Strain Name: |
STOCK a/a Cln6nclf/J |
|---|---|
Stock Number: |
002648 |
Availability: | Repository-Cryopreserved |
General Terms and Conditions |
| Genes & Alleles | Cln6; Cln6nclf; Pde6b; Pde6brd1; a; |
Type JAX® GEMM® Strain - Mutant Stock Additional information on JAX® GEMM® Strains. Species laboratory mouse Generation F14p Appearance
black
Related Genotype: a/aImportant Note
This strain is homozygous for the retinal degeneration allele Pde6brd1.Strain 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.Strain 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).
Related Disease (OMIM) Terms |
Mammalian Phenotype Terms assigned by genotype |
| Allele Symbol | Cln6nclf | ||
|---|---|---|---|
| Allele Name | neuronal ceroid lipofuscinosis | ||
| 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; | ||
| General Note | Homozygous mutant mice develop progressive retinal atrophy at an early age. Luxol fast blue staining, indicative of proteolipid accumulation, occurs in cytoplasm of neurons and other types of cells. Affected 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. Paralysis and death occur by around 9 months of age (J:47292). | ||
| Molecular Note | The underlying mutation responsible for the phenotype in the nclf mouse was identified as 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. Numerous mutations were identified in the human ortholog of families with variant late infantile ceroid lipofuscinosis. The identical mutation in the nclf mouse was observed in three families of Pakastani origin. [MGI Ref ID J:73921] [MGI Ref ID J:73923] | ||
| Allele Symbol | a | ||
| Allele Name | nonagouti | ||
| Allele Symbol | Pde6brd1 | ||
| Allele Name | retinal degeneration 1 | ||
| Common Name(s) | rd; rd-1; rd1; rodless retina; | ||
| Allele | Control | |
|---|---|---|
| Cln6nclf | None Available | |
| Considerations for Choosing Controls | ||
Strains carrying Cln6nclf allele
003602 B6 x STOCK Cln6nclf-Edardl-3J/J 003605 B6.Cg-Cln6nclf/J View Strains carrying Cln6nclf (2 strains)
Strains carrying Pde6brd1 allele
View Strains carrying Pde6brd1 (74 strains)
Strains carrying a allele
View Strains carrying a (102 strains)
Strains carrying other alleles of Pde6b
004297 B6.CXB1-Pde6brd10/J 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 View Strains carrying other alleles of Pde6b (8 strains)
Strains carrying other alleles of a
View Strains carrying other alleles of a (67 strains)
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
| Strain Name: | STOCK a/a Cln6nclf/J |
| Stock Number: | 002648 |
IMPORTANT NOTE: Prices are based on shipping destination. To view prices, select your shipping destination.
| Standard Supply | Repository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information. |
|---|---|
| Supply Notes |
Cryorecovery - Standard. The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two males and two females (two pairs) will be provided, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery. Cryorecovery to establish a Dedicated Supply for greater quantities of mice. |
| Licensing | See General Terms and Conditions below |
| Control Information | View Control Information in Strain Details. |
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