Description

Strain Information

Former Names C3.B6-Sema3am808Ddg/J    (Changed: 28-JUN-12 ) Type Chemically Induced Mutation; Congenic; Mutant Stock; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Mating System Homozygote x Homozygote         (Female x Male)   19-NOV-12 Species laboratory mouse Generation N8pN1+ (29-MAY-12) Generation Definitions   Donating Investigator David D. Ginty,   Johns Hopkins University

Description
Mice homozygous for this ENU-induced mutation (Sema3a^m808Ddg), are viable and fertile. These mice contain a loss-of-function mutation in exon 3 of the Sema3a (sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A) gene. Sema3a encodes a secreted protein that interacts with neuropilin-2 and plays a critical role in normal neuronal pattern development of the peripheral nervous system. These Sema3a^K108N homozygotes exhibit defasciculation and overgrowth of peripheral axonal projections of the spinal nerves and of axons within the ophthalmic branch of the trigeminal ganglia. Sensory and motor projections comprising the ulnar and radial nerves also extend beyond their targets and travel in bundles that are disorganized and defasciculated. These mutant mice may be useful in studying proper patterning connectivity and guidance of neurons of the peripheral nervous system.

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 peripheral nervous system patterning. A forward-genetic screen approach found a mutation in the sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (Sema3a) gene. Sequencing of this gene identified founder line 808 with an A to T transversion in exon 3 resulting in a lysine to asparagine loss-of-function mutation (K108N). The donating investigator reported that these mice were backcrossed to C3H/He mice for at least eight generations (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. 13 of the 27 markers throughout the genome were segregating between C3H/HeJ and B6J, suggesting an incomplete backcross.

Control Information

	Control
	000659 C3H/HeJ	(approximate)
Considerations for Choosing Controls

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. Hypogonadotropic Hypogonadism 16 with or without Anosmia; HH16   (SEMA3A)

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.

Sema3a^m808Ddg/Sema3a^m808Ddg

        involves: C3H/He * C57BL/6

• nervous system phenotype
• abnormal axon fasiculation
  • mice exhibit the same phenotype observed in either single homozygotes   (MGI Ref ID J:159834)
• abnormal ophthalmic nerve morphology
  • mice exhibit the same phenotype observed in either single homozygotes   (MGI Ref ID J:159834)
• cellular phenotype
• abnormal axon fasiculation
  • mice exhibit the same phenotype observed in either single homozygotes   (MGI Ref ID J:159834)

View Research Applications

Research Applications

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

Developmental Biology Research
Neurodevelopmental Defects

Research Tools
Neurobiology Research

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		Sema3am808Ddg
Allele Name		mutation 808, David D Ginty
Allele Type		Chemically induced (ENU)
Common Name(s)		Sema3AK108N;
Mutation Made By		David Ginty,   Johns Hopkins University
Strain of Origin		C57BL/6
Gene Symbol and Name		Sema3a, sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
Chromosome		5
Gene Common Name(s)		COLL1; Hsema-I; Hsema-III; SEMA1; SEMAD; SEMAIII; SEMAL; SemD; Semad; coll-1; collapsin-1; sema III; semaphorin D; semaphorin III;
Molecular Note		ENU mutagenesis induced an A to T transversion at position that results in the amino acid substitution of asparagine for lysine at position 108 (K108N). The protein product is predicted to poorly interact with the Npn-1/PlexA holoreceptor. [MGI Ref ID J:159834]

Genotyping

Genotyping Information

Genotyping Protocols

Sema3a^m808Ddg, Pyrosequencing

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Merte J; Wang Q; Vander Kooi CW; Sarsfield S; Leahy DJ; Kolodkin AL; Ginty DD. 2010. A forward genetic screen in mice identifies Sema3A(K108N), which binds to neuropilin-1 but cannot signal. J Neurosci 30(16):5767-75. [PubMed: 20410128]  [MGI Ref ID J:159834]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Room Number           AX18

Colony Maintenance

Breeding & Husbandry	When maintaining a live colony, homozygous mice may be bred together.
Mating System	Homozygote x Homozygote         (Female x Male)   19-NOV-12
Diet Information	LabDiet® 5K52/5K67

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls

Control Information

	Control
	000659 C3H/HeJ	(approximate)
Considerations for Choosing Controls
Control Pricing Information for Genetically Engineered Mutant Strains.

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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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