Strain Detail Sheet

Strain Name:
C57BL/6J-Syt2m1Btlr/Mmmh
Stock Number:
038212--TBD-
Citation ID:
RRID:MMRRC_038212--TBD-
Other Names:
kringle
Major Collection:
Beutler Mutagenetix

Strain Information

Gene Details

Syt2m1Btlr
Name: synaptotagmin II; mutation 1, Bruce Beutler
Synonyms: kringle
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 1
Alteration at locus: Chemically Induced
Syt2
Name: synaptotagmin II
Type: Gene
Species: Mouse
Chromosome: 1
Alteration at locus: Chemically Induced
NCBI: 20980
Homologene: 22516
Genome Browser [Click image to go to Jbrowse]



Additional Resources
IMPC
Google
Entrez
PubMed
IMSR
Gene Ontology
BioGPS
Gene Cloud
IGTC
Mouse Phenome DB
Mouse Mine
KOMP Phenotyping
Monarch
GeneCards
ClinGen
Genetic Alterations
ENU-induced C to A transversion at base pair 134,747,620 (v38) on chromosome 1, or base pair 101,057 in the GenBank genomic region NC_000067 for the Syt2 gene. The mutation corresponds to residue 1,589 in the mRNA sequence NM_009307 within exon 10 of 10 total exons. The mutation results in an alanine (A) to aspartic acid (D) substitution at position 403 (A403D) in the synaptotagmin 2 (Syt2) protein.

Strain Description

Phenotype

Homozygous: Mice exhibited an ataxic, broad-based gait and an accompanying tremor.

Heterozygous: No abnormal phenotype detected.

Mammalian Phenotype Terms
Allelic Composition: (Genetic Background: )
Strain Development
Original mutant was a C57BL/6J G3 ENU-induced mutant; all subsequent crosses to maintain strain were on C57BL/6J background only.
Suggested Control Mice
Wild-type littermates or C57BL/6J mice

MMRRC Genetic QC

MMRRC Genetic QC Summary
The MMRRC Centers have developed a genetic QC pipeline using MiniMUGA array genotyping to provide additional information on strain backgrounds for MMRRC congenic and inbred strains. For more information on when data may be available, or to request genotyping for a strain of interest, please contact . Older strains may not have this information.

Research Applications

  • Neurobiology
  • Models for Human Disease
    • Autosomal dominant presynaptic congenital myasthenic syndrome 7 [CMS7; OMIM: #616040]

Strain Origin

Primary Reference

SoRelle J, Chen Z, Murray AR, Beutler B. Record for kringle. MUTAGENETIX, B. Beutler and colleagues, Center for the Genetics of Host Defense, UT Southwestern, Dallas, TX.

Colony and Husbandry Information

Health Status Report

For more information about this colony's health status contact

Appearance

Coat Color
Black

Reproductive Statistics

Viability and Fertility: Female Male Comments
Homozygotes are viable: Yes Yes
Homozygotes are fertile: Yes Yes
Heterozygotes are fertile: Yes Yes
Age Reproductive Decline: Unknown Unknown

Order Request Information

Availability Level

The availability level for this product has not been determined.

Conditions of Distribution

The donor or their institution limits the distribution to non-profit institutions only.

Distribution of this strain requires submission of the MMRRC Conditions of Use (COU). A link to the COU web form will be provided via email after an order has been placed; the form should be completed then or the email forwarded to your institutional official for completion.

Fees

- Products for this strain are Not Yet Available for Ordering
- If you register interest in this strain, you will be notified when it becomes available for ordering.
To request material from the MMRRC: Please fill out our on-line request form (accessible from the catalog search results page, or click the Request this Strain button in the fees section). If you have questions or need assistance completing this form, you may call Customer Service at (800) 910-2291 (in USA or Canada) or (530) 757-5710 (international calls). Before you call, please have with you: the MMRRC item number, quantity needed, Bill-to and Ship-to contact information.