Strain Name:
SW.FVB-Tg(GNB1L,TBX1,GP1BB,SEPT5)23Bem/Mmucd
Stock Number:
036810-UCD
Citation ID:
RRID:MMRRC_036810-UCD
Other Names:
BAC316.23, BAC transgenic overexpressor of Tbx1

Strain Information

Gnb1l
Name: guanine nucleotide binding protein (G protein), beta polypeptide 1-like
Synonyms: ESTM55, Wdvcf, Wdr14, Me49f07
Type: Gene
Species: Mouse
Chromosome: 16
NCBI: 13972
HGNC: HGNC:4397
Homologene: 41515
TBX1
Name: T-box 1 [ Homo sapiens ]
Type: Gene
Species: Homo sapiens (human)
Chromosome: 22
Gp1bb
Name: glycoprotein Ib, beta polypeptide
Type: Gene
Species: Mouse
Chromosome: 16
NCBI: 14724
VEGA: 16
HGNC: HGNC:4440
Homologene: 30972
Septin5
Name: septin 5
Synonyms: Sept5, Pnutl1, Cdcrel1
Type: Gene
Species: Mouse
Chromosome: 16
NCBI: 18951
VEGA: 16
HGNC: HGNC:9164
Homologene: 74446
Tg(GNB1L,TBX1,GP1BB,SEPT5)23Bem
Name: transgene insertion 23, Bernice Morrow
Synonyms: Tg316, BAC316.23, 316.23, TBX1-BAC, Tg(GNB1L,TBX1,GP1BB,SEPT5)23Rak
Type: Transgene
Species: Mus musculus (mouse)
Chromosome: unknown
Alteration at locus: Transgenic (random, gene disruption)
Genetic Alterations
This is a BAC transgene where the inserted human BAC is from the RPCI11 library and contains four genes, GNB1l, TBX1, GP1BB, and SEPT5.
Genotype Determination

Phenotype

Homozygous: Not assessed.

Hemizygous: Hemizygous mice have a circling phenotype due to inner ear malformations. A small percentage of transgenics do not survive on an FVB/N background due to aortic arch artery and cardiac anomalies.

MeSH Terms
  • Animals
  • Cardiovascular Abnormalities/genetics
  • Chromosomes, Human, Pair 22
  • DiGeorge Syndrome/etiology
  • DiGeorge Syndrome/genetics
  • Flow Cytometry
  • Gene Library
  • Gene Targeting
  • Genotype
  • Humans
  • Mice
  • Mice, Transgenic
  • Microscopy, Fluorescence
  • Models, Genetic
  • Mutation
  • Parathyroid Glands/abnormalities
  • Phenotype
  • T-Box Domain Proteins/biosynthesis
  • T-Box Domain Proteins/genetics
  • T-Box Domain Proteins/physiology
  • Thymus Gland/abnormalities
  • Time Factors
  • Abnormalities, Multiple/genetics
  • Abnormalities, Multiple/pathology
  • Behavior, Animal/physiology
  • Cell Cycle Proteins
  • Chromosome Deletion
  • Chromosomes, Human, Pair 22/genetics
  • DiGeorge Syndrome/pathology
  • Ear Diseases/genetics
  • Ear Diseases/pathology
  • Ear, Inner/pathology
  • Ear, Middle/pathology
  • Embryo, Mammalian/metabolism
  • Female
  • Gene Expression Regulation
  • Hearing Loss, Sensorineural/genetics
  • Hearing Loss, Sensorineural/pathology
  • In Situ Hybridization
  • Intracellular Signaling Peptides and Proteins
  • Male
  • Nerve Tissue Proteins/genetics
  • Platelet Glycoprotein GPIb-IX Complex/genetics
  • Proteins/genetics
  • Septins
  • Transgenes/genetics
  • Transgenes/physiology
  • Embryonic Development/physiology
  • Gene Expression Regulation, Developmental
  • Heart/embryology
  • Oligonucleotide Array Sequence Analysis
  • Pharynx/embryology
  • Promoter Regions, Genetic
  • RNA/genetics
  • RNA/isolation & purification
  • Reproducibility of Results
  • Reverse Transcriptase Polymerase Chain Reaction
Strain Development
BAC DNA containing 4 human genes (GNB1l, TBX1, GP1BB, and SEPT5) was injected into the pronucleus of fertilzed FVB/N zygotes. The transgenic founders were mated with FVB/N and Tac:SW (Swiss Webster from Taconic). These mice have a phenotype as a result of TBX1 overexpression due to insertion up 8-10 copies of the transgene. The phenotype was more severe on an FVB background, therefore the mice were crossed to Tac:SW outbred background for more than 10 generations.
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 mmrrc@ucdavis.edu. Older strains may not have this information.
  • Cardiovascular
  • Developmental Biology
  • Immunology and Inflammation
  • Models for Human Disease
    • 22q11 duplication syndrome, 22q11 deletion syndrome, DiGeorge Syndrome
  • Sensorineural
Donor
Bernice Morrow, Ph.D., Albert Einstein College of Medicine.
Primary Reference

Merscher S, Funke B, Epstein JA, Heyer J, Puech A, Lu MM, et al. TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. Cell. 2001 Feb 23;104(4):619-29. (Medline PMID: 11239417)

Funke B, Epstein JA, Kochilas LK, Lu MM, Pandita RK, Liao J, et al. Mice overexpressing genes from the 22q11 region deleted in velo-cardio-facial syndrome/DiGeorge syndrome have middle and inner ear defects. Hum Mol Genet. 2001 Oct 15;10(22):2549-56. (Medline PMID: 11709542)

Liao J, Aggarwal VS, Nowotschin S, Bondarev A, Lipner S, Morrow BE. Identification of downstream genetic pathways of Tbx1 in the second heart field. Dev Biol. 2008 Apr 15;316(2):524-37. Epub 2008 Feb 13. (Medline PMID: 18328475)

Colony and Husbandry Information

Comments by donor: Transgenics survive well on a Swiss Webster background and successfully mate. Females are poor mothers, so the colony is maintained by crossing transgenic males to wild-type (SW) females. Males are then kept separate from other mice when not mating due to aggression and hyperactivity.

Colony Surveillance Program and Current Health 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 mmrrc@ucdavis.edu.
Coat Color
White
MMRRC Breeding System

Outcross to non-inbred (hybrid or outbred) mating

Breeding Scheme(s)

Swiss Webster female x Hemizygous male

Generation
N10+
Overall Breeding Performance
Good
NOTE: "Hemizygote" as used here refers to males carrying a mutation on the X Chromosome or mice of either sex carrying an inserted transgene with no homologous allele on the other chromosome.
Viability and Fertility: Female Male Comments
Homozygotes are viable: Unknown Unknown
Homozygotes are fertile: Unknown Unknown
Hetero/Hemizygotes are fertile: Yes Yes Transgenic females are not well-suited as mothers due to hyperactivity.
Age Reproductive Decline: Undetermined 8 months
Average litter size
5-9
Recommended wean age
3-4 weeks

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 mmrrc@ucdavis.edu 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
036810-UCD-EMBRYO Cryo-preserved embryos $1,038.00 / Non-Profit Aliquot Approximate quantity2 : 20-40 embryos / aliquot
036810-UCD-SPERM Cryo-preserved spermatozoa $546.25 / Non-Profit Aliquot Approximate quantity3
036810-UCD-RESUS Litter recovered from cryo-archive $4,044.00 / Non-Profit Litter Recovered litter4; additional fees for any special requests.

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.