12.1 Boyce S et al. (1999) Onset and progression of motor deficits in motor neuron degeneration (mnd) mice are unaltered by the glycine/NMDA receptor antagonist L-701,324 or the MAO-B inhibitor R(-)-deprenyl. Exp Neurol 155: 49-58 PubMed GONUTS page
↑ Mennini T et al. (1999) Biochemical and pharmacological evidence of a functional role of AMPA receptors in motor neuron dysfunction in mnd mice. Eur J Neurosci 11: 1705-10 PubMed GONUTS page
↑ ^14.0 ^14.1 ^14.2 ^14.3 ^14.4 Callahan LM et al. (1991) Neurofilament distribution is altered in the Mnd (motor neuron degeneration) mouse. J Neuropathol Exp Neurol 50: 491-504 PubMed GONUTS page
↑ Messer A & Flaherty L (1986) Autosomal dominance in a late-onset motor neuron disease in the mouse. J Neurogenet 3: 345-55 PubMed GONUTS page
↑ Wendt KD et al. (2005) Behavioral assessment in mouse models of neuronal ceroid lipofuscinosis using a light-cued T-maze. Behav Brain Res 161: 175-82 PubMed GONUTS page
↑ ^17.0 ^17.1 Bolivar VJ et al. (2002) The development of behavioral abnormalities in the motor neuron degeneration (mnd) mouse. Brain Res 937: 74-82 PubMed GONUTS page
↑ ^18.0 ^18.1 ^18.2 ^18.3 Seigel GM et al. (2005) Progression of early postnatal retinal pathology in a mouse model of neuronal ceroid lipofuscinosis. Eye (Lond) 19: 1306-12 PubMed GONUTS page
↑ ^19.0 ^19.1 Won J et al. (2011) Mouse model resources for vision research. J Ophthalmol 2011: 391384 PubMed GONUTS page
↑ Mazurkiewicz JE et al. (1993) Cytoplasmic inclusions in spinal neurons of the motor neuron degeneration (Mnd) mouse. I. Light microscopic analysis. J Neurol Sci 116: 59-66 PubMed GONUTS page
↑ Cho SK et al. (2005) Characterization of lipid-linked oligosaccharide accumulation in mouse models of Batten disease. Glycobiology 15: 637-48 PubMed GONUTS page
↑ Mazurkiewicz JE (1991) Ubiquitin deposits are present in spinal motor neurons in all stages of the disease in the motor neuron degeneration (Mnd) mutant of the mouse. Neurosci Lett 128: 182-6 PubMed GONUTS page
↑ Bennett MJ et al. (1997) In-utero and post-delivery supplementation of motor neuron degeneration mutant mice with polyunsaturated fatty acids does not alter the clinical or pathological course. Neuropediatrics 28: 82-4 PubMed GONUTS page
↑ Holmes FE & Haynes LW (1996) Superactivation of transglutaminase type 2 without change in enzyme level occurs during progressive neurodegeneration in the mnd mouse mutant. Neurosci Lett 213: 185-8 PubMed GONUTS page
↑ Mennini T et al. (1998) Spinal cord GLT-1 glutamate transporter and blood glutamic acid alterations in motor neuron degeneration (Mnd) mice. J Neurol Sci 157: 31-6 PubMed GONUTS page
↑ Battaglioli G et al. (1993) Synaptosomal glutamate uptake declines progressively in the spinal cord of a mutant mouse with motor neuron disease. J Neurochem 60: 1567-9 PubMed GONUTS page

[PMID:15213005-0] Guarneri R et al. (2004) Retinal oxidation, apoptosis and age- and sex-differences in the mnd mutant mouse, a model of neuronal ceroid lipofuscinosis. Brain Res 1014: 209-20 PubMed GONUTS page

[PMID:9059519-1] 2.0 ^2.1 Vance JE et al. (1997) Abnormalities in mitochondria-associated membranes and phospholipid biosynthetic enzymes in the mnd/mnd mouse model of neuronal ceroid lipofuscinosis. Biochim Biophys Acta 1344: 286-99 PubMed GONUTS page

[PMID:9245501-2] Porter JC et al. (1997) The motor neuron degeneration (mnd) gene acts intrinsically in motor neurons and peripheral fibroblasts. Mol Cell Neurosci 9: 185-93 PubMed GONUTS page

[PMID:10087069-3] Cooper JD et al. (1999) Apparent loss and hypertrophy of interneurons in a mouse model of neuronal ceroid lipofuscinosis: evidence for partial response to insulin-like growth factor-1 treatment. J Neurosci 19: 2556-67 PubMed GONUTS page

[PMID:8144516-4] Faust JR et al. (1994) Two related proteolipids and dolichol-linked oligosaccharides accumulate in motor neuron degeneration mice (mnd/mnd), a model for neuronal ceroid lipofuscinosis. J Biol Chem 269: 10150-5 PubMed GONUTS page

[PMID:8160780-5] Pardo CA et al. (1994) Accumulation of the adenosine triphosphate synthase subunit C in the mnd mutant mouse. A model for neuronal ceroid lipofuscinosis. Am J Pathol 144: 829-35 PubMed GONUTS page

[PMID:7613514-6] Tanner A & Dice JF (1995) Batten disease fibroblasts in culture accumulate mitochondrial ATP synthase subunit 9. Cell Biol Int 19: 71-5 PubMed GONUTS page

[PMID:7683855-7] 8.0 ^8.1 Bronson RT et al. (1993) Motor neuron degeneration of mice is a model of neuronal ceroid lipofuscinosis (Batten's disease). Ann Neurol 33: 381-5 PubMed GONUTS page

[PMID:8125718-8] Chang B et al. (1994) Retinal degeneration in motor neuron degeneration: a mouse model of ceroid lipofuscinosis. Invest Ophthalmol Vis Sci 35: 1071-6 PubMed GONUTS page

[PMID:8282051-9] Messer A et al. (1993) Retinal degeneration in motor neuron degeneration (mnd) mutant mice. Exp Eye Res 57: 637-41 PubMed GONUTS page

[PMID:7668363-10] 11.0 ^11.1 Messer A et al. (1995) Genetics of primary and timing effects in the mnd mouse. Am J Med Genet 57: 361-4 PubMed GONUTS page

[PMID:9918704-11] 12.0 ^12.1 Boyce S et al. (1999) Onset and progression of motor deficits in motor neuron degeneration (mnd) mice are unaltered by the glycine/NMDA receptor antagonist L-701,324 or the MAO-B inhibitor R(-)-deprenyl. Exp Neurol 155: 49-58 PubMed GONUTS page

[PMID:10215924-12] Mennini T et al. (1999) Biochemical and pharmacological evidence of a functional role of AMPA receptors in motor neuron dysfunction in mnd mice. Eur J Neurosci 11: 1705-10 PubMed GONUTS page

[PMID:2061715-13] 14.0 ^14.1 ^14.2 ^14.3 ^14.4 Callahan LM et al. (1991) Neurofilament distribution is altered in the Mnd (motor neuron degeneration) mouse. J Neuropathol Exp Neurol 50: 491-504 PubMed GONUTS page

[PMID:3783318-14] Messer A & Flaherty L (1986) Autosomal dominance in a late-onset motor neuron disease in the mouse. J Neurogenet 3: 345-55 PubMed GONUTS page

[PMID:15885820-15] Wendt KD et al. (2005) Behavioral assessment in mouse models of neuronal ceroid lipofuscinosis using a light-cued T-maze. Behav Brain Res 161: 175-82 PubMed GONUTS page

[PMID:12020865-16] 17.0 ^17.1 Bolivar VJ et al. (2002) The development of behavioral abnormalities in the motor neuron degeneration (mnd) mouse. Brain Res 937: 74-82 PubMed GONUTS page

[PMID:15565184-17] 18.0 ^18.1 ^18.2 ^18.3 Seigel GM et al. (2005) Progression of early postnatal retinal pathology in a mouse model of neuronal ceroid lipofuscinosis. Eye (Lond) 19: 1306-12 PubMed GONUTS page

[PMID:21052544-18] 19.0 ^19.1 Won J et al. (2011) Mouse model resources for vision research. J Ophthalmol 2011: 391384 PubMed GONUTS page

[PMID:8389815-19] Mazurkiewicz JE et al. (1993) Cytoplasmic inclusions in spinal neurons of the motor neuron degeneration (Mnd) mouse. I. Light microscopic analysis. J Neurol Sci 116: 59-66 PubMed GONUTS page

[PMID:15647513-20] Cho SK et al. (2005) Characterization of lipid-linked oligosaccharide accumulation in mouse models of Batten disease. Glycobiology 15: 637-48 PubMed GONUTS page

[PMID:1658691-21] Mazurkiewicz JE (1991) Ubiquitin deposits are present in spinal motor neurons in all stages of the disease in the motor neuron degeneration (Mnd) mutant of the mouse. Neurosci Lett 128: 182-6 PubMed GONUTS page

[PMID:9151333-22] Bennett MJ et al. (1997) In-utero and post-delivery supplementation of motor neuron degeneration mutant mice with polyunsaturated fatty acids does not alter the clinical or pathological course. Neuropediatrics 28: 82-4 PubMed GONUTS page

[PMID:8873145-23] Holmes FE & Haynes LW (1996) Superactivation of transglutaminase type 2 without change in enzyme level occurs during progressive neurodegeneration in the mnd mouse mutant. Neurosci Lett 213: 185-8 PubMed GONUTS page

[PMID:9600674-24] Mennini T et al. (1998) Spinal cord GLT-1 glutamate transporter and blood glutamic acid alterations in motor neuron degeneration (Mnd) mice. J Neurol Sci 157: 31-6 PubMed GONUTS page

[PMID:8095977-25] Battaglioli G et al. (1993) Synaptosomal glutamate uptake declines progressively in the spinal cord of a mutant mouse with motor neuron disease. J Neurochem 60: 1567-9 PubMed GONUTS page

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Species (Taxon ID)	Mus musculus (house mouse) (taxon:10090)
Gene Name(s)	Cln8
Protein Name(s)	ceroid-lipofuscinosis, neuronal 8,
External Links
MGI	MGI:1349447

MGI:Cln8

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