Strain Name:

B6;129S7-L1camtm1Sor/J

Stock Number:

003120

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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

Type Mutant Stock; Targeted Mutation;
Additional information on Genetically Engineered and Mutant Mice.
Visit our online Nomenclature tutorial.
Specieslaboratory mouse
 
Donating Investigator IMR Colony,   The Jackson Laboratory

Appearance
black
Related Genotype: a/a

white bellied agouti
Related Genotype: Aw/?

Description
The L1 gene is localized to the X chromosome. As a result, hemizygous males are affected and the mutation has to be propagated through females. Male mice hemizygous for the L1camtm1Sor targeted mutation have defects in the guidance of axons of the corticospinal tract. A substantial proportion of axons do not take their normal crossed course to the dorsal column at the pyramidal decussation. There is also a varying, but reduced number of corticospinal axons in the dorsal columns of the spinal cord.

Control Information

  Control
   Wild-type from the colony
 
  Considerations for Choosing Controls

Related Strains

Strains carrying   L1camtm1Sor allele
003518   129/Sv-L1camtm1Sor/J
View Strains carrying   L1camtm1Sor     (1 strain)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested.
Corpus Callosum, Partial Agenesis of, X-Linked   (L1CAM)
Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius; HSAS   (L1CAM)
MASA Syndrome   (L1CAM)
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

L1camtm1Sor/Y

        either: 129S7/SvEvBrd-L1camtm1Sor or (129S7/SvEvBrd * C57BL/6J)F1
  • mortality/aging
  • *normal* mortality/aging
    • males survive >18 months   (MGI Ref ID J:45013)
    • partial prenatal lethality
      • males are born at ~40% of expected frequency (84/211 total males)   (MGI Ref ID J:45013)
  • growth/size/body phenotype
  • decreased body size
    • initially males are ~60% size of wild-type littermates   (MGI Ref ID J:45013)
    • slow postnatal weight gain
      • by adulthood, males attain ~80% the size of wild-type littermates   (MGI Ref ID J:45013)
  • nervous system phenotype
  • *normal* nervous system phenotype
    • the optic chiasm, corpus callosum, and spinal commissural projection in mutants show normal axonal pathfinding and crossing projections, in contrast to the pyramidal decussation   (MGI Ref ID J:45013)
    • abnormal axon guidance
      • in P3-P5 animals, very few corticospinal axons grow to the contralateral dorsal columns at the pyramidal decussation; many axons instead turn ventrally at midline and enter the contralateral pyramid   (MGI Ref ID J:45013)
      • in one animal, aberrant axons turn rostrally in contralateral pyramid and project back towards midbrain; in other animals, axons can't be traced beyond decussation   (MGI Ref ID J:45013)
      • no axons are apparent caudal to the decussation, either ventrally or dorsally   (MGI Ref ID J:45013)
    • abnormal corticospinal tract morphology
      • in adult males examined, corticospinal axons project normally to the medulla, but at the level of the decussation, a substantial portion of axons fail to cross the midline and instead pass ipsilaterally into the dorsal columns   (MGI Ref ID J:45013)
      • no axon labeling is detected more caudally than the cervical spinal cord in male mutants   (MGI Ref ID J:45013)
  • behavior/neurological phenotype
  • abnormal motor capabilities/coordination/movement   (MGI Ref ID J:45013)
    • hindlimb paralysis
      • dragging of hindlimbs is observed in some mice >12 months of age   (MGI Ref ID J:45013)
  • reproductive system phenotype
  • *normal* reproductive system phenotype
    • although males are sterile, testis contain germ cells   (MGI Ref ID J:45013)
    • male infertility
      • some individuals are able to breed but most are effectively sterile   (MGI Ref ID J:45013)
  • vision/eye phenotype
  • enophthalmos
    • adult mutants have sunken eyes   (MGI Ref ID J:45013)
  • excessive tearing
    • adult mutants have lacrimous eyes   (MGI Ref ID J:45013)
  • pigmentation phenotype
  • abnormal coat/hair pigmentation
    • with age, mice on congenic 129/Sv agouti background develop patches of black fur on their backs   (MGI Ref ID J:45013)
  • integument phenotype
  • abnormal coat/hair pigmentation
    • with age, mice on congenic 129/Sv agouti background develop patches of black fur on their backs   (MGI Ref ID J:45013)
  • long toenails
    • mice have abnormally long hind-paw toenails (4-5 mm) on congenic 129/Sv background   (MGI Ref ID J:45013)
  • cellular phenotype
  • abnormal axon guidance
    • in P3-P5 animals, very few corticospinal axons grow to the contralateral dorsal columns at the pyramidal decussation; many axons instead turn ventrally at midline and enter the contralateral pyramid   (MGI Ref ID J:45013)
    • in one animal, aberrant axons turn rostrally in contralateral pyramid and project back towards midbrain; in other animals, axons can't be traced beyond decussation   (MGI Ref ID J:45013)
    • no axons are apparent caudal to the decussation, either ventrally or dorsally   (MGI Ref ID J:45013)

