Strain Name:
129S6(B6)-Sptbm1Jus/MdfMmjax
Stock Number:
032645-JAX
Citation ID:
RRID:MMRRC_032645-JAX

Strain Information

Sptbm1Jus
Name: spectrin beta, erythrocytic; mutation 1, Monica J Justice
Synonyms: hem11
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 12
Alteration at locus: Spontaneous Mutation
Sptb
Name: spectrin beta, erythrocytic
Synonyms: Spnb-1, spectrin R, D330027P03Rik, LOC383567, brain erythroid spectrin (235E), Spnb1
Type: Gene
Species: Mouse
Chromosome: 12
Alteration at locus: Spontaneous Mutation
NCBI: 20741
Homologene: 295
Genetic Alterations
Deletion/splice rearrangement of exons 20-23 in spnb1. Three primer cocktail where a forward primer is anchored in undeleted portion of intron 19/20, a reverse primer anchored in exon 23, and an additional forward primer is anchored in the deleted portion of exon 23. Intron 19/20F and exon 23R spans a 3.7 kb genomic region, but amplifies a 511 bp fragment.
Genotype Determination
Phenotype
Homozygous: Mice that are homozygous for the mutation on a mixed C57BL/6 and 129S6/SvEvTac background are severely anemic, exhibit hemolysis, enlarged spleens, hearts, livers and kidneys; and have irregular RBC morphology with abnormal numbers of spherocytes and acanthocytes. These mice have similar characteristics to human patients with mutations in spectrin beta 1. This mutant mouse strain may be useful in hematological research.

Heterozygous: Normal
Mammalian Phenotype Terms
Allelic Composition: Sptbm1Jus/Sptbm1Jus (Genetic Background: involves: 129S6/SvEvTac * C57BL/6 )

Strain Development
This mutation arose spontaneously in a C57BL/6x129S6/SvEvTac F2 mapping panel in the laboratory of Dr. Monica Justice at Baylor College of Medicine. The affected mouse was backcrossed to 129S6/SvEvTac and then transferred to Dr. Mark Fleming at Children's Hospital Boston who continued the backcross for 7 generations. The mutation was mapped in a CASTX129S6 cross and determined to be a deletion/rearrangement in exons 20-23 of the Spnb1 gene. PCR primers used to identify the mutation span a 3.7 kb genomic region, but amplify a 511 bp fragment. Dr. Fleming donated the strain to The Jackson Laboratory in 2010. Upon arrival, mice were bred to 129S6 for at least 1 generation to establish the colony.
Suggested Control Mice
Wild-type littermates
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 csmmrrc@jax.org. Older strains may not have this information.
  • Hematology
  • Models for Human Disease
Donor
Mark Fleming MD, DPhil., Boston Children's Hospital 

Colony and Husbandry Information

While maintaining a live colony, these mice are bred as heterozygotes.

Cryo-recovered strains distributed by the MMRRC at JAX are shipped to the customer from the Pathogen & Opportunistic-Free Animal Room G200 - see https://www.jax.org/jax-mice-and-services/customer-support/customer-service/animal-health/health-status-reports.

Mice recovered from a cryo-archive will have health surveillance performed on recipient females. Health reports will be provided prior to shipment. If you require additional health status information, please email csmmrrc@jax.org.

Order Request Information

Limited quantities of breeder mice (recovered litter) are available from a cryoarchive; recovered litter usually available to ship in 3 to 4 months.

Cryopreserved material may be available upon request, please inquire to csmmrrc@jax.org for more information.

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.

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

Additional charges may apply for any special requests. Shipping costs are in addition to the basic distribution/resuscitation fees. Information on shipping costs and any additional charges will be provided by the supplying MMRRC facility.

Click button to Request this one strain. (Use the MMRRC Catalog Search to request more than one strain.)
MMRRC Item # Description Distribution Fee / Unit (US $)
*Shipping & Handling not included*
Units Notes
032645-JAX-SPERM Cryo-preserved spermatozoa $437.00 / Non-Profit Aliquot Approximate quantity3
032645-JAX-RESUS Litter recovered from cryo-archive $2,022.00 / Non-Profit Litter Recovered litter4; additional fees for any special requests.
Cryopreserved material may be available upon request, please inquire to csmmrrc@jax.org for more information.

1 The distribution fee covers the expense of rederiving mice from a live mouse; you will receive the resulting litter. The litter will contain at minimum one mutant carrier; the actual number of animals and the gender and genotype ratios will vary. (Typically, multiple breeder pairs can be established from the recovered litter.) Prior to shipment, the MMRRC will provide information about the animals recovered. If you anticipate or find that you need to request specific genotypes, genders or quantities of mice in excess of what is likely from a resuscitated litter, you may discuss available options and pricing with the supplying MMRRC facility.

2 An aliquot contains a sufficient number of embryos (in one or more vials or straws and based on the transfer success rate of the MMRRC facility) to transfer into one to three recipients. The MMRRC makes no guarantee concerning embryo transfer success experienced in the recipient investigator's laboratory. Neither gender nor genotype ratios are guaranteed.

3 An aliquot is one straw or vial with sufficient sperm to recover at least one litter of mice, as per provided protocols, when performed at the MMRRC facility. The MMRRC makes no guarantee concerning the success of these procedures when performed outside the MMRRC facilities.

4 The distribution fee covers the expense of resuscitating mice from the cryo-archive; you will receive the resulting litter. The litter will contain at minimum one mutant carrier; the actual number of animals and the gender and genotype ratios will vary. (Typically, multiple breeder pairs can be established from the recovered litter.) Prior to shipment, the MMRRC will provide information about the animals recovered. If you anticipate or find that you need to request specific genotypes, genders or quantities of mice in excess of what is likely from a resuscitated litter, you may discuss available options and pricing with the supplying MMRRC facility.

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.