Strain Name:
129S1.B6J-Tuba1am1Nisw/Mmucd
Stock Number:
068489-UCD
Citation ID:
RRID:MMRRC_068489-UCD
Other Names:
Tuba1a N102D

Strain Information

Tuba1am1Nisw
Name: tubulin, alpha 1A; mutation 1, Lee Niswander
Synonyms: Tuba1aND
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 15
Alteration at locus: Chemically Induced
Tuba1a
Name: tubulin, alpha 1A
Synonyms: Tuba1, Talpha1 alpha-tubulin, Tuba-1
Type: Gene
Species: Mouse
Chromosome: 15
Alteration at locus: Chemically Induced
NCBI: 22142
Homologene: 68498
Genetic Alterations

The molecular lesion results in a single-base substitution (A to G, NM_011653.2:c.304A>G) that predicts an N102D non-synonymous amino acid exchange (p.Asn102Asp or N102D).

HVGS Nomenclature
  • Genbank RefSeq - mRNA: NM_011653.2
  • Genbank RefSeq, protein: NP_035783.1
  • Variant, nucleic acid level: c.304A>G
  • Variant, amino acid level, predicted: p.Asn102Asp
  • Check this variant: LUMC Mutalyzer
ES Cell Line
Not applicable
Phenotype
Tuba1aN102D/N102D (homozygous) mice die at birth with severe brain malformations including defective cortical layering and smaller brain size. Homozygous mice fail to innervate the peripheral nervous system appropriately, and thus die at birth from failure to breathe. Tuba1aN102D/+ (heterozygous) mice have reduced viability, and have adult-onset ataxia. In addition, midline commissures fail to form in Tuba1aN102D/+ mice. Survival of heterozygous animals is improved with MgSO4 supplementation in the water.
Strain Development
ENU mutagenesis on C57BL/6J males followed by outcrossing onto 129S1/SvlmJ background. Generation 3 (G3) embryos at embryonic day 18.5 were screened for recessive mutations that affect embryonic locomotion. Meiotic mapping followed linkage between the non-motile phenotype and C57BL/6J markers, which highlighted the proximal third of chromosome 15, more specifically a 2-MB region with candidate gene Tuba1a, which showed a homozygous, single-base substitution (A-to-G) predicting an N102D non-synonymous amino acid exchange (181 reads). Whole-exome sequencing and, specifically, close analysis of nearby paralogs Tuba1b and Tuba1c produced no further homozygous variants in exon sequences. Embryos were genotyped via PCR. The strain was backcrossed >12 generations onto 129S1/SvlmJ background.
Suggested Control Mice
129S1/SvImJ
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.
  • Developmental Biology
  • Neurobiology
Donor
Lee Niswander, Ph.D., University of Colorado Boulder.
Primary Reference

Gartz Hanson M, Aiken J, Sietsema DV, Sept D, Bates EA, Niswander L, Moore JK. Novel α-tubulin mutation disrupts neural development and tubulin proteostasis. Dev Biol. 2016 Jan 15;409(2):406-19. doi: 10.1016/j.ydbio.2015.11.022. Epub 2015 Nov 30. (Medline PMCID: 4724489)

Buscaglia G, Northington KR, Moore JK, Bates EA. Reduced TUBA1A Tubulin Causes Defects in Trafficking and Impaired Adult Motor Behavior. eNeuro. 2020 Apr 27;7(2):ENEURO.0045-20.2020. doi: 10.1523/ENEURO.0045-20.2020. (Medline PMCID: 7218002)

Colony and Husbandry Information

Survival of heterozygous animals is improved with MgSO4 supplementation in the water.

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
Agouti
Eye
Black
MMRRC Breeding System
Backcross
Generation
N12 (129S1/SvImJ)
Overall Breeding Performance
Poor
Viability and Fertility: Female Male Comments
Homozygotes are viable: No No
Homozygotes are fertile: N/A N/A
Heterozygotes are fertile: Yes Yes
Age Reproductive Decline: 7 to 9 months 7 to 9 months
Average litter size
7 to 9
Recommended wean age
4 Weeks
Average Pups Weaned
7 to 9

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.

A Commercial License Agreement from the Donor is required for for-profit entities to use this strain.

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.

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
068489-UCD-EMBRYO Cryo-preserved embryos $1,038.00 / $1,545.65
Non-Profit / For-Profit
Aliquot Approximate quantity2 : 20-40 embryos / aliquot
068489-UCD-SPERM Cryo-preserved spermatozoa $546.25 / $869.88
Non-Profit / For-Profit
Aliquot Approximate quantity3
068489-UCD-RESUS Litter recovered from cryo-archive $4,044.00 / $7,650.23
Non-Profit / For-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.