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Strain Name:

B6.129S-Mecp2tm1Hzo/J

Stock Number:

005439

Availability:

Repository- Live

Price and Supply Information

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Additional Licensing and Use Restrictions

Genes & Alleles   Mecp2;   Mecp2tm1Hzo;

Product Information

Strain Details

Type JAX® GEMM® Strain - Congenic
Additional information on JAX® GEMM® Strains.
Type JAX® GEMM® Strain - Mutant Strain
Type JAX® GEMM® Strain - Targeted Mutation
Mating SystemHeterozygote x Hemizygote         (Female x Male)
Specieslaboratory mouse
Donating Investigator Huda Zoghbi,   Baylor College of Medicine
Generation?+N2F2 (31-DEC-07)

Strain Description
Mice that are homozygous for the targeted mutation are viable and fertile. A truncated gene product (protein) is detected by immunohistochemical analysis of brain tissue. By 6 weeks of age, male mutant mice begin to exhibit tremors, progressive motor dysfunction, oily disheveled fur, hypoactivity, myoclonic seizures, and kyphosis. Approximately 10% of male mutants die between 10 and 12 months of age. Heterozygous female mice exhibit a milder phenotype. All mutant male mice and 62% of female heterozygotes exhibit a repetitive clasping movement of their forelimbs and exhibit tremors. The Donating Investigator reports that the myoclonic seizures, kyphosis and reduced survival were observed in aged male mutants on a 129/SvEv genetic background. This mutant mouse strain may be useful in studies of Rett Syndrome.

The Howard Hughes Medical Institute and the National Institutes of Health supported the creation of this model. Importation of this model was supported by the Rett Syndrome Research Foundation.

Strain Development
A targeting vector containing loxP-flanked neomycin resistance and herpes simplex virus thymidine kinase genes was used to disrupt exon 4, with a stop codon inserted after codon 308. The construct was electroporated into 129S7/SvEvBrd-Hprtb-m32derived AB2.2 embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6 blastocysts. The resulting chimeric animals were crossed to C57BL/6J mice, and then backcrossed to the same for 12 generations.

Related Disease (OMIM) Terms

Rett Syndrome; RTT
Mammalian Phenotype Terms assigned by genotype

The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.

Mecp2tm1Hzo/Mecp2+

        129S7/SvEvBrd-Mecp2tm1Hzo
  • behavior/neurological phenotype
  • abnormal behavior (J:78009)
    • females display milder and more variable features of Rett Syndrome than males, presumably due to differences in the pattern of X chromosome inactivation
    • abnormal involuntary movement (J:78009)
      • 69% of females display stereotypic forepaw movements (rapid and repetitive movement of the forelimbs, often bring them together)
      • tremors (J:78009)
        • 62% of females exhibit tremors
    • impaired coordination (J:78009)
      • in the wire suspension test, females show normal performance at 5-6 weeks of age, but are impaired at older ages (35-39 weeks)
      • females perform as well as wild type on a thin horizontal wooden dowel, even at 35-39 weeks of age

Mecp2tm1Hzo/Y

        involves: 129S7/SvEvBrd * C57BL/6J
  • life span-post-weaning/aging
  • premature death (J:78009)
    • most survive to at least one year of age, however about 10% die after 10 months of age
  • behavior/neurological phenotype
  • abnormal motor capabilities/coordination/movement (J:78009)
    • abnormal involuntary movement (J:78009)
      • mutants rapidly and repetitively move their forelimbs, often bringing them together and sometimes holding them together for several seconds
      • tremors (J:78009)
        • develop subtle tremors at around 6 weeks of age that worsen with age and are visibly apparent by 4 months of age
    • abnormal locomotor activity (J:78009)
      • mutants rapidly and repetitively move their forelimbs, often bringing them together and sometimes holding them together for several seconds
      • decreased vertical activity (J:78009)
        • although overall level of rearing is not significantly lower, males rear less during the last 10 min interval of testing
      • hypoactivity (J:78009)
        • travel shorter distances and spend less time walking in the open-field test
        • show normal activity during the first 10 min interval but reduced activity during the second and third 10 min time intervals
    • impaired coordination (J:78009)
      • young mice perform well on motor function tests but become deficient as they age
      • exhibit a small impairment in the ability to stay on a modified rotarod (covered with duct tape to eliminate the grips), however do not exhibit defects in forepaw grip strength
      • in a vertical pole test, mutants fall off the pole more readily than wild type
      • in a wire suspension test, mutants drop earlier than wild type
      • on a thin horizontal wooden dowel, mutants rapidly lose balance and fall off the dowel
  • abnormal social investigation (J:78009)
    • in a tube test for social interaction, wild type mice typically retreated when confronted with mutants, while mutants did not
    • total time that wild type intruder mice spent interacting with mutants is significantly shorter than the time spent interacting with wild type mice
  • increased anxiety-related response (J:78009)
    • amount of exploratory behavior in the center of the open field does not change during testing like in wild type mice which increase activity in the center space over time, likely reflecting heightened anxiety
  • seizures (J:78009)
    • spontaneous behavioral myoclonic jerks and seizures are seen in some mice after 8 months of age
  • nervous system phenotype
  • seizures (J:78009)
    • spontaneous behavioral myoclonic jerks and seizures are seen in some mice after 8 months of age
  • cellular phenotype
  • abnormal nucleus morphology (J:78009)
    • exhibit histone H3 hyperacetylation in the cerebellum, cerebral cortex, and spleen, indicating that chromatin architecture is abnormal
  • skeleton phenotype
  • kyphosis (J:78009)
    • 40% develop kyphosis after 5 months of age
  • skin/coat/nails phenotype
  • disheveled coat (J:78009)
    • after 8 months of age, fur is noticeably more disheveled
  • greasy coat (J:78009)
    • after 8 months of age, fur is noticeably more oily

