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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
Former Names B6C3Fe a/a-mdf/J (Changed: 25-JUN-07 ) B6C3Fe-a/a-mdf (Changed: 15-DEC-04 ) Type Mutant Stock; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation N12 F1 Description
Mice homozygous for the muscle deficient spontaneous mutation (Scyl1mdf) are first recognizable at 5 to 6 weeks of age. Homozygous mutant mice are slightly smaller than normal, have a waddling gait, and often have a nervous tremor. By 12 weeks of age, they can progress only by pulling themselves forward with their forelimbs. Fertility is low in both males and females. Homozygotes have a marked reduction of muscle mass in the sartorius, vastus lateralis, and rectus femoris, and a lesser reduction in forelimb muscles. Histologically, there is atrophy of both type I and type II muscle fibers.Development
Muscle deficient (Scyl1mdf) arose spontaneously in a homozygous C57BL/6J leaden fuzzy strain (B6.Cg-fz H54 Mlphln/+ H54 +/J) at N3 in 1975 at the Jackson Laboratory. An ovarian transplant from a homozygous muscle deficient mouse into a B6CBA F1 host was made and mated to a C57BL/6J male. The mutation was backcrossed onto strain C57BL/6J through ovarian transplant to N6. An N6 ovary transplant host was mated to a C3HeB/FeJ-a/a N7F10 male and the next transplant was mated to the B6C3Fe-a/a hybrid. It was then backcrossed to the B6C3Fe-a/a hybrid continuously using the cross intercross method and cryopreserved in 1984 at N15.
Control Information
| Control | ||
|---|---|---|
| Untyped from the colony | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying a allele
View Strains carrying a (104 strains)
Phenotype
Phenotype Information
assigned by genotype
Scyl1mdf/Scyl1mdf
B6C3Fe a/a-Scyl1mdf/J
- nervous system phenotype
- abnormal axon morphology (MGI Ref ID J:121817)
- axonal degeneration and loss of axons
- fewer myelinated fibers in the sciatic nerve and no large myelinated fibers
- abnormal myelin sheath morphology (MGI Ref ID J:121817)
- hypomyelination
- fragmentation of myelin sheaths
- abnormal cerebellum morphology (MGI Ref ID J:121817)
- abnormal Purkinje cell morphology (MGI Ref ID J:121817)
- axonal swelling reduced
- abnormal Purkinje cell dendrite morphology (MGI Ref ID J:121817)
- dendritic arborization and ramification reduced
- decreased Purkinje cell number (MGI Ref ID J:121817)
- overall reduction in number becoming very pronounced by 45 days of age
- abnormal vermis morphology (MGI Ref ID J:121817)
- marked atrophy of the cerebellar vermis
- abnormal innervation (MGI Ref ID J:30384)
- abnormal motor nerve terminal sprouting (MGI Ref ID J:30384)
- axonal sprouting
- abnormal muscle innervation (MGI Ref ID J:30384)
- collateral reinnervation sometimes occurs and has a reticulated appearance
- abnormal neuromuscular synapse morphology (MGI Ref ID J:30384)
- motor nerve terminals are disorganized in shape
- abnormal optic nerve morphology (MGI Ref ID J:121817)
- visibly smaller in cross section
- increase of small diameter myelinated fibers
- thinner myelinated sheaths
- motor neuron degeneration (MGI Ref ID J:30384)
- vacuolation of motor neurons in the spinal cord and brain stem
- vacuolated cells in the spinal cord found exclusively in the ventral horn
- degenerating fibers often found in proximity to normal fibers
- behavior/neurological phenotype
- abnormal grip strength (MGI Ref ID J:30384)
- progressive reduction of forelimb grip strength
- abnormal stationary movement (MGI Ref ID J:30384)
- abnormal tail movements (MGI Ref ID J:30384)
- loss of tail mobility over time
- hindlimb paralysis (MGI Ref ID J:30384)
- hind-limbs are paralytic at 3 months of age but flexion of hindlimb digits is still possible
- muscle phenotype
- abnormal muscle electrophysiology (MGI Ref ID J:30384)
- abnormal spontaneous electromyographic activity
- amplitude of muscle action potential about 1/3 of controls
- abnormal muscle regeneration (MGI Ref ID J:30384)
- isolated regenerating fibers found in most muscles
- muscular atrophy (MGI Ref ID J:30384)
- quadriceps femoris becomes atrophied sometimes involving entire muscle fascicles
- triceps brachii usually severely atrophied sometimes involving entire muscle fascicles
- extent of atrophy varies in different muscles and individuals
- some muscles are usually spared
- skeletal muscle fiber necrosis (MGI Ref ID J:30384)
- isolated necrotic fibers found in most muscles
- skeleton phenotype
- abnormal pelvic girdle bone morphology (MGI Ref ID J:30384)
- dorso-ventral flattening of the pelvis by 3 months of age
- vision/eye phenotype
- abnormal optic nerve morphology (MGI Ref ID J:121817)
- visibly smaller in cross section
- increase of small diameter myelinated fibers
- thinner myelinated sheaths
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Scyl1mdf/Scyl1mdf
involves: CFW * C57BL/6J * C57BR
- growth/size phenotype
- decreased body size (MGI Ref ID J:4479)
- slightly smaller than controls at 5-6 weeks of age
- reproductive system phenotype
- reduced fertility (MGI Ref ID J:4479)
- fertility is low in affected individuals
- behavior/neurological phenotype
- abnormal involuntary movement (MGI Ref ID J:4479)
- fail to fully extend their hind limbs when lifted by the tail
- tremors (MGI Ref ID J:4479)
- exhibit nervous tremors
- abnormal locomotor activity (MGI Ref ID J:4479)
- movement solely using forelimbs after 12 weeks when the hind limbs are dorsally contracted
- abnormal gait (MGI Ref ID J:4479)
- waddling walk at 5-6 weeks of age
- muscle phenotype
- decreased muscle weight (MGI Ref ID J:28676)
- marked reduction in mass of hind limb muscles (sartorius, vasus lateralis, rectus femoris)
- forelimb muscle reduction more modest than in hind limbs
- muscular atrophy (MGI Ref ID J:28676)
- secondary to chronic peripheral neuropathy
- atrophy of both type 1 and type 2 fibers
- nervous system phenotype
- abnormal nervous system physiology (MGI Ref ID J:4479)
- abnormal peripheral nervous system regeneration (MGI Ref ID J:4479)
- grouping of nerve fibers indicative of denervation and reinnervation
- peripheral nervous system degeneration (MGI Ref ID J:4479)
- grouping of nerve fibers indicative of denervation and reinnervation
- abnormal somatic nervous system morphology (MGI Ref ID J:28676)
- chronic peripheral neuropathy
This mouse can be used to support research in many areas including:Scyl1mdf related
Neurobiology Research
Ataxia (Movement) Defects
Neuromuscular Defects
Tremor Defects
Genes & Alleles
Gene & Allele Information
| Allele Symbol | Scyl1mdf | ||
|---|---|---|---|
| Allele Name | muscle deficient | ||
| Allele Type | Spontaneous | ||
| Strain of Origin | B6.Cg-Sgk3 | ||
| Gene Symbol and Name | Scyl1, SCY1-like 1 (S. cerevisiae) | ||
| Chromosome | 19 | ||
| Gene Common Name(s) | 2810011O19Rik; C85140; GKLP; HT019; MGC78454; N-terminal kinase-like; NKTL; NTKL; Ntkl; P105; RIKEN cDNA 2810011O19 gene; TAPK; TEIF; TRAP; expressed sequence C85140; mdf; mfd; muscle deficient; | ||
| General Note | Phenotypic Similarity to Human Syndrome: Spinocerebellar ataxia (J:121817) | ||
| Molecular Note | A single thymidine nucleotide insertion is found in exon 8 between positions 1169 and 1170. This results in a frame shift and creation of a premature stop codon down stream. [MGI Ref ID J:121817] | ||
| Allele Symbol | a | ||
| Allele Name | nonagouti | ||
| Allele Type | Spontaneous | ||
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
Scyl1mdf relatedBlot S; Poirier C; Dreyfus PA. 1995. The mouse mutation muscle deficient (mdf) is characterized by a progressive motoneuron disease. J Neuropathol Exp Neurol 54(6):812-25. [PubMed: 7595654] [MGI Ref ID J:30384]
Cabanes C; Bonilla S; Tabares L; Martinez S. 2007. Neuroprotective effect of adult hematopoietic stem cells in a mouse model of motoneuron degeneration. Neurobiol Dis 26(2):408-18. [PubMed: 17337196] [MGI Ref ID J:134853]
Lisovoski F; Blot S; Lacombe C; Bellier JP; Dreyfus PA; Junier MP. 1997. Transforming growth factor alpha expression as a response of murine motor neurons to axonal injury and mutation-induced degeneration. J Neuropathol Exp Neurol 56(5):459-71. [PubMed: 9143258] [MGI Ref ID J:42305]
Rathke-Hartlieb S; Budde P; Ewert S; Schlomann U; Staege MS; Jockusch H; Bartsch JW; Frey J. 2000. Elevated expression of membrane type 1 metalloproteinase (MT1-MMP) in reactive astrocytes following neurodegeneration in mouse central nervous system. FEBS Lett 481(3):227-34. [PubMed: 11007969] [MGI Ref ID J:115115]
Schmidt WM; Kraus C; Hoger H; Hochmeister S; Oberndorfer F; Branka M; Bingemann S; Lassmann H; Muller M; Macedo-Souza LI; Vainzof M; Zatz M; Reis A; Bittner RE. 2007. Mutation in the Scyl1 gene encoding amino-terminal kinase-like protein causes a recessive form of spinocerebellar neurodegeneration EMBO Rep 8(7):691-697. [PubMed: 17571074] [MGI Ref ID J:121817]
Sedehizade F; Klocke R; Jockusch H. 1997. Expression of nerve-regulated genes in muscles of mouse mutants affected by spinal muscular atrophies and muscular dystrophies. Muscle Nerve 20(2):186-94. [PubMed: 9040657] [MGI Ref ID J:53205]
Womack J. 1978. Muscle deficient symbol. Mouse News Lett 58:50. [MGI Ref ID J:13756]
Womack J; MacPike A; Meier. 1977. Muscle deficient (mfd) Mouse News Lett 56:41. [MGI Ref ID J:28676]
Womack JE; MacPike A; Meier H. 1980. Muscle deficient, a new mutation in the mouse. J Hered 71:68. [MGI Ref ID J:4479]
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. |
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| Supply Notes |
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Control Information
| Control | ||
|---|---|---|
| Untyped from the colony | ||
| 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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