Overview

These mutant mice contain an ENU-induced premature stop codon in exon 9 of the Sec24b gene and may be useful in studying planar cell polarity, neural tube closure and convergent expansion in the developing embryo.

Donating Investigator

David D. Ginty, Harvard Medical School

Genetic overview

Genetic Background	Generation

Sec24b^Y613X

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU)	Sec24b	Sec24 related gene family, member B (S. cerevisiae)

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Research Applications

Developmental Biology Research
Neurobiology Research
Research Tools

View All Research Applications

Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Detailed Description

Mice heterozygous for this ENU-induced mutation (Sec24b^Y613X), are viable and fertile, although the donating investigator reports that 33% of homozygous mice are dead or dying by E18.5. Sec24b is a cargo-sorting member of the core complex of the COPII endoplasmic reticulum (ER)-Golgi transport vesicle, and is critical for neural tube closure. These mice contain a premature stop codon in exon 9 of the Sec24 related gene family, member B (Sec24b) gene. Sec24b^Y613X homozygotes develop craniorachischisis, a fully open neural tube from the midbrain-hindbrain boundary to the most caudal end of the neural tube. These mice exhibit deficits in convergent extension and other planar cell polarity phenotypes. At E18.5, 45% of embryos exhibit omphalocele and 99% exhibit eyelid fusion failure. Also, outer and inner cochlear hair cells periodically fall out of phase and are abnormally aligned. These mutant mice may be useful in studying planar cell polarity, neural tube closure and convergent expansion in the developing embryo.

Development

Male C57BL/6 mice were treated with multidose N-ethyl-N-nitrosourea (ENU) and then bred to C3H/He females. The resulting male pups were then bred to C3H/He females to obtain second generation mice. The resulting female offspring were subsequently bred back to their parental line to obtain third generation mice. A mutagenesis screen was then performed to select mice with mutations effecting neural development. A family of mice, line 811, exhibiting craniorachischisis was identified. A forward-genetic screen approach found mutations in the Sec24 related gene family, member B (Sec24b) gene. Sequencing of this gene identified two transcripts each with a T to A transversion in exon 9 resulting in a premature stop codon (Y613X and Y579X). Craniorachischisis was confirmed in mice harboring the Y613X mutation. These mice were backcrossed to C3H/He mice (see SNP note below). Upon arrival at The Jackson Laboratory, mice were bred to C3H/HeJ (Stock No. 000659) for at least one generation to establish the colony.

A 32 SNP (single nucleotide polymorphism) panel analysis, with 27 markers covering all 19 chromosomes and the X chromosome, as well as 5 markers that distinguish between the C57BL/6J and C57BL/6N substrains, was performed on the rederived living colony at The Jackson Laboratory Repository. The 27 markers throughout the genome were found to be segregating. These data suggest the mice sent to The Jackson Laboratory Repository were on a mixed genetic background.

Control Suggestions

Wild-type from the colony

Approximate Controls

000659 C3H/HeJ

Additional Information

Considerations for Choosing Controls

Selected References

Merte J; Jensen D; Wright K; Sarsfield S; Wang Y; Schekman R; Ginty DD. 2010. Sec24b selectively sorts Vangl2 to regulate planar cell polarity during neural tube closure. Nat Cell Biol 12(1):41-6; sup pp 1-8PubMed: 19966784 MGI: J:158452

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Genetics

Sec24b^Y613X

Allele Symbol: Sec24b^Y613X

Allele Name	Tyr613Stop
Allele Type	Chemically induced (ENU)
Allele Synonym(s)	Sec24b⁸¹¹; Sec24b^Y613
Gene Symbol and Name	Sec24b, Sec24 related gene family, member B (S. cerevisiae)
Gene Synonym(s)
Strain of Origin	C57BL/6
Chromosome	3
Molecular Note	ENU mutagenesis induced a T to A transversion in exon 9 (1834T>A in ENSMUST00000098616). This mutation results in an amino acid substitution of a stop codon at position 613 in a Sec23/24-binding domain instead of tyrosine (Y613X).
Mutations Made By	David Ginty, Harvard Medical School

