Strain Detail Sheet

Strain Name:
STOCK Tet1tuft/Mmucd
Stock Number:
042205-UCD
Citation ID:
RRID:MMRRC_042205-UCD
Other Names:
3H1 Balb tuft, tuft

Strain Information

Gene Details

Tet1tuft
Name: tet methylcytosine dioxygenase 1; tuft
Synonyms: tu
Type: Allele
Species: Mus musculus (mouse)
Chromosome:
Alteration at locus: Spontaneous Mutation
Tet1
Name: tet methylcytosine dioxygenase 1
Synonyms: BB001228, 2510010B09Rik, Cxxc6, D10Ertd17e
Type: Gene
Species: Mouse
Chromosome: 10
Alteration at locus: Spontaneous Mutation
NCBI: 52463
Homologene: 12735
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
Point mutation creating an in-frame premature termination codon within the encoding catalytic domain of the TET1 enzyme (Fong et al., 2016).
Genotype Determination

Genotyping Protocol

Strain Description

Phenotype

Homozygous: Newborns present one or more gross defects with incomplete penetrance. About 30% of the litter are smaller in stature (runt) following a cross between mice that is homozygous and heterozygous (tuft/tuft x tuft/+) for the mutation. But some grow to normal weight following one month in age. They are otherwise viable. Mice can also present one or more gross craniofacial malformations such as midface cleft (nasal), anterior cranial cephalocele, ocular hypertelorism, sloping nasal ridge. The occurrence rate is about 20%. About a third die perinatally of unknown cause or from earlier defects to neural tube closure resulting in the occurrence of exencephaly/anencephaly and possibly during gastrulation/implantation. Milder forms present incomplete closure of the anterior neuropore, but their fate is unclear (PMID:24931720 and 26989192).

Hetero/Hemizygous: Mice heterozygous for the mutation appear normal. However, we have found a small percentage (about 5%) of mice with one of the typical traits for mice homozygous for the mutation to be heterozygous. Therefore, we believe the mutation can have a dominant negative effect. Neomorphic effects have not yet been ruled out. This is described in PMID:26989192.

Mammalian Phenotype Terms
Allelic Composition: (Genetic Background: )
MeSH Terms
  • Animals
  • Brain Neoplasms/complications
  • Brain Neoplasms/genetics
  • Brain Neoplasms/pathology
  • Congenital Abnormalities/genetics
  • Congenital Abnormalities/pathology
  • Corpus Callosum/pathology
  • Craniofacial Abnormalities/complications
  • Craniofacial Abnormalities/genetics
  • Craniofacial Abnormalities/pathology
  • Disease Models, Animal
  • Face/abnormalities
  • Face/pathology
  • Humans
  • Lipoma/complications
  • Lipoma/genetics
  • Lipoma/pathology
  • Magnetic Resonance Imaging
  • Mice
  • Mice, Inbred BALB C
  • Tomography, X-Ray Computed
  • Anencephaly/embryology
  • Bone Development/genetics
  • Craniofacial Abnormalities/embryology
  • Encephalocele/embryology
  • Facial Bones/abnormalities
  • Facial Bones/embryology
  • Fibroblast Growth Factor 8/genetics
  • Hedgehog Proteins/genetics
  • Neural Tube/embryology
  • Body Size
  • Cell Polarity
  • Codon, Nonsense/genetics
  • DNA-Binding Proteins/genetics
  • Ectoderm/metabolism
  • Embryo, Mammalian/metabolism
  • Gene Expression Regulation, Developmental
  • Homozygote
  • Models, Biological
  • Mutation/genetics
  • Neural Tube
  • Point Mutation
  • Proto-Oncogene Proteins/genetics
  • RNA/metabolism
  • Transcription Factors/metabolism
  • Wnt Signaling Pathway/genetics
Strain Development
The mutation arose spontaneously in a wild-type mouse colony of (C3H/HeH x 101/H)F1, abbreviated as "3H1" from here on, at the University of Hawaii Laboratory Animal Facility. The founder mouse presented an anterior cranial cephalocele as described. Thus named the trait "tuft". The 3H1 tuft founder mouse was crossed with 3H1 wildtype mice to give F1. All F1 mice appeared normal and presumed heterozygous. F1 were backcrossed to the affected founder male to give N1. Some resulted in affected animals (3H1 tuft). N1 mice were backcrossed and subsequently inbred to maintain the phenotypes described. The 3H1 tuft mouse was also crossed to BALB/c, giving 3H1 BALB tuft mice. Originally described in PMID:22246904.
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 mmrrc@ucdavis.edu. Older strains may not have this information.

Research Applications

  • Cancer
  • Cardiovascular
  • Cell Biology
  • Developmental Biology
  • Hematology
  • Neurobiology
  • Obesity
  • Reproduction
  • Research Tools

Strain Origin

Donor
Keith Fong, Ph.D., John A. Burns School of Medicine.
Primary Reference

Fong KS, Cooper TB, Drumhiller WC, Somponpun SJ, Yang S, Ernst T, Chang L,Lozanoff S. Craniofacial features resembling frontonasal dysplasia with atubulonodular interhemispheric lipoma in the adult 3H1 tuft mouse. Birth Defects Res A Clin Mol Teratol. 2012 Feb;94(2):102-13. doi: 10.1002/bdra.22878. Epub 2012Jan 13. (Medline PMID: 22246904)

Fong KS, Adachi DA, Chang SB, Lozanoff S. Midline craniofacial malformations with a lipomatous cephalocele are associated with insufficient closure of the neural tube in the tuft mouse. Birth Defects Res A Clin Mol Teratol. 2014 Aug;100(8):598-607. doi: 10.1002/bdra.23264. Epub 2014 Jun 13. (Medline PMID: 24931720)

Fong KS, Hufnagel RB, Khadka VS, Corley MJ, Maunakea AK, Fogelgren B, AhmedZM, Lozanoff S. A mutation in the tuft mouse disrupts TET1 activity and altersthe expression of genes that are crucial for neural tube closure. Dis Model Mech.2016 May 1;9(5):585-96. doi: 10.1242/dmm.024109. Epub 2016 Mar 17. (Medline PMID: 26989192)

Colony and Husbandry Information

Special Considerations

None appear to be required, though not tested.

Health Status Report

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.

Appearance

Coat Color
Dark brown

Breeding

MMRRC Breeding System
Random intra-strain mating
Generation
N3+ (BALB/c)
Note: only affected animals were backcrossed since there were no means to genotype at the time.
Overall Breeding Performance
Good

Reproductive Statistics

Viability and Fertility: Female Male Comments
Homozygotes are viable: Yes Yes
Homozygotes are fertile: Reduced Yes
Heterozygotes are fertile: Yes Yes
Age Reproductive Decline: 4 to 6 months 6 to 8 months
Bred to Homozygosity
No
Average litter size
5-9
Recommended wean age
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 mmrrc@ucdavis.edu 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.