The amino acid mutation T158A was introduced into exon 4 of the mouse methyl-CpG binding protein 2 (Mecp2) gene, resulting in a phenotypic pattern similar to that observed in patients with Rett Syndrome.
Due to demand, this colony is being expanded. An estimated distribution date is provided above.
Zhaolan (Joe) Zhou, University of Pennsylvania
Genetic Background | Generation |
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|
Allele Type | Gene Symbol | Gene Name |
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Targeted (Humanized sequence) | Mecp2 | methyl CpG binding protein 2 |
Due to demand, this colony is being expanded. An estimated distribution date is provided above.
These Mecp2T158A mice contain a missense mutation in exon 4 of the endogenous methyl-CpG binding protein 2 (Mecp2) gene. This mutation introduces the amino acid mutation T158A in the methyl CpG binding domain (MBD) of MeCP2, analogous to a MECP2 mutation found in humans with Rett Syndrome (RTT). RTT is an X-linked neurodevelopmental disorder that can be caused by mutations in the Mecp2 gene. Hemizygous males with the T158A mutation exhibit hypoactivity, poor motor control, irregular breathing, altered anxiety, and impaired learning and memory after 5-6 weeks of age. They are infertile and have a shortened lifespan, with 50% of males dying by 4 months of age. Symptoms in heterozygous females are obvious after 17 weeks of age. Heterozygous females are viable and fertile. The differences seen between the sexes is because Mecp2 is an X-linked gene. Due to X-chromosome inactivation, heterozygous females have mosaic expression of wild-type MeCP2.
A targeting construct was designed to insert a loxP-flanked neomycin (neo) resistance cassette upstream of exon 4 of the methyl-CpG binding protein 2 (Mecp2) gene. This mutation introduces the amino acid mutation T158A found in humans carrying the neurodevelopmental disorder Rett Syndrome (RTT). This targeting construct was electroporated into 129Sv derived embryonic stem (ES) cells and correctly targeted ES cells were injected into C57BL/6 blastocysts. Chimeric males were bred to C57BL/6 females and offspring were bred to B6.FVB-Tg(EIIa-cre)C5379Lmgd/J transgenic mice (Stock No. 003724) to remove the neo cassette. The resulting offspring were backcrossed to C57BL/6NCrL for at least 10 generations. Upon arrival at The Jackson Laboratory, mutant mice were bred to C57BL/6NJ mice (Stock No. 005304) for at least one generation to establish the colony.
Allele Name | targeted mutation 1.1, Zhaolan Zhou |
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Allele Type | Targeted (Humanized sequence) |
Allele Synonym(s) | MeCP2 T158A; Mecp2T158A |
Gene Symbol and Name | Mecp2, methyl CpG binding protein 2 |
Gene Synonym(s) | |
Promoter | Mecp2, methyl CpG binding protein 2, mouse, laboratory |
Strain of Origin | 129 |
Chromosome | X |
Molecular Note | A targeting construct was designed to insert a loxP-flanked neomycin (neo) resistance cassette upstream of exon 4. A point mutation was introduced in exon 4, resulting in the amino acid mutation, T158A, found in humans carrying the neurodevelopmental disorder Rett Syndrome (RTT). An additional point mutation was introduced at codon 160 to produce a silent mutation that allowed for identification of targeted ES cells. Cre-mediated recombination removed the neo cassette. |
Mutations Made By | Zhaolan (Joe) Zhou, University of Pennsylvania |
When maintaining a live colony, heterozygous females may be bred to wildtype males. Hemizygous males are infertile and have a shortened lifespan, with 50% of males dying by 4 months of age.
When using the MeCP2 T158A mouse strain in a publication, please cite the originating article(s) and include JAX stock #017741 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Females are Heterozygous or wild-type and males are Hemizygous or Non Carrier for Mecp2<tm1.1Joez> |
Frozen Mouse Embryo | B6N.129(Cg)-Mecp2<tm1.1Joez>/J Frozen Embryos | $2595.00 |
Frozen Mouse Embryo | B6N.129(Cg)-Mecp2<tm1.1Joez>/J Frozen Embryos | $2595.00 |
Frozen Mouse Embryo | B6N.129(Cg)-Mecp2<tm1.1Joez>/J Frozen Embryos | $3373.50 |
Frozen Mouse Embryo | B6N.129(Cg)-Mecp2<tm1.1Joez>/J Frozen Embryos | $3373.50 |
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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. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
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