Go to JAX® Mice Query Form
Strain Name: |
B6C3Fe a/a-Scyl1mdf/J |
Stock Number: |
000224 |
Availability:
| Repository-Cryopreserved |
| Former Name |
B6C3Fe a/a-mdf/J (Changed: 25-JUN-07
)
|
|
B6C3Fe-a/a-mdf (Changed: 15-DEC-04
)
|
| Genes & Alleles |
Scyl1;
Scyl1mdf;
a;
|
Product Information
Strain Details
| Type |
JAX® GEMM® Strain -
Mutant Stock |
| Additional information on
JAX® GEMM® Strains. |
| Type |
JAX® GEMM® Strain -
Spontaneous Mutation |
| Species | laboratory mouse |
| Generation | N12 F1
|
|
|
Strain 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.
Strain 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.
Mammalian Phenotype Terms 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)
- 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)
- 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
- muscle degeneration
(MGI Ref ID J:30384)
- isolated necrotic 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
- 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
- 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
|
Gene & Allele Details
| Allele Symbol |
Scyl1mdf |
| Allele Name |
muscle deficient |
| Strain of Origin | B6.Cg-Sgk3 Mlph |
| 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 |
Control Information
Related Strains
Strains carrying a allele
View Strains carrying a (102 strains)
Strains carrying other alleles of a
View Strains carrying other alleles of a (67 strains)
Research Applications
This mouse can be used to support research in many areas including:
Scyl1mdf related
Neurobiology Research
Ataxia (Movement) Defects
Neuromuscular Defects
Tremor Defects
References
Additional References
Price and Supply Information
| Strain Name: |
B6C3Fe a/a-Scyl1mdf/J |
| Stock Number: |
000224 |
Price Details
IMPORTANT NOTE: Prices are based on shipping destination.
The shipping destinations are:
*Pricing for Shipping Destination selected:
International
| Price(s) in US dollars ($) | |
| Cryorecovery Fee | $2470.00 | | | |
Supply Details
| 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. One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services: Tel: 1-800-422-6423 or 1-207-288-5845; Email: jaxservices@jax.org.
Genomic DNA is available for this strain from the Mouse DNA Resource.
|
| Licensing | See General Terms and Conditions below
|
| Control Information | View Control Information in Strain Details.
View Control Pricing Information for JAX® Strains. |
General Terms and Conditions
View
JAX® Mice & Services Conditions of Use.
The Jackson Laboratory's Genotype Promise
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
Purchasing Information
JAX® Mice Orders
Surgical Services
Contact Information
Orders & Technical Support
Tel: 800.422.6423 or 207.288.5845
Fax: 207.288.6150
Technical Support Email Form
Go to JAX® Mice Query Form