Mecp2tm1Hzo/Y

        129S7/SvEvBrd-Mecp2tm1Hzo
  • behavior/neurological phenotype
  • abnormal involuntary movement (J:78009)
    • 100% of males display stereotypic forepaw movements (rapid and repetitive movement of the forelimbs, often bring them together)
    • tremors (J:78009)
      • 100% of males display tremors
  • impaired coordination (J:78009)
    • performance on a thin horizontal wooden dowel is impaired in older (35-36 weeks of age) but not younger (8-9 weeks of age) males
    • in the wire suspension test, young males (8-9 weeks of age drop earlier than wild type

Gene & Allele Details

Allele Symbol Mecp2tm1Hzo
Allele Name targeted mutation 1, Huda Zoghbi
Common Name(s) Mecp2308;
Mutation Made By Huda Zoghbi,   Baylor College of Medicine
Strain of Origin129S7/SvEvBrd-Hprt1
ES Cell Line NameAB2.2
ES Cell Line Strain129S7/SvEvBrd-Hprt1
Gene Symbol and Name Mecp2, methyl CpG binding protein 2
Chromosome X
Gene Common Name(s) 1500041B07Rik; AUTSX3; BB130002; D630021H01Rik; DKFZp686A24160; MRX16; MRX79; MRXS13; MRXSL; Mbd5; PPMX; RIKEN cDNA 1500041B07 gene; RIKEN cDNA D630021H01 gene; RTS; RTT; WBP10; expressed sequence BB130002;
Molecular Note A stop codon and a floxed neo cassette were inserted into exon 4. The stop codon was inserted downstream of codon 308, allowing translation of the methyl-CpG binding domain and the transcriptional repression domain. Western blot analysis showed that onlytruncated protein was present in homozygous mutant mice. Staining of brain tissue with a carboxy terminal antibody confirmed the absence of normal protein. [J:78009]

Control Information

  Control
   Wild-type from the colony
   000664 C57BL/6J
 
  Considerations for Choosing Controls
  Control Pricing Information for JAX® GEMM® Strains

Genotyping Protocols

Mecp2 tm1Hzo

Colony Maintenance

Breeding & HusbandryCan be maintained female homozygote mated to hemizygote male, this mating scheme tends to have a lower productivy rate. The breeding scheme of heterozygote female mated to hemizygote male increases rate of productivity.
Diet Information LabDiet® 5K52/5K67

Related Strains

Strains carrying other alleles of Mecp2
003890   B6.129P2(C)-Mecp2tm1.1Bird/J
006847   B6;129P2-Mecp2tm1Bird/J
006849   B6;129P2-Mecp2tm2Bird/J
View Strains carrying other alleles of Mecp2     (3 strains)

Additional Web Information

Congenic Nomenclature
Genetic Quality Control Annual Report

Animal Health Reports

Room Number           AX12

Research Applications

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

Mecp2tm1Hzo related

Mouse/Human Gene Homologs
Rett syndrome

Neurobiology Research
Ataxia (Movement) Defects
Behavioral and Learning Defects
Neurodevelopmental Defects (Rett's syndrome)

References

Selected Reference(s)

Shahbazian M; Young J; Yuva-Paylor L; Spencer C; Antalffy B; Noebels J; Armstrong D; Paylor R; Zoghbi H. 2002. Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. Neuron 35(2):243-54. [PubMed: 12160743]  [J:78009]

Additional References

Price and Supply Information

Strain Name: B6.129S-Mecp2tm1Hzo/J
Stock Number: 005439

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 ($)Genotype(s) Provided
Individual Mouse Price $203.80Heterozygous for Mecp2tm1HzoFemale
Individual Mouse Price $203.80Homozygous for Mecp2tm1HzoFemale
Individual Mouse Price $203.80Hemizygous for Mecp2tm1HzoMale
Pair $407.60Heterozygous for Mecp2tm1Hzo x Hemizygous for Mecp2tm1Hzo
Pair $407.60Homozygous for Mecp2tm1Hzo x Hemizygous for Mecp2tm1Hzo

Supply Details

Standard SupplyRepository-Live. A collection of over 1000 strains maintained as live colonies. Individual colonies are sized to meet current customer demand. Delivery for orders of 10 mice or less ranges on average from one to eight weeks; mice are generally shipped between four to six weeks of age with a maximum shipping age of ~nine weeks. Colony sizes do not generally support stringent age specifications for large volumes of mice; however custom orders and larger quantities of mice are easily arranged. Estimated ship dates for all orders provided within 48 hours of order placement.
Supply Notes Histology and Tissue Collection Services are available for all JAX® Mice strains. For more information, please contact Customer Service at orderquest@jax.org or 1-800-422-6423.
Usually shipped between four and eight weeks of age.
This strain is included in the Induced Mutant Resource Colony collection.
Genomic DNA is available for this strain from the Mouse DNA Resource.
LicensingSee General Terms and Conditions below for Licensing and Use Restrictions  
Control InformationView Control Information in Strain Details.
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General Terms and Conditions

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Effective September 26, 2007: License Requirements for Strains using Cre-lox Technology only apply in Canada, see Licenses for Strains using Cre-lox Technology.

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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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