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Genes & Alleles

Stxbp1;   Stxbp1tm1Sud;

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Product Information

Strain Details

Type JAX® GEMM® Strain - Mutant Stock Additional information on JAX® GEMM® Strains. Type JAX® GEMM® Strain - Targeted Mutation Mating System +/+ sibling x Heterozygote         (Female x Male) Species laboratory mouse Donating Investigator Thomas Sudhof,   U. of Texas, SW Medical Center at Dallas Generation ?+N2 (06-DEC-07)

Strain Description
Mice homozygous for this targeted mutation die immediately after birth, probably due to respiratory failure. Predicted Mendelian genotypic ratios are demonstrated in progeny of heterozygous crosses. Homozygotes show a complete loss of neurotransmitter secretion from synaptic vesicles throughout development. Postsynaptic receptors are functional and spontaneous action potentials are occasionally observed, however. Ion channels show normal properties. Normal brain assembly, including formation of layered structures, fiber pathways and morphologically defined synapses occurs. After assembly is completed, neurons undergo apoptosis, leading to widespread neurodegeneration. No protein product from the targeted gene is detected in E18 embryos or perinatal pups. This mutant mouse strain represents a model that may be useful in studies of synaptic vesicle exocytosis and neurodegeneration.

Strain Development
A targeting vector containing a neomycin resistance gene was used to replace 5 exons encoding residues 14-29, 30-56, 57-82, 83-108, and 109-144 of the gene. The construct was electroporated into 129/Sv-derived “G-cells” (embryonic stem (ES) cells). Correctly targeted ES cells were injected into C57BL/6 blastocysts. Chimeric animals were crossed with C57BL/6. The strain has been minimally backcrossed to C57BL/6 by the donating laboratory.

Mammalian Phenotype Terms assigned by genotype The following phenotype information may relate to a genetic background differing from this JAX® Mice strain. Stxbp1tm1Sud/Stxbp1tm1Sud         Background Not Specified lethality-prenatal/perinatal neonatal lethality (MGI Ref ID J:77237) animals die at birth, probably due to an inability to breathe nervous system phenotype *normal* nervous system phenotype (MGI Ref ID J:77237) homozygous mice exhibited normal brain development and initial formation of synaptic connections abnormal synaptic transmission (MGI Ref ID J:77237) no synaptic activity was detectable in embryonic stages in homozygous mice; however, postsynaptic receptors were functional and spontaneous action potentials were observed abnormal neurotransmitter secretion (MGI Ref ID J:77237) complete loss of neurotransmitter secretion from synaptic vesicles during development neurodegeneration (MGI Ref ID J:77237) apoptotic death of mature neurons was noted starting in the lower brainstem and later in the midbrain and basal forebrain axon degeneration (MGI Ref ID J:85723) degeneration of the phrenic nerve was noted in homozygous mice; the phrenic nerve initially innervated the diaphragm and the neuromuscular synapse formed normally at E14 -E15, but then degenerated and disappeared by E18

Gene & Allele Details

Allele Symbol		Stxbp1tm1Sud
Allele Name		targeted mutation 1, Thomas C Sudhoff
Common Name(s)		munc18-1-;
Mutation Made By		Thomas Sudhof,   U. of Texas, SW Medical Center at Dallas
ES Cell Line Name		Other (see notes)
Gene Symbol and Name		Stxbp1, syntaxin binding protein 1
Chromosome		2
Gene Common Name(s)		AI317162; AI326233; ANC18HA; MUNC18-1; Munc-18a; N-sec1; NSEC1A; Rb-sec1; Sec1; Sxtbp1; UNC18; Unc18h; expressed sequence AI317162; expressed sequence AI326233; hUNC18; nsec1; rbSec1; rbSec1A; rbSec1B; unc18 homolog (C. elegans);
General Note		The targeting vector was electroporated into "G-cell" ES cells.
Molecular Note		Five exons, encoding amino acids 14 through 144, were replaced with a neomycin selection cassette. Neither transcript nor protein was detected in homozygous mice by Northern blot or Western blot analyses. [MGI Ref ID J:77237]

Control Information

	Control
	Wild-type from the colony	(approximate)
	101045 B6129SF2/J	(approximate)
Considerations for Choosing Controls

Colony Maintenance

Breeding & Husbandry	When maintained as a live colony heterozygotes are bred with wildtype siblings. Homozygotes are not viable.
Diet Information	LabDiet® 5K52/5K67

Animal Health Reports

Room Number           AX11

Research Applications

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

Neurobiology Research
Neurotransmitter Receptor and Synaptic Vesicle Defects

References

Selected Reference(s)

Verhage M; Maia AS; Plomp JJ; Brussaard AB; Heeroma JH; Vermeer H; Toonen RF; Hammer RE; van den Berg TK; Missler M; Geuze HJ; Sudhof TC. 2000. Synaptic assembly of the brain in the absence of neurotransmitter secretion. Science 287(5454):864-9. [PubMed: 10657302]  [MGI Ref ID J:77237]

Additional References

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Price and Supply Information

Strain Name:	B6;129S-Stxbp1tm1Sud/J
Stock Number:	006381

Price Details

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Supply Details

Standard Supply	Repository-Live. A collection of over 1000 strains maintained as live colonies. Individual colonies are sized to meet current customer demand. Delivery for orders of 10 mice or less ranges on average from one to eight weeks; mice are generally shipped between four to six weeks of age with a maximum shipping age of ~nine weeks. Colony sizes do not generally support stringent age specifications for large volumes of mice; however custom orders and larger quantities of mice are easily arranged. Estimated ship dates for all orders provided within 48 hours of order placement.
Supply Notes	Usually shipped between four and eight weeks of age. This strain is included in the Induced Mutant Resource Colony collection.
Licensing	See General Terms and Conditions below for Licensing and Use Restrictions
Control Information	View Control Information in Strain Details.

General Terms and Conditions

View JAX^® Mice & Services Conditions of Use.

For additional Licensing and Use Restrictions view the link(s) below:
- Use of MICE by companies or for-profit entities requires a license prior to shipping.

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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