Description

Strain Information

Type Congenic; Mutant Strain; Targeted Mutation; Additional information on Genetically Engineered Mutant Mice. Species laboratory mouse   Donating Investigator Adrian Bird,   University of Edinburgh

Description
These mice possess two functional loxP sites flanking exons 3-4 of the targeted gene on the X chromosome (the donating investigator reports that the middle loxP site is non-functional). Homozygous females and hemizygous males are viable and fertile. Northern blot analysis showed the expected mature transcript from the Mecp2^lox locus as well as a transcript in which the beta-globin intron was unspliced. When these mutant mice are bred to mice that express Cre recombinase, resulting offspring will have exons 3-4 deleted in the cre-expressing tissue(s). Mice with this X-linked floxed mutation may be useful in neurological and developmental studies of Rett syndrome.

For example, when crossed to a strain expressing Cre recombinase in nervous tissue (see Stock No. 003771), this mutant mouse strain develops a neurological phenotype that mimics Rett syndrome.

In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become available.

Control Information

	Control
	000664 C57BL/6J
Considerations for Choosing Controls

Related Strains

Strains carrying   Mecp2^tm1Bird allele

006847

B6;129P2-Mecp2tm1Bird/J

View Strains carrying   Mecp2^tm1Bird     (1 strain)

Strains carrying other alleles of Mecp2

003890	B6.129P2(C)-Mecp2tm1.1Bird/J
005439	B6.129S-Mecp2tm1Hzo/J
006849	B6;129P2-Mecp2tm2Bird/J

View Strains carrying other alleles of Mecp2     (3 strains)

Additional Web Information

Congenic Nomenclature
Cre-lox Systems

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms

Rett Syndrome; RTT - Models with phenotypic similarity to human disease where etiologies involve orthologs.1

1 Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

View Mammalian Phenotype Terms

Mammalian Phenotype Terms

      assigned by genotype

The following phenotype relates to a compound genotype created using this strain.
Contact JAX^® Services jaxservices@jax.org for customized breeding options.

Mecp2^tm1Bird/Y Tg(Nes-cre)1Kln/0

        involves: 129P2/OlaHsd * C57BL/6 * SJL   (conditional)

• life span-post-weaning/aging
• premature death (MGI Ref ID J:67910)
• behavior/neurological phenotype
• abnormal gait (MGI Ref ID J:67910)
  • develop a stiff, uncoordinated gait
• hypoactivity (MGI Ref ID J:67910)
• limb grasping (MGI Ref ID J:67910)
• craniofacial phenotype
• abnormal tooth morphology (MGI Ref ID J:67910)
  • frequently exhibit uneven wearing of the teeth
• endocrine/exocrine gland phenotype
• cryptorchism (MGI Ref ID J:67910)
• growth/size phenotype
• decreased body weight (MGI Ref ID J:67910)
• reproductive system phenotype
• cryptorchism (MGI Ref ID J:67910)

View Research Applications

Research Applications

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

Mouse/Human Gene Homologs
Rett syndrome

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

Research Tools
Cre-lox System (loxP-flanked Sequences)
Developmental Biology Research (Cre-lox System)

Mecp2^tm1Bird related

Neurobiology Research
Ataxia (Movement) Defects

Genes & Alleles

Gene & Allele Information

Allele Symbol		Mecp2tm1Bird
Allele Name		targeted mutation 1, Adrian Bird
Allele Type		Targeted (Floxed/Frt)
Common Name(s)		Mecp2lox;
Mutation Made By		Adrian Bird,   University of Edinburgh
Strain of Origin		129P2/OlaHsd
ES Cell Line Name		E14TG2a
ES Cell Line Strain		129P2/OlaHsd
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		Insertion of a neomycin resistance cassette into the gene introduced loxP sites that flank exons 3 and 4, and added an intron and polyadenylation signal from the human beta globin gene. From the mutated allele, Northern blot analysis detected the wild type mature transcript and also a transcript in which the beta globin intron was unspliced. [MGI Ref ID J:67910]

Genotyping

Genotyping Information

This strain will not have a genotyping protocol or one is not currently available.

Helpful Links

Optimizing PCR Protocols

References

References

Selected Reference(s)

Guy J; Hendrich B; Holmes M; Martin JE; Bird A. 2001. A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Nat Genet 27(3):322-6. [PubMed: 11242117]  [MGI Ref ID J:67910]

Additional References

Mecp2^tm1Bird related

Kerr B; Alvarez-Saavedra M; Saez MA; Saona A; Young JI. 2008. Defective body-weight regulation, motor control and abnormal social interactions in Mecp2 hypomorphic mice. Hum Mol Genet 17(12):1707-17. [PubMed: 18321865]  [MGI Ref ID J:135824]

Peddada S; Yasui DH; LaSalle JM. 2006. Inhibitors of differentiation (ID1, ID2, ID3 and ID4) genes are neuronal targets of MeCP2 that are elevated in Rett syndrome. Hum Mol Genet 15(12):2003-14. [PubMed: 16682435]  [MGI Ref ID J:112064]

Samaco RC; Fryer JD; Ren J; Fyffe S; Chao HT; Sun Y; Greer JJ; Zoghbi HY; Neul JL. 2008. A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome. Hum Mol Genet 17(12):1718-27. [PubMed: 18321864]  [MGI Ref ID J:135825]

Stettner GM; Huppke P; Brendel C; Richter DW; Gartner J; Dutschmann M. 2007. Breathing dysfunctions associated with impaired control of postinspiratory activity in Mecp2-/y knockout mice. J Physiol 579(Pt 3):863-76. [PubMed: 17204503]  [MGI Ref ID J:140841]

Health & husbandry

Health & Colony Maintenance Information

Colony Maintenance

Breeding & Husbandry	Mutant mice were bred to C57BL/6J mice to generate this congenic strain. When maintaining the live congenic colony, females homozygous for this X-linked mutation can be bred with males hemizygous for this X-linked mutation.
Diet Information	LabDiet® 5K52/5K67

Purchasing information

Pricing, Supply Level & Notes, Controls, General Terms & Conditions

 

This strain is currently Under Development for Distribution Colony.
To register your interest in this strain go to the Strain Interest Form.

Estimated Available for Sale Date: 08-DEC-08

Please note: Estimated available for sale dates are provided to keep customers better informed on strains under development. Please note that our Colony Managers routinely monitor the target date and edit it based on breeding performance and other factors. The length of time it takes to make a new strain available for sale depends on genotype, age, number of animals sent by the Donating Investigator, breeding performance, additional strain development (backcrossing, making homozygous), and anticipated demand for the strain/interest registered.

View All Strains Under Development and On Hold

Supply Details

Standard Supply	Under Development for Distribution Colony
Supply Notes	This strain is included in the Induced Mutant Resource Colony collection.

Control Information

	Control
	000664 C57BL/6J
Considerations for Choosing Controls
USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains.
International - Control Pricing Information for Genetically Engineered Mutant Strains.

General Terms and Conditions

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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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