The following phenotype information is associated with a similar, but not exact match to this JAX® Mice strain.

L1camtm1Sor/Y

        involves: 129S7/SvEvBrd
  • growth/size/body phenotype
  • decreased body weight
    • mutants show reduced body weights   (MGI Ref ID J:47995)
  • nervous system phenotype
  • abnormal axon extension
    • cultured neurons grown on L1-Fc chimera (molecule of Fc region of human IgG and entire extracellular domain of human L1) show impaired ability to extend neurites compared to wild-type neurons; fewer neurons show outgrowth and extend shorter neurites compared to wild-type neurons   (MGI Ref ID J:47995)
  • abnormal brain morphology
    • total brain volume is significantly reduced compared to controls   (MGI Ref ID J:47995)
    • abnormal cerebellum morphology
      • cerebellar volume is significantly reduced compared to controls   (MGI Ref ID J:47995)
      • ratio between surface of cerebellum and surface of total brain (in midsagittal sections) is reduced compared to wild-type   (MGI Ref ID J:47995)
      • cerebellum vermis hypoplasia
        • average surface area of vermis is reduced compared to controls; ratio of surface area of vermis to cerebral cortex surface area is smaller   (MGI Ref ID J:47995)
        • hypoplasia is most prominent in lobule 6; one or two of the three sublobule of lobule 6 are underdeveloped or missing in mutants   (MGI Ref ID J:47995)
    • abnormal cerebral aqueduct morphology
      • shape is different in mutants; distal part connecting ampulla of aqueduct to fourth ventricle is longer in mutants   (MGI Ref ID J:47995)
    • abnormal fourth ventricle morphology
      • volume of fourth ventricle is increased compared to controls   (MGI Ref ID J:47995)
      • enlarged fourth ventricle
        • volume of fourth ventricle is increased compared to controls   (MGI Ref ID J:47995)
    • dilated lateral ventricles
      • significant dilation of lateral ventricles is observed   (MGI Ref ID J:47995)
  • abnormal sensory neuron innervation pattern
    • developing embryos have aberrant projections of sensory afferents in the spinal cord   (MGI Ref ID J:137627)
    • significant numbers of aberrant projections from the dorsal funiculus to the dorsal horn are evident at E12.5 compared to virtually none in the wild-type controls   (MGI Ref ID J:137627)
    • the number of aberrant projections increase at E13.5 and again at E14.5 and always remain at least 4-fold higher than controls   (MGI Ref ID J:137627)
    • by E14.5, the aberrant projections are also greater in length than controls with projections sometimes almost reaching the midline   (MGI Ref ID J:137627)
    • the number of aberrant projections is less than what is observed in Cntn2 null homozgyotes   (MGI Ref ID J:137627)
  • abnormal somatic nervous system physiology
    • cultured dorsal root ganglion cells have much less repulsion to ventral spinal cord explants than controls   (MGI Ref ID J:137627)
    • in culture, E13.5 sensory axons are completely refractory to repulsion mediated by Semaphorin-3A   (MGI Ref ID J:137627)
  • abnormal spinal cord dorsal horn morphology
    • developing embryos have aberrant projections of sensory afferents from the dorsal funiculus to the dorsal horn   (MGI Ref ID J:137627)
  • behavior/neurological phenotype
  • abnormal social/conspecific interaction
    • when a cage containing 2 female mice is placed in center of open field test cage, mutants do not adapt exploration pattern to this external stimulus; mutants still display circling of cage periphery while wild-type spend 45% of their exploratory behavior within 10 cm of the cage   (MGI Ref ID J:47995)
  • abnormal spatial learning
    • mutants show impaired spatial learning in Morris water-maze paradigm in probe trials where platform is removed; mutants spend significantly less time in target quadrant and majority of time is localized to periphery   (MGI Ref ID J:47995)
  • hypoactivity
    • mutants show ~50% of total cage activity that is displayed by wild-type controls   (MGI Ref ID J:47995)
  • impaired coordination
    • in rotarod trials, mutants display difficulties in maintaining balance, and fall on at least one attempt, compared to wild-type controls   (MGI Ref ID J:47995)
  • increased thigmotaxis
    • in open field test, most mutants spend less time exploring, instead running in circles around perimeter of cage   (MGI Ref ID J:47995)
  • cellular phenotype
  • abnormal axon extension
    • cultured neurons grown on L1-Fc chimera (molecule of Fc region of human IgG and entire extracellular domain of human L1) show impaired ability to extend neurites compared to wild-type neurons; fewer neurons show outgrowth and extend shorter neurites compared to wild-type neurons   (MGI Ref ID J:47995)
View Research Applications

