Strain Name:
B6J.Cg-Cacna1ftm1Ntbh/Mmucd
Stock Number:
068052-UCD
Citation ID:
RRID:MMRRC_068052-UCD
Other Names:
Cacna1f-G305X, or G305X, or Cacna1f-KO

Gene Information

Cacna1ftm1Ntbh
Name: calcium channel, voltage-dependent, alpha 1F subunit; targeted mutation 1, N Torben Bech-Hansen
Synonyms: Cacna1fG305X
Type: Allele
Species: Mus musculus (mouse)
Chromosome: X
Alteration at locus: Knockout
Cacna1f
Name: calcium channel, voltage-dependent, alpha 1F subunit
Synonyms: Cav1.4, Sfc17
Type: Gene
Species: Mus musculus (mouse)
Chromosome: X
Alteration at locus: Knockout
NCBI: 54652
HGNC: HGNC:1393
Homologene: 74542
Genetic Alterations
Knockout mice were derived by a targeting strategy involving a 70-bp insertion in exon 7 of Cacna1f, which predicts an in-frame (TAA) stop codon at position 305 resulting in the premature termination of Cacna1f translation. X-linked transmission of this 70-bp insertional mutation was observed by RT–PCR analysis of mouse retinal transcripts.

HGVS nomenclature

  • Genbank RefSeq - mRNA: NM_019582.2
  • Genbank RefSeq, protein: NP_062528.2
  • Variant, nucleic acid level: c.913_914delinsTA (amongst other changes)
  • Variant, amino acid level, predicted: p.Gly305* (amongst other changes)
ES Cell Line

R1 derived from (129X1/SvJ x 129S1/Sv)F1-Kitl+

Phenotype
Phenotypically, this mouse is normal but is blind based on ERG and OKR findings. Ultrastructural/IHC findings show that photoreceptors fail to form synapses with bipolar and horizontal cells which can explain the blindness of this mouse.

Studies of this Cacna1f KO have shown that the Cav1.4 calcium channel, aside from its key role in the development of photoreceptor synaptogenesis, also has a regulatory role in T-cell receptor signaling and naive T cell homeostasis (PMID:21835646)
MeSH Terms
  • Animals
  • Calcium Channels/genetics
  • Calcium Channels/metabolism
  • Calcium Channels, L-Type
  • Calcium Signaling
  • Electroretinography
  • Genotype
  • Immunohistochemistry
  • Mice
  • Mutagenesis, Insertional
  • Mutation/genetics
  • Retina/cytology
  • Retina/metabolism
  • Retina/ultrastructure
  • Synaptic Transmission
  • Calcium/metabolism
  • Calcium Channels/deficiency
  • Cell Proliferation
  • Cells, Cultured
  • Homeostasis
  • Mice, Inbred C57BL
  • Mice, Knockout
  • NFATC Transcription Factors/metabolism
  • Receptors, Antigen, T-Cell/metabolism
  • Signal Transduction
  • T-Lymphocytes/cytology
  • T-Lymphocytes/immunology
  • ras Proteins/metabolism
  • Cone Dystrophy/metabolism
  • Disease Models, Animal
  • Eye Diseases, Hereditary/metabolism
  • Eye Diseases, Hereditary/pathology
  • Female
  • Genetic Diseases, X-Linked/metabolism
  • Genetic Diseases, X-Linked/pathology
  • Mutation
  • Myopia/metabolism
  • Myopia/pathology
  • Night Blindness/metabolism
  • Night Blindness/pathology
  • Synapses/metabolism
  • Cell Shape/radiation effects
  • Dendrites/metabolism
  • Light
  • Matched-Pair Analysis
  • Protein Subunits/genetics
  • Protein Subunits/metabolism
  • Retinal Cone Photoreceptor Cells/physiology
  • Retinal Horizontal Cells/cytology
  • Retinal Horizontal Cells/metