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Strain Name:

B6C3Fe a/a-Scyl1mdf/J

Stock Number:

000224

Availability:

Repository-Cryopreserved


Price and Supply Information

General Terms and Conditions

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
Specieslaboratory mouse
GenerationN12 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)
      • 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
  • 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
    • 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

Gene & Allele Details

Allele Symbol Scyl1mdf
Allele Name muscle deficient
Strain of OriginB6.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

  Control
   Untyped from the colony
 
  Considerations for Choosing Controls
  Control Pricing Information for JAX® GEMM® Strains

Related Strains

Strains carrying   a allele
003879   B10;TFLe-a/a T tf/+ tf/J
001538   B6 x B6C3Sn a/A-T(1;9)27H/J
000916   B6 x B6C3Sn a/A-T(5;12)31H/J
000602   B6 x B6C3Sn a/A-T(8;16)17H/J
000618   B6 x FSB/GnEi a/a Ctslfs/J
000577   B6 x STOCK a Oca2p Hps5ru2 Ednrbs/J
000601   B6 x STOCK a/a T(7;18)50H/J
000592   B6 x STOCK T(2;4)13H a/J
000001   B6.C3 A/a Mgrn1md/J
000785   B6;D2-a Es1e/J
000604   B6C3 a/A-T(10;13)199H +/+ Lystbg-J/J or Lystbg-2J/J
002807   B6C3Fe a/a-Meox2fla/J
001037   B6C3Fe a/a-Agtpbp1pcd/J
000221   B6C3Fe a/a-Alx4lst-J/J
002062   B6C3Fe a/a-Atp7aMo-8J/J
001756   B6C3Fe a/a-Cacng2stg/J
001815   B6C3Fe a/a-Col1a2oim/J
000231   B6C3Fe a/a-Csf1op/J
000209   B6C3Fe a/a-Dh/J
000211   B6C3Fe a/a-Dstdt-J/J
000210   B6C3Fe a/a-Edardl-J/J
000207   B6C3Fe a/a-Edaraddcr/J
000182   B6C3Fe a/a-Eef1a2wst/J
001278   B6C3Fe a/a-Glra1spd/J
000241   B6C3Fe a/a-Glrbspa/J
002875   B6C3Fe a/a-Hoxd13spdh/J
000304   B6C3Fe a/a-Krt71Ca Scn8amed-J/J
000226   B6C3Fe a/a-Largemyd/J
000636   B6C3Fe a/a-Lmx1adr-J/J
001280   B6C3Fe a/a-Lse/J
001573   B6C3Fe a/a-MitfMi/J
001035   B6C3Fe a/a-Napahyh/J
000181   B6C3Fe a/a-Otogtwt/J
000278   B6C3Fe a/a-Papss2bm Hps1ep Hps6ru/J
000205   B6C3Fe a/a-Papss2bm/J
002078   B6C3Fe a/a-Pcdh15av-2J/J
000246   B6C3Fe a/a-Pitpnavb/J
001430   B6C3Fe a/a-Ptch1mes/J
000506   B6C3Fe a/a-Qkqk/J
000235   B6C3Fe a/a-Relnrl/J
000237   B6C3Fe a/a-Rorasg/J
000290   B6C3Fe a/a-Sox10Dom/J
000230   B6C3Fe a/a-Tcirg1oc/J
003612   B6C3Fe a/a-Trak1hyrt/J
001512   B6C3Fe a/a-Ttnmdm/J
001607   B6C3Fe a/a-Unc5crcm/J
000005   B6C3Fe a/a-Wc/J
000243   B6C3Fe a/a-Wnt1sw/J
000248   B6C3Fe a/a-Xpl/J
001750   B6C3Fe a/a-XsJ/J
000624   B6C3Fe a/a-anx/J
003020   B6C3Fe a/a-dep/J
002018   B6C3Fe a/a-din/J
002339   B6C3Fe a/a-nma/J
000240   B6C3Fe a/a-soc/J
000063   B6C3Fe a/a-sy/J
001055   B6C3Fe a/a-tip/J
000245   B6C3Fe a/a-tn/J
000296   B6C3Fe-a/a Hoxa13Hd Mcoln3Va-J/J
000019   B6C3Fe-a/a-Itpr1opt/J
001022   B6C3FeF1/J a/a
000971   B6EiC3 a/A-Och/J
000551   B6EiC3 a/A-Tbx15de-H/J
006450   B6EiC3 a/A-Vss/J
000557   B6EiC3-+ a/LnpUl A/J
000503   B6EiC3Sn a/A-Gy/J
001811   B6EiC3Sn a/A-Otcspf-ash/J
002343   B6EiC3Sn a/A-Otcspf/J
000391   B6EiC3Sn a/A-Pax6Sey-Dey/J
001924   B6EiC3Sn a/A-Ts(1716)65Dn
001923   B6EiC3Sn a/A-Ts(417)2Lws Tim/J
000225   C3FeLe.B6 a/a-Ptpn6me/J
000198   C3FeLe.B6-a/J
000291   C3FeLe.Cg-a/a Hm KitlSl Krt71Ca-J/J
001886   C3HeB/FeJLe a/a-gnd/J
000584   C57BL/6J-+ T(1;2)5Ca/a +/J
000284   CWD/LeJ
000670   DBA/1J
000671   DBA/2J
001057   HPT/LeJ
000260   JGBF/LeJ
000265   MY/HuLeJ
000308   SSL/LeJ
000994   STOCK a Myo5ad Mregdsu/J
000064   STOCK a Tyrp1b Sisi/J
002238   STOCK a Tyrp1b shmy/J
001433   STOCK a skt/J
000579   STOCK a tp/J
000319   STOCK a us/J
002648   STOCK a/a Cln6nclf/J
000317   STOCK a/a Egfrwa2/J
000302   STOCK a/a MitfMi-wh +/+ Itpr1opt/J
000286   STOCK a/a Myo5ad fd/+ +/J
000206   STOCK a/a Tyrc-h/J
001432   STOCK a/a Tyrp1b sks/Tyrp1b +/J
000281   STOCK a/a ma ft/ma ft/J
000312   STOCK stb + a/+ Fignfi a/J
000596   STOCK T(2;11)30H/+ x AEJ-a Gdf5bp-H/J or A/J-a Gdf5bp-J/J
000970   STOCK T(2;16)28H A/T(2;16)28H a/J
000590   STOCK T(2;4)1Sn a/J
000594   STOCK T(2;8)26H a/T(2;8)26H a Tyrp1+/Tyrp1b/J
000623   TR/DiEiJ
View Strains carrying   a     (102 strains)

Strains carrying other alleles of a
003301   (C57BL/6J x C3H-Eya1bor)F1/J
000251   AEJ.Cg-ae +/a Gdf5bp-H/J
000202   AEJ/Gn-bd/J
000199   AEJ/GnLeJ
000427   B10.CE-H13b Aw/(30NX)SnJ
000420   B10.LP-H13b Aw/Sn
000477   B10.PA-Pldnpa H3e at/SnJ
000419   B10.UW-H3b we Pax1un at/SnJ
000593   B6 x B6CBCa Aw-J/A-Grid2Lc T(2;6)7Ca MitfMi-wh/J
000502   B6 x B6CBCa Aw-J/A-Myo5aflr Gnb5flr/J
000599   B6 x B6CBCa Aw-J/A-T(5;13)264Ca KitW-v/J
002083   B6 x B6EiC3 a/A-T(7;16)235Dn/J
000507   B6 x B6EiC3 a/A-Otcspf/J
002016   B6(Cg)-Aw-J EdaTa-6J Chr YB6-Sxr/EiJ
000552   B6-Aw-J-EdaTa-6J.Cg-Sxr
001730   B6-Aw-J-EdaTa-6J.Cg-Sxrb Hya-/J
000841   B6-Aw-J.CBy-EdaTa-By/J
001809   B6-Aw-J.Cg-EdaTa-6J +/+ ArTfm/J
000600   B6-Gpi1b x B6CBCa Aw-J/A-T(7;15)9H Gpi1a/J
000769   B6.C/(HZ18)By-at-44J/J
000203   B6.C3-Aiy/a/J
000017   B6.C3Fe-Avy/J
000628   B6.CE-A Amy1b Amy2b/J
005505   B6.Cg-Ay Slc7a11sut/LmLlp
000021   B6.Cg-Ay/J
001572   B6.Cg-am-J/J
100409   B6129PF1/J-Aw-J/Aw
004200   B6;CBACa Aw-J/A-Npr2cn-2J/J
000505   B6C3 Aw-J/A-Mutedmu/J
000604   B6C3 a/A-T(10;13)199H +/+ Lystbg-J/J or Lystbg-2J/J
000065   B6C3Fe a/a-we Pax1un at/J
000314   B6CBACa Aw-J/A-EdaTa/J-XO
000501   B6CBACa Aw-J/A-Aifm1Hq/J
001046   B6CBACa Aw-J/A-Grid2Lc/J
000500   B6CBACa Aw-J/A-Gs/J
002703   B6CBACa Aw-J/A-Hydinhy3/J
000247   B6CBACa Aw-J/A-Kcnj6wv/J
000287   B6CBACa Aw-J/A-Plp1jp EdaTa/J
000515   B6CBACa Aw-J/A-SfnEr/J
000242   B6CBACa Aw-J/A-spc/J
000288   B6CBACa Aw-J/A-we a Mafbkr/J
001201   B6CBACaF1/J-Aw-J/A
001752   B6CBCa Aw-J/A-T(7;15)9H/J
006450   B6EiC3 a/A-Vss/J
000557   B6EiC3-+ a/LnpUl A/J
000504   B6EiC3Sn a/A-Cacnb4lh/J
000553   B6EiC3Sn a/A-Egfrwa2 Wnt3avt/J
001811   B6EiC3Sn a/A-Otcspf-ash/J
002343   B6EiC3Sn a/A-Otcspf/J
001923   B6EiC3Sn a/A-Ts(417)2Lws Tim/J
000200   C3FeB6 A/Aw-J-Ankank/J
000638   C3FeB6 A/Aw-J-Spnb4qv-J/J
001203   C3FeB6F1/J A/Aw-J
001272   C3H/HeSnJ-Ahvy/J
000099   C3HeB/FeJ-Avy/J
000338   C57BL/6J Aw-J-EdaTa-6J/J
000258   C57BL/6J-Ai/a/J
000774   C57BL/6J-Asy/a/J
000569   C57BL/6J-Aw-J-EdaTa +/+ ArTfm/J
000051   C57BL/6J-Aw-J/J
000055   C57BL/6J-at-33J/J
000070   C57BL/6J-atd/J
002468   KK.Cg-Ay/J
000262   LS/LeJ
000283   LT.CAST-A/J
001759   STOCK A Tyrc Sha/J
001427   STOCK Aw us/J
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:

        USA, Canada and Mexico

Price(s) in US dollars ($)
Cryorecovery Fee $1900.00

Supply Details

Standard SupplyRepository-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.
Genomic DNA is available for this strain from the Mouse DNA Resource.

LicensingSee General Terms and Conditions below  
Control InformationView Control Information in Strain Details.
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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.
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