Research Applications
This mouse can be used to support research in many areas including:

Developmental Biology Research
Internal/Organ Defects
      brain
Neurodevelopmental Defects
Perinatal Lethality

Neurobiology Research
Ataxia (Movement) Defects
Cortical Defects
Neurodevelopmental Defects

Research Tools
Neurobiology Research

L1camtm1Sor related

Neurobiology Research
Neural Tube Defects
Neurotrophic Factor Defects

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol L1camtm1Sor
Allele Name targeted mutation 1, Philippe Soriano
Allele Type Targeted (Null/Knockout)
Common Name(s) L1-;
Mutation Made ByDr. Philippe Soriano,   Mount Sinai School of Medicine
Strain of Origin129S7/SvEvBrd-Hprt<+>
ES Cell Line NameAB1
ES Cell Line Strain129S7/SvEvBrd-Hprt<+>
Gene Symbol and Name L1cam, L1 cell adhesion molecule
Chromosome X
Gene Common Name(s) CAML1; CD171; HSAS; HSAS1; Hyd; L1; L1-NCAM; MASA; MIC5; N-CAM-L1; N-CAML1; NCAM-L1; NCAML1; S10; SPG1;
Molecular Note A neomycin resistance cassette replaced the exons encoding the sixth immunoglobulin-like domain of the protein. Immunoblots of lysates of adult brains from homozygous mutant mice showed an absence of normal protein. [MGI Ref ID J:45013]

Genotyping

Genotyping Information

Genotyping Protocols

L1camtm1Sor,

MELT


L1camtm1Sor, Standard PCR


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Cohen NR; Taylor JS; Scott LB; Guillery RW; Soriano P; Furley AJ. 1998. Errors in corticospinal axon guidance in mice lacking the neural cell adhesion molecule L1. Curr Biol 8(1):26-33. [PubMed: 9427628]  [MGI Ref ID J:45013]

Additional References

L1camtm1Sor related

Bliss T; Errington M; Fransen E; Godfraind J; Kauer JA; Kooy RF; Maness PF; Furley AJ. 2000. Long-term potentiation in mice lacking the neural cell adhesion molecule L1. Curr Biol 10(24):1607-10. [PubMed: 11137015]  [MGI Ref ID J:67186]

Demyanenko GP; Maness PF. 2003. The L1 cell adhesion molecule is essential for topographic mapping of retinal axons. J Neurosci 23(2):530-8. [PubMed: 12533613]  [MGI Ref ID J:81739]

Demyanenko GP; Shibata Y; Maness PF. 2001. Altered distribution of dopaminergic neurons in the brain of L1 null mice. Brain Res Dev Brain Res 126(1):21-30. [PubMed: 11172883]  [MGI Ref ID J:67529]

Demyanenko GP; Tsai AY; Maness PF. 1999. Abnormalities in neuronal process extension, hippocampal development, and the ventricular system of L1 knockout mice. J Neurosci 19(12):4907-20. [PubMed: 10366625]  [MGI Ref ID J:55494]

Fransen E; D'Hooge R; Van Camp G; Verhoye M; Sijbers J; Reyniers E; Soriano P; Kamiguchi H; Willemsen R; Koekkoek SK; De Zeeuw CI; De Deyn PP; Van der Linden A; Lemmon V; Kooy RF; Willems PJ. 1998. L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns. Hum Mol Genet 7(6):999-1009. [PubMed: 9580664]  [MGI Ref ID J:47995]

Haney CA; Sahenk Z; Li C; Lemmon VP; Roder J; Trapp BD. 1999. Heterophilic binding of L1 on unmyelinated sensory axons mediates Schwann cell adhesion and is required for axonal survival. J Cell Biol 146(5):1173-84. [PubMed: 10477768]  [MGI Ref ID J:57603]

Hoschouer EL; Yin FQ; Jakeman LB. 2009. L1 cell adhesion molecule is essential for the maintenance of hyperalgesia after spinal cord injury. Exp Neurol 216(1):22-34. [PubMed: 19059398]  [MGI Ref ID J:146317]

Jakeman LB; Chen Y; Lucin KM; McTigue DM. 2006. Mice lacking L1 cell adhesion molecule have deficits in locomotion and exhibit enhanced corticospinal tract sprouting following mild contusion injury to the spinal cord. Eur J Neurosci 23(8):1997-2011. [PubMed: 16630048]  [MGI Ref ID J:108065]

Law CO; Kirby RJ; Aghamohammadzadeh S; Furley AJ. 2008. The neural adhesion molecule TAG-1 modulates responses of sensory axons to diffusible guidance signals. Development 135(14):2361-71. [PubMed: 18550718]  [MGI Ref ID J:137627]

Molnar Z; Higashi S; Lopez-Bendito G. 2003. Choreography of early thalamocortical development. Cereb Cortex 13(6):661-9. [PubMed: 12764042]  [MGI Ref ID J:102089]

Runyan SA; Phelps PE. 2009. Mouse olfactory ensheathing glia enhance axon outgrowth on a myelin substrate in vitro. Exp Neurol 216(1):95-104. [PubMed: 19100263]  [MGI Ref ID J:146302]

Runyan SA; Roy RR; Zhong H; Phelps PE. 2007. L1 cell adhesion molecule is not required for small-diameter primary afferent sprouting after deafferentation. Neuroscience 150(4):959-69. [PubMed: 18022323]  [MGI Ref ID J:130762]

Sakurai T; Lustig M; Babiarz J; Furley AJ; Tait S; Brophy PJ; Brown SA; Brown LY; Mason CA; Grumet M. 2001. Overlapping functions of the cell adhesion molecules Nr-CAM and L1 in cerebellar granule cell development. J Cell Biol 154(6):1259-73. [PubMed: 11564762]  [MGI Ref ID J:71828]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


Pricing for USA, Canada and Mexico shipping destinations View International Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $2525.00
Animals Provided

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.

Frozen Products

Price (US dollars $)
Frozen Embryo $1650.00

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryopreserved Embryos
    Available to most shipping destinations1
    This strain is also available as cryopreserved embryos2. Orders for cryopreserved embryos may be placed with our Customer Service Department. Experienced technicians at The Jackson Laboratory have recovered frozen embryos of this strain successfully. We will provide you enough embryos to perform two embryo transfers. The Jackson Laboratory does not guarantee successful recovery at your facility. For complete information on purchasing embryos, please visit our Cryopreserved Embryos web page.

    1 Shipments cannot be made to Australia due to Australian government import restrictions.
    2 Embryos for most strains are cryopreserved at the two cell stage while some strains are cryopreserved at the eight cell stage. If this information is important to you, please contact Customer Service.
  • Cryorecovery - Standard.
    Progeny testing is not required.

    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

Pricing for International shipping destinations View USA Canada and Mexico Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $3283.00
Animals Provided

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.

Frozen Products

Price (US dollars $)
Frozen Embryo $2145.00

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryopreserved Embryos
    Available to most shipping destinations1
    This strain is also available as cryopreserved embryos2. Orders for cryopreserved embryos may be placed with our Customer Service Department. Experienced technicians at The Jackson Laboratory have recovered frozen embryos of this strain successfully. We will provide you enough embryos to perform two embryo transfers. The Jackson Laboratory does not guarantee successful recovery at your facility. For complete information on purchasing embryos, please visit our Cryopreserved Embryos web page.

    1 Shipments cannot be made to Australia due to Australian government import restrictions.
    2 Embryos for most strains are cryopreserved at the two cell stage while some strains are cryopreserved at the eight cell stage. If this information is important to you, please contact Customer Service.
  • Cryorecovery - Standard.
    Progeny testing is not required.

    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Control Information

  Control
   Wild-type from the colony
 
  Considerations for Choosing Controls
  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.
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