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

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

Developmental Biology Research
- Defects in Cell Adhesion Molecules
- Neural Tube Defects
- Embryonic Lethality (Homozygous)
Neurobiology Research
- Neural Tube Defects
Research Tools
- Genetics Research
  - Mutagenesis and Transgenesis: Production of Chemical Mutations

Mammalian Phenotype Terms by Genotype

The following phenotype information is associated with a similar, but not exact match to this JAX^® Mice strain

Genotype: Sec24b^Y613X/Sec24b^Y613X
involves: C3H/He * C57BL/6

embryo phenotype

abnormal embryo size
- at the 6-, 7-, 8-, and 10-somite stages, embryos are shorter and wider than wild-type mice

craniorachischisis

open neural tube

vision/eye phenotype

failure of eyelid fusion
- in 99% of mice at E18.5 compared with 2% of mice

growth/size/body region phenotype

abnormal embryo size
- at the 6-, 7-, 8-, and 10-somite stages, embryos are shorter and wider than wild-type mice

omphalocele
- in 45% of mice at E18.5 compared with 1% of mice

hearing/vestibular/ear phenotype

abnormal orientation of inner hair cell stereociliary bundles
- across entire organ of Corti but not in the vestibular system

abnormal orientation of outer hair cell stereociliary bundles
- across entire organ of Corti but not in the vestibular system

mortality/aging

lethality throughout fetal growth and development, complete penetrance
- mice die at E18.5

nervous system phenotype

abnormal orientation of inner hair cell stereociliary bundles
- across entire organ of Corti but not in the vestibular system

abnormal orientation of outer hair cell stereociliary bundles
- across entire organ of Corti but not in the vestibular system

craniorachischisis

open neural tube

References

Merte J; Jensen D; Wright K; Sarsfield S; Wang Y; Schekman R; Ginty DD. 2010. Sec24b selectively sorts Vangl2 to regulate planar cell polarity during neural tube closure. Nat Cell Biol 12(1):41-6; sup pp 1-8PubMed: 19966784 MGI: J:158452

Additional - Sec24b^Y613X related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting
Breeding Considerations

When maintaining a colony, heterozygous mice may be bred to wildtype mice from the colony or C3H/HeJ inbred mice (Stock No. 000659). The donating investigator reports that 33% of homozygous mice are dead or dying by embryonic day 18.5 (E18.5).
- Additional Breeding and Husbandry Support
Citation
When using the STOCK Sec24b^Y613X/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #014645 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

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

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
	Heterozygous or wildtype for Sec24b<Y613X>

Related Products and Services

Frozen Mouse Embryo	STOCK Sec24b<Y613X>/J	$2595.00
Frozen Mouse Embryo	STOCK Sec24b<Y613X>/J	$2595.00
Frozen Mouse Embryo	STOCK Sec24b<Y613X>/J	$3373.50
Frozen Mouse Embryo	STOCK Sec24b<Y613X>/J	$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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General Terms and Conditions

Questions about Terms of Use

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Donating Investigator

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Approximate Controls

Additional Information

Selected References

Sec24bY613X

Allele Symbol: Sec24bY613X

Disease Terms

Research Areas By Phenotype

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

Mammalian Phenotype Terms by Genotype

Genotype: Sec24bY613X/Sec24bY613Xinvolves: C3H/He * C57BL/6

embryo phenotype

vision/eye phenotype

growth/size/body region phenotype

hearing/vestibular/ear phenotype

mortality/aging

nervous system phenotype

References

Additional - Sec24bY613X related

Genotyping Protocols

Breeding Considerations

Citation

Animal Health Reports

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

Live Mouse

Cryorecovery - Pricing

Related Products and Services

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Additional Use Restrictions Apply

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Sec24b^Y613X

Allele Symbol: Sec24b^Y613X

Genotype: Sec24b^Y613X/Sec24b^Y613X
involves: C3H/He * C57BL/6

Additional - Sec24b^Y613X related