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. Species laboratory mouse Generation +pN1 Generation Definitions   Donating Investigator N. Carolyn Schanen,   Alfred I. duPont Hospital for Children

Description
These Mecp2*R255X mice contain the amino acid mutation R255X in exon 4 of the endogenous methyl CpG binding protein 2 (Mecp2) gene. This mutation introduces a premature stop codon within the transcription repression domain-nuclear localization signal region, analogous to a Mecp2 mutation found in humans with Rett Syndrome (RTT). Female carriers are viable and fertile while male hemizygotes have a reduced life span. RTT is a neurodevelopmental disorder which can be caused by point mutations in the Mecp2 gene. Mecp2 is located on the X-chromosome, and exhibits increased expression in the central nervous system during neuronal maturation. Female carriers of the R255X mutation may develop normally or may exhibit a mild phenotype including some obesity, reduced coordination, and lethargy. This is presumably in part due to inactivation of the X-chromosome and the presence of a compensatory wildtype X-chromosome. Hemizygous males develop a severe neurological phenotype. Specifically, males begin to develop hindlimb clasping and exhibit excessive weight gain by 3 weeks of age, being up to 10g heavier than their littermates. They also display behavior defects such as pauses, abnormal gait, and impaired coordination. These mice may be useful for studying impaired neurodevelopmental maturation associated with human RTT.

Development
A targeting construct was designed to insert a loxP-flanked neomycin (neo) resistance cassette downstream of exon 3 of the methyl CpG binding protein 2 (Mecp2) gene. A point mutation was introduced in exon 4, corresponding to human amino acid 255, resulting in a non-sense mutation, R255X, commonly found in humans carrying Rett Syndrome (RTT). This targeting construct was electroporated into 129Sv/Pas-derived embryonic stem (ES) cells and correctly targeted ES cells were injected into blastocysts. The resulting chimeric males were bred to females carrying Cre-recombinase on a C57BL/6 background to remove the floxed selection cassette. Female Mecp2*R255X mice, lacking the floxed neo cassette, were then crossed to male B6129SF1/J (Stock No. 101043). Upon arrival at The Jackson Laboratory, mutant mice were bred to B6129SF1/J mice for at least one generation to establish the colony.

Control Information

	Control
	Wild-type from the colony
	101043 B6129SF1/J	(approximate)
Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Mecp2

003890	B6.129P2(C)-Mecp2tm1.1Bird/J
007177	B6.129P2-Mecp2tm1Bird/J
006849	B6.129P2-Mecp2tm2Bird/J
005439	B6.129S-Mecp2tm1Hzo/J
018282	B6.Cg-Mapttm1(Mecp2)Jae/LimmJ
006847	B6;129P2-Mecp2tm1Bird/J
017741	B6N.129(Cg)-Mecp2tm1.1Joez/J
016207	B6N.129-Mecp2tm1.1Vnar/J
014610	STOCK Mecp2tm3.1Bird/J

View Strains carrying other alleles of Mecp2     (9 strains)

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. Angelman Syndrome; AS   (MECP2) Autism, Susceptibility to, X-Linked 3; AUTSX3   (MECP2) Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations   (MECP2) Lubs X-Linked Mental Retardation Syndrome; MRXSL   (MECP2) Mental Retardation, X-Linked, Syndromic 13; MRXS13   (MECP2) Rett Syndrome; RTT   (MECP2)

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

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

Mecp2^tm1.1Irsf/Mecp2⁺

        involves: 129S/Sv * C57BL/6

• growth/size phenotype
• increased body weight
  • moderate obesity seen in some female mice   (MGI Ref ID J:185639)
• behavior/neurological phenotype
• impaired coordination
  • in some female mice   (MGI Ref ID J:185639)
• lethargy
  • in some female mice   (MGI Ref ID J:185639)

Mecp2^tm1.1Irsf/Y

        involves: 129S/Sv * C57BL/6

• behavior/neurological phenotype
• abnormal gait   (MGI Ref ID J:185639)
• impaired coordination   (MGI Ref ID J:185639)
• limb grasping
  • hind limb clasping   (MGI Ref ID J:185639)
• growth/size phenotype
• increased body weight
  • exhibit excessive weight gain   (MGI Ref ID J:185639)
  • up to 10g heavier than controls at 3 weeks of age   (MGI Ref ID J:185639)

View Research Applications

Research Applications

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

Neurobiology Research
Behavioral and Learning Defects
Neurodevelopmental Defects
      Autism
      Rett's syndrome

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		Mecp2tm1.1Irsf
Allele Name		targeted mutation 1.1, International Rett Syndrome Foundation
Allele Type		Targeted (knock-in)
Common Name(s)		Mecp2*R255X;
Strain of Origin		129S2/SvPas
Promoter		Mecp2, methyl CpG binding protein 2, mouse, laboratory
Molecular Note		A targeting construct was designed to insert a loxP-flanked neomycin (neo) resistance cassette downstream of exon 3 of the methyl CpG binding protein 2 (Mecp2) gene. A point mutation was introduced in exon 4, corresponding to human amino acid 255, resulting in a non-sense mutation, R255X, commonly found in humans carrying Rett Syndrome (RTT). Cre mediated recombination removed the floxed selection cassette. [MGI Ref ID J:185639]

Genotyping

Genotyping Information

Genotyping Protocols

Mecp2^tm1.1Irsf, Standard PCR

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Mecp2^tm1.1Irsf related

International Rett Syndrome Foundation. 2012. A targeted allele of Mecp2 MGI Direct Data Submission :.  [MGI Ref ID J:185639]

Health & husbandry

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.

Health & Colony Maintenance Information

Animal Health Reports

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

Colony Maintenance

Breeding & Husbandry	When maintaining a live colony, heterozygous (carrier) females may be bred to B6129SF1/J mice (Stock No. 101043). Mutation is X-linked. Hemizygous (carrier) males have a reduced life span.

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls

Control Information

	Control
	Wild-type from the colony
	101043 B6129SF1/J	(approximate)
Considerations for Choosing Controls
Control Pricing Information for Genetically Engineered Mutant Strains.

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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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