Strain Name: |
B6C3Fe a/a-Qkqk/J |
|---|---|
Stock Number: |
000506 |
Availability: | Repository-Cryopreserved |
General Terms and Conditions |
| Former Name |
B6C3Fe a/a-Qk/J (Changed: 15-DEC-04
) |
|
B6C3Fe a/a-qk/+ (Changed: 15-DEC-04
) | |
|
B6C3Fe-a/a-qk/+ (Changed: 15-DEC-04
) | |
| Genes & Alleles | Qk; Qkqk; a; |
Type JAX® GEMM® Strain - Mutant Strain Additional information on JAX® GEMM® Strains. Type JAX® GEMM® Strain - Spontaneous Mutation Species laboratory mouse Generation N16p Appearance
black, tremors
Related Genotype: a/a Qkqk/Qkqk
black, unaffected
Related Genotype: a/a Qkqk/+ or a/a ?/+Strain Description
Mice homozygous for the quaking spontaneous mutation (Qk) have marked rapid tremor which disappears when they are at rest but increases during locomotion. The tremor in homozygous mutant mice begins at about 10 days and is fully developed by 3 weeks. Mature mice may have seizures in which a motionless posture is maintained for many seconds. Females are viable and fertile, males are sterile due to defective spermatic differentiation. The entire CNS of quaking mutant mice is severely deficient in myelin and there is a less severe myelin deficiency in the PNS.Strain Development
The quaking (Qkqk) mutation arose spontaneously in 1961 in the DBA/2J strain. It was crossed twice to C3H then transferred to the C57BL/6JEi background via backcross-intercross mating until N10 then sibling bred. At N11F10 it was bred to C57BL/6J-T2J, and a repulsion stock was generated. In 1976 a Qkqk homozygote was outcrossed to a B6C3HF1 male, removing the T2J mutation, and the Qkqk mutation was maintained via cross-intercross using Qkqk homozygous females and B6C3F1 males for the cross since homozygous males are sterile. At N8F4 a change was made to use B6C3Fe-a/a F1 for the outcross. In 1987 homozygous females at N15F1 were bred with B6C3F3-a/a F1 males to generate embryos for cryopreservation.
Mammalian Phenotype Terms assigned by genotype |
| Allele Symbol | Qkqk | ||
|---|---|---|---|
| Allele Name | quaking | ||
| Common Name(s) | qk; qkv; | ||
| Strain of Origin | DBA/2J | ||
| Gene Symbol and Name | Qk, quaking | ||
| Chromosome | 17 | ||
| Gene Common Name(s) | DKFZp586I0923; Hqk; QK1; QK3; QkI; l(17)-1Wis; l17Wis1; lethal, Chr 17, U Wisconsin 1; | ||
| General Note | The quaking mutation arose spontaneously in the DBA/2J strain. Homozygotes have marked rapid tremor which disappears when they are at rest but increases during locomotion. It begins at about 10 days and is fully developed by 3 weeks. Mature mice may haveseizures in which a motionless posture is maintained for many seconds. Females are viable and fertile, males sterile.Homozygotes are severely deficient in myelin, the material which ensheathes and insulates the axons of the central (CNS) and peripheral(PNS) nervous systems (see Mbp). The entire CNS is very deficient in myelin at all ages (J:13141), and there is a less severe myelin deficiency in the PNS nervous system (J:5177). Myelin sheaths are present in the CNS, but they are thinner than normal, some consisting of only one to four myelin lamellae. The sheaths are usually loosely wound, with patches of oligodendroglial cell cytoplasm between the lamellae, and there are abnormal inclusions and vacuoles in the processes and perikarya of oligodendrocytes. Development of the myelin sheaths appears to be arrested in a stage characteristic of very young animals (J:5189)(J:5271)(J:5218). There is variable hyperplasia of oligodendrocytes, greatest in the tracts with the greatest degree of myelination (J:5615). Axons have normal morphology but there is abnormally high proteolysis in the axons of the optic nerve (J:6971). There is evidence that the myelination defect in the CNS is due to defective oligodendrocytes (J:6216).Handling-induced convulsive seizures in qk/qk mice can be inhibited by administration of N-methyl-D-aspartate (NMDA) antagonists. Modulatory mechanisms for the NMDA receptor complex may differ in qk/qk mice from wild-type (J:1930). a2-adrenoceptor (A2A) antagonists also inhibit these seizures, while A2A agonists potentiate them. qk/qk mice have increased brain binding sites for A2A agonists (J:1169).In the PNS, thinly myelinated and unmyelinated fibers have been described in the sciatic nerve and in the intracranial portion of the trigeminal nerve (J:5189)(J:5271). The sheaths may be structurally abnormal with regions of uncompacted myelin lamellae similar to those of the CNS (J:5778). Orthotopic transplantation of pieces of sciatic nerve between quaking and normal mice has shown that the genetic defect is expressed in Schwann cells (J:14892). Qk causes defective myelinogenesis in both oligodendrocytes and Schwann cells (J:6411).There is an extensive literature on biochemical defects related to the deficiency of myelin in quaking mice (J:26986), a consistent finding of which is a severe deficiency of the myelin lipids, sphingomyelin, cerebrosides, and sulfatides, particularly those containing long-chain fatty acids. The normal increase in these fatty acids which occurs between 15 and20 days does not occur in qk/qk mice, so that adult mutants tend to resemble very young controls (J:5171). Brain proteolipids in adult quaking mice retain the relative proportions found in 10-day controls (J:5408). The myelin-associated glycoproteins of different molecular weight in the brains of quaking mice 15 days of age and older are expressed in abnormal proportions (J:7990). Synthesis of myelin basic protein and proteolipids is normal in quaking brains but their incorporation into myelin is defective (J:6151). mRNAs for myelin basic protein, for example, occur in oligodendrocyte cell bodies, but not in the cell processes that actually form the myelin sheath, in qk/qk brain (J:1931). Quaking mice may have abnormal levels of copper and zinc in the brain, but the evidence on this point is conflicting (J:7214).The sterility of male qk/qk mice is due to defective spermatid differentiation, the details of which have been described (J:5241). | ||
| Molecular Note | The quaking phenotype has been attributed to a 1.85 Mb deletion on chromosome 17. The proximal breakpoint was located in the promoter region of the Qk gene and affects transcript levels of that gene. The distal breakpoint lies between exons 5 and 6 ofthe parkin gene. Both the parkin gene and another co-regulated gene, Pacrg, are inactivated. Although parkin is not expressed in these mutants, the described phenotype appears due to to the defect in Qk expression. [MGI Ref ID J:101474] [MGI Ref ID J:55007] [MGI Ref ID J:87498] [MGI Ref ID J:88351] | ||
| Allele Symbol | a | ||
| Allele Name | nonagouti | ||
| Allele | Control | |
|---|---|---|
| Qkqk | Untyped from the colony | |
| Considerations for Choosing Controls | ||
| Breeding & Husbandry | Comments: homozygous males are sterile. |
|---|
Strains carrying Qkqk allele
000567 B6.Cg-T2J +/+ Qkqk/J View Strains carrying Qkqk (1 strain)
Strains carrying a allele
View Strains carrying a (100 strains)
Strains carrying other alleles of Qk
005089 B.Cg m +/+ Leprdb-Qkqk-2J/J View Strains carrying other alleles of Qk (1 strain)
Strains carrying other alleles of a
View Strains carrying other alleles of a (67 strains)
Qkqk relatedNeurobiology Research
Parkinson's Disease (Park2 (parkin) mutants)
Apoptosis Research
Cell Biology Research
Cell Cycle Regulation
Protein Processing (degradation)
Neurobiology Research
Epilepsy
Myelination Defects
Neurodegeneration
Parkinson's Disease
Tremor Defects
Vestibular and Hearing Defects
Reproductive Biology Research
Developmental Defects Affecting Gonads (males only)
Fertility Defects (males only)
Sensorineural Research
Vestibular and Hearing Defects
Selected Reference(s)
Additional ReferencesSIDMAN RL; DICKIE MM; APPEL SH. 1964. MUTANT MICE (QUAKING AND JIMPY) WITH DEFICIENT MYELINATION IN THE CENTRAL NERVOUS SYSTEM. Science 144:309-11. [PubMed: 14169723] [MGI Ref ID J:13141]
| Strain Name: | B6C3Fe a/a-Qkqk/J |
| Stock Number: | 000506 |
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 the 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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