Strain Detail Sheet

Strain Name:
STOCK Tbx1tm1Pa/Mmjax
Stock Number:
043609-JAX
Citation ID:
RRID:MMRRC_043609-JAX
Other Names:
Tbx1tm1Pa, Tbx1 null, 129.Cg-Tbx1tm1Pa/Mmjax

Strain Information

Gene Details

Tbx1tm1Pa
Name: T-box 1; targeted mutation 1, Virginia Papaioannou
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 16
Alteration at locus: Knockout
Tbx1
Name: T-box 1
Synonyms: nmf219
Type: Gene
Species: Mouse
Chromosome: 16
Alteration at locus: Knockout
NCBI: 21380
VEGA: 16
Homologene: 7966
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
Replacement of the entire coding region apart from the first 20 amino acids with a loxP-flanked PGK neomycin-resistance cassette.
Genotype Determination
ES Cell Line
R1 derived from (129X1/SvJ x 129S1/Sv)F1-Kitl+

Strain Description

Phenotype

Homozygous: Lethal at birth with cardiac outflow tract abnormalities including persistent truncus arteriosus, hypoplasia of thymus and parathyroid glands, abnormal facial structures, low set or missing external ears, abnormal inner ears, abnormal vertebrae, mandible, and cleft palate,

Hetero/Hemizygous: Heterozygotes have a high incidence of cardiac outflow tract anomalies.

Mammalian Phenotype Terms
Allelic Composition: (Genetic Background: )
MeSH Terms
  • Animals
  • Aorta, Thoracic/abnormalities
  • Base Sequence
  • Branchial Region/abnormalities
  • Coronary Vessel Anomalies/genetics
  • Coronary Vessel Anomalies/pathology
  • DNA Primers/genetics
  • DiGeorge Syndrome/genetics
  • DiGeorge Syndrome/pathology
  • Disease Models, Animal
  • Female
  • Heterozygote
  • Humans
  • Male
  • Mice
  • Mice, Knockout
  • Mice, Mutant Strains
  • Mutation
  • Phenotype
  • T-Box Domain Proteins/genetics
Strain Development
This line was produced by homologous recombination in the R1 ES cell line (derived from (129X1/SvJ x 129S1/Sv)F1-Kitl+). Targeted cells were injected into C57BL/6 embryos to produce chimeras, which were mated to 129S6/SvEvTac. The offspring carrying the allele were inbred for 10+ years
Suggested Control Mice
Wild-type littermates

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 csmmrrc@jax.org. Older strains may not have this information.

Research Applications

  • Cardiovascular
  • Developmental Biology
  • Endocrine Deficiency
  • Internal_Organ
  • Models for Human Disease

Strain Origin

Donor
Virginia Papaioannou, Ph.D., Columbia University Medical Center.
Primary Reference

Jerome LA, Papaioannou VE. DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nat Genet. 2001 Mar;27(3):286-91. doi: 10.1038/85845. (Medline PMID: 11242110)

Colony and Husbandry Information

Health Status Report

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.

Appearance

Coat Color
Agouti chinchilla
Eye
Black

Breeding

MMRRC Breeding System
Random intra-strain mating
Generation
Unknown (10+ yrs of inbreeding)
Overall Breeding Performance
Good

Reproductive Statistics

Viability and Fertility: Female Male Comments
Homozygotes are viable: No No
Homozygotes are fertile: No No
Heterozygotes are fertile: Yes Yes
Age Reproductive Decline: 8 to 12 months Greater than 12 months
Bred to Homozygosity
Yes
Average litter size
4-6
Recommended wean age
3-4 weeks
Average Pups Weaned
4-6

Order Request Information

Availability Level

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.

Conditions of Distribution

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.

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.