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- Description
- Phenotype
- Genes & alleles
- Genotyping
- Health & husbandry
- References
- Purchasing information
- Terms of Use
Description
The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.
Strain Information
Type Mutant Stock; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation F14p Appearance
black
Related Genotype: a/aImportant Note
This strain is homozygous for the retinal degeneration allele Pde6brd1.Description
Mice homozygous for the neuronal ceroid lipofuscinosis mutation (nclf) have a phenotype that is very similar to mice homozygous for the motor neuron degeneration mutation (mnd). Homozygous mutant mice display abnormal proteolipid storage by lysosomes termed neuronal ceroid lipofuscinosis. Mice also develop progressive retinal degeneration at an early age. Affected neuronal lysosomes show abnormal morphology. Severe cerebral gliosis and Wallerian degeneration of long neuronal tracts occur late in the disease and account for the motor neuron abnormalities and eventual paralysis. Homozygotes live to approximately 9 months of age.Development
The STOCK background carrying the nclf mutation is a mixture of C57BL/6, C57BL/10, and C3HeB/FeJLe inbred strains. It is also wildtype for the juvenile bare spontaneous mutation (+jb).
Control Information
| Control | ||
|---|---|---|
| None Available | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying Cln6nclf allele
003602 B6 x STOCK Cln6nclf-Edardl-3J/J 003605 B6.Cg-Cln6nclf/J View Strains carrying Cln6nclf (2 strains)
004297 B6.CXB1-Pde6brd10/J 005252 B6EiC3Sn.BLiA-Ts(1716)65Dn/DnJ 003647 B6EiC3Sn.BLiAF1 002802 C3.BLiA Pde6b+-Krd/J 001979 C3A.BLiA-Pde6b+.O20-Prph2Rd2/J 001912 C3A.BLiA-Pde6b+/J 003648 C3Sn.BLiA-Pde6b+/Dn 004766 C57BL/6J-Pde6brd1-2J/J 004828 FVB.129P2-Pde6b+ Tyrc-ch/AntJ 004808 STOCK Mapttm1(EGFP)Klt Tg(MAPT)8cPdav/J
Phenotype
Phenotype Information
Ceroid Lipofuscinosis, Neuronal, 6; CLN6 - Models with phenotypic similarity to human disease where etiologies involve orthologs.1
1 Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
assigned by genotype
Cln6nclf/Cln6nclf
involves: C57BL/6J * C57BL/10J * C3HeB/FeJLe
- life span-post-weaning/aging
- premature death (MGI Ref ID J:47292)
- behavior/neurological phenotype
- paralysis (MGI Ref ID J:47292)
- paresis progresses to paralysis typically by 9 months of age
- paralysis is spastic in nature
- paresis (MGI Ref ID J:47292)
- develop rear limb paresis by 8 months of age
- paresis is spastic in nature
- seizures (MGI Ref ID J:47292)
- terminal seizures have been seen
- nervous system phenotype
- abnormal myelination (MGI Ref ID J:47292)
- many profiles of degenerating myelin sheaths and axons are seen in the white matter of the spinal cord
- lesions in the spinal cord are consistent with Wallerian degeneration
- abnormal neuron physiology (MGI Ref ID J:47292)
- at 11 days of age, accumulation of luxol fast blue staining material is seen in inclusions in neurons in all parts of the brain and spinal cord
- amount of inclusion material increases with age
- astrocytosis (MGI Ref ID J:47292)
- by 6 months of age increasing numbers of hypertrophic astrocytes are seen in the cerebral cortex, thalamus and brain stem indicative of reactive gliosis
- axon degeneration (MGI Ref ID J:47292)
- many profiles of degenerating myelin sheaths and axons are seen in the white matter of the spinal cord
- lesions in the spinal cord are consistent with Wallerian degeneration
- however, no necrotic or apoptotic nuclei are detected in the central nervous system
- seizures (MGI Ref ID J:47292)
- terminal seizures have been seen
- vision/eye phenotype
- retinal degeneration (MGI Ref ID J:47292)
- begins around 4 months of age
- by 5 - 6 months of age, the outer nuclear layer is reduced to 5-6 cell layers compared to 11 in controls
This mouse can be used to support research in many areas including:Cln6nclf related
Pde6brd1 relatedNeurobiology Research
Ataxia (Movement) Defects
Myelination Defects
Neurodegeneration
Neuromuscular Defects
Sensorineural Research
Retinal Degeneration
Mouse/Human Gene Homologs
retinitis pigmentosa, autosomal recessive
Sensorineural Research
Retinal Degeneration
Genes & Alleles
Gene & Allele Information
| Allele Symbol | Cln6nclf | ||
|---|---|---|---|
| Allele Name | neuronal ceroid lipofuscinosis | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | nclf; | ||
| Strain of Origin | Mixed stock | ||
| Gene Symbol and Name | Cln6, ceroid-lipofuscinosis, neuronal 6 | ||
| Chromosome | 9 | ||
| Gene Common Name(s) | 1810065L06Rik; AW743417; D9Bwg1455e; DNA segment, Chr 9, Brigham & Women's Genetics 1455 expressed; FLJ20561; HsT18960; RIKEN cDNA 1810065L06 gene; expressed sequence AW743417; nclf; neuronal ceroid lipofuscinosis; | ||
| Molecular Note | This allele comprises a single nucleotide insertion of a cysteine, located within a run of cysteines in exon four. The insertion produces a frameshift at amino acid 103, followed by a premature stop codon. [MGI Ref ID J:73921] [MGI Ref ID J:73923] | ||
| Allele Symbol | a | ||
| Allele Name | nonagouti | ||
| Allele Type | Spontaneous | ||
| Allele Symbol | Pde6brd1 | ||
| Allele Name | retinal degeneration 1 | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | Pdebrd1; rd; rd-1; rd1; rodless retina; | ||
Genotyping
Genotyping Information
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Genotyping resources and troubleshooting
References
References
Additional References
Bronson RT; Donahue LR; Johnson KR; Tanner A; Lane PW; Faust JR. 1998. Neuronal ceroid lipofuscinosis (nclf), a new disorder of the mouse linked to chromosome 9. Am J Med Genet 77(4):289-97. [PubMed: 9600738] [MGI Ref ID J:47292]
Chang B; Hawes NL; Hurd RE; Davisson MT; Nusinowitz S; Heckenlively JR. 2002. Retinal degeneration mutants in the mouse. Vision Res 42(4):517-25. [PubMed: 11853768] [MGI Ref ID J:75095]
Gao H; Boustany RM; Espinola JA; Cotman SL; Srinidhi L; Antonellis KA; Gillis T; Qin X; Liu S; Donahue LR; Bronson RT; Faust JR; Stout D; Haines JL; Lerner TJ; MacDonald ME. 2002. Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. Am J Hum Genet 70(2):324-35. [PubMed: 11791207] [MGI Ref ID J:73923]
Wheeler RB; Sharp JD; Schultz RA; Joslin JM; Williams RE; Mole SE. 2002. The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein. Am J Hum Genet 70(2):537-42. [PubMed: 11727201] [MGI Ref ID J:73921]
Cln6nclf relatedBronson RT; Donahue LR; Johnson KR; Tanner A; Lane PW; Faust JR. 1998. Neuronal ceroid lipofuscinosis (nclf), a new disorder of the mouse linked to chromosome 9. Am J Med Genet 77(4):289-97. [PubMed: 9600738] [MGI Ref ID J:47292]
Chang B; Hawes NL; Hurd RE; Davisson MT; Nusinowitz S; Heckenlively JR. 2002. Retinal degeneration mutants in the mouse. Vision Res 42(4):517-25. [PubMed: 11853768] [MGI Ref ID J:75095]
Gao H; Boustany RM; Espinola JA; Cotman SL; Srinidhi L; Antonellis KA; Gillis T; Qin X; Liu S; Donahue LR; Bronson RT; Faust JR; Stout D; Haines JL; Lerner TJ; MacDonald ME. 2002. Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. Am J Hum Genet 70(2):324-35. [PubMed: 11791207] [MGI Ref ID J:73923]
Jabs S; Quitsch A; Kakela R; Koch B; Tyynela J; Brade H; Glatzel M; Walkley S; Saftig P; Vanier MT; Braulke T. 2008. Accumulation of bis(monoacylglycero)phosphate and gangliosides in mouse models of neuronal ceroid lipofuscinosis. J Neurochem 106(3):1415-25. [PubMed: 18498441] [MGI Ref ID J:138648]
Kielar C; Wishart TM; Palmer A; Dihanich S; Wong AM; Macauley SL; Chan CH; Sands MS; Pearce DA; Cooper JD; Gillingwater TH. 2009. Molecular correlates of axonal and synaptic pathology in mouse models of Batten disease. Hum Mol Genet 18(21):4066-80. [PubMed: 19640925] [MGI Ref ID J:153101]
Pohl S; Mitchison HM; Kohlschutter A; van Diggelen O; Braulke T; Storch S. 2007. Increased expression of lysosomal acid phosphatase in CLN3-defective cells and mouse brain tissue. J Neurochem 103(6):2177-88. [PubMed: 17868323] [MGI Ref ID J:128711]
Wheeler RB; Sharp JD; Schultz RA; Joslin JM; Williams RE; Mole SE. 2002. The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein. Am J Hum Genet 70(2):537-42. [PubMed: 11727201] [MGI Ref ID J:73921]
Health & husbandry
Health & Colony Maintenance Information
Currently there no information available for this strain. This may be due to the supply level of this strain.
Purchasing information
Pricing, Supply Level & Notes, Controls, General Terms & Conditions
Pricing
| Pricing for USA, Canada and Mexico shipping destinations |
|
Animals Provided
Price (US dollars $) Cryorecovery Fee $1900.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
Additional Supply Details
| Pricing for International shipping destinations |
|
Animals Provided
Price (US dollars $) Cryorecovery Fee $2470.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
Additional Supply Details
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Supply Details
| Standard Supply | Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information. |
|---|---|
| Supply Notes |
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| Important Note | |
| This strain is homozygous for the retinal degeneration allele Pde6brd1. | |
Control Information
| Control | ||
|---|---|---|
| None Available | ||
| Considerations for Choosing Controls | ||
| USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains. | ||
| International - Control Pricing Information for Genetically Engineered Mutant Strains. | ||
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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.Ordering and Purchasing Information
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