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 Congenic; Mutant Strain; Targeted Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Species laboratory mouse Background Strain C57BL/6 Donor Strain 129S1 via CJ7 ES cell line Generation N10 Generation Definitions   Donating Investigator Dr. Barbara Wold,   California Institute of Technology

Description
Homozygotes have major defects in both pattern and myotomal formation.

Development
This strain was developed in the lab of Dr. Barbara Wold at the California Institute of Technology. Coding sequence of the myogenic factor 6 (Myf6) gene was replaced with a neomycin resistance cassette. This construct was electroporated into 129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺-derived CJ7 embryonic Stem cells (ES cells). Correctly targeted ES cells was injected into blastocysts, and the resulting mice were bred to C57BL/6J inbred mice (Stock No. 000664).

Control Information

	Control
	Wild-type from the colony
	000664 C57BL/6J
Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Myf6

010528

B6;129-Myf6tm2(cre)Mrc/J

View Strains carrying other alleles of Myf6     (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. Myopathy, Centronuclear, 3; CNM3   (MYF6)

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.

Myf6^tm1Wb/Myf6^tm1Wb

        involves: 129S1/Sv * C57BL/6

• mortality/aging
• complete neonatal lethality
  • die shortly after birth   (MGI Ref ID J:29279)
• respiratory system phenotype
• respiratory distress
  • unable to breathe   (MGI Ref ID J:29279)
• skeleton phenotype
• abnormal cervical vertebrae morphology
  • the tuberculum anterior is absent on the 6th cervical vertebrae of most mice   (MGI Ref ID J:29279)
• abnormal rib morphology
  • rib development is severely disturbed in newborns   (MGI Ref ID J:29279)
  • some ribs display abnormal angles of extension   (MGI Ref ID J:29279)
• • abnormal rib-sternum attachment
    • rib foreshortening leads to variable failure to join the sternum   (MGI Ref ID J:29279)
  • rib bifurcation   (MGI Ref ID J:29279)
  • rib fusion
    • fusion of rib cartilage from adjacent ribs   (MGI Ref ID J:29279)
  • short ribs
    • rib foreshortening in ribs 2-12 is usually less than 20% of total length and leads to variable failure to join the sternum   (MGI Ref ID J:29279)
    • the first and last ribs are more dramatically shortened compared to others   (MGI Ref ID J:29279)
  • truncated ribs
    • truncated ribs that fail to attach to the sternum   (MGI Ref ID J:29279)
• abnormal sternum ossification
  • disorganized ossification in the sternum   (MGI Ref ID J:29279)
• muscle phenotype
• abnormal intercostal muscle morphology
  • some intercostals muscles associated with ribs 3Ñ5 are either disorganized or significantly reduced in fiber number at E18.5 and in newborns   (MGI Ref ID J:29279)
• abnormal myotome development
  • although earliest myotome formation is unaffected, mutants exhibit a deficit in myotome development beginning around E9 and ending around E11   (MGI Ref ID J:29279)
• abnormal myotome morphology
  • myotomes are greatly reduced in size and cell number at E11   (MGI Ref ID J:29279)

View Research Applications

Research Applications

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

Myf6^tm1Wb related

Developmental Biology Research
Mesodermal Defects
      Myogenesis Defects

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		Myf6tm1Wb
Allele Name		targeted mutation 1, Barbara Wold
Allele Type		Targeted (knock-out)
Common Name(s)		MRF4bh1;
Mutation Made By		Dr. Barbara Wold,   California Institute of Technology
Strain of Origin		129S1/Sv-Oca2<+> Tyr<+> Kitl<+>
ES Cell Line Name		CJ7
ES Cell Line Strain		129S1/Sv-Oca2<+> Tyr<+> Kitl<+>
Gene Symbol and Name		Myf6, myogenic factor 6
Chromosome		10
Gene Common Name(s)		CNM3; MRF4; MRF4AA; bHLHc4; herculin; myf-6;
General Note		Studies have shown that Myf6 may regulate Myf5 expression by a cis-acting mechanism and that the skeletal abnormalities seen in Myf6 homozygotes may result from a decrease or lack of Myf5 expression (J:29279, J:42453). This allele (Myf6tm1Wb) exhibits normal Myf5 expression at E8 but by E10, expression is reduced (J:29279).
Molecular Note		Replacement of DNA sequences encoding codons 40-173 with a neomycin cassette. This mutation eliminates the helix-loop-helix domain of the protein. Expression of Myf5 is seen at E8, however by E10, it is lower and remains lower. [MGI Ref ID J:29279]

Genotyping

Genotyping Information

Genotyping Protocols

Myf6^tm1Wb, Separated PCR

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Patapoutian A; Yoon JK; Miner JH; Wang S; Stark K; Wold B. 1995. Disruption of the mouse MRF4 gene identifies multiple waves of myogenesis in the myotome. Development 121(10):3347-58. [PubMed: 7588068]  [MGI Ref ID J:29279]

Additional References

Olson EN; Arnold HH; Rigby PW; Wold BJ. 1996. Know your neighbors: three phenotypes in null mutants of the myogenic bHLH gene MRF4. Cell 85(1):1-4. [PubMed: 8620528]  [MGI Ref ID J:32441]

Myf6^tm1Wb related

Olson EN; Arnold HH; Rigby PW; Wold BJ. 1996. Know your neighbors: three phenotypes in null mutants of the myogenic bHLH gene MRF4. Cell 85(1):1-4. [PubMed: 8620528]  [MGI Ref ID J:32441]

Yoon JK; Olson EN; Arnold HH; Wold BJ. 1997. Different MRF4 knockout alleles differentially disrupt Myf-5 expression: cis-regulatory interactions at the MRF4/Myf-5 locus. Dev Biol 188(2):349-62. [PubMed: 9268580]  [MGI Ref ID J:42453]

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	The strain is maintained by mating heterozygotes and normal wild type siblings. 5/27/97 keb: We are outcrossing to B6 each generation since homozygous mice are lethal at birth.

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls

General Supply Notes

• Genomic DNA is available for this strain from the Mouse DNA Resource.

Control Information

	Control
	Wild-type from the colony
	000664 C57BL/6J
Considerations for Choosing Controls
Control Pricing Information for Genetically Engineered Mutant Strains.

Payment Terms and Conditions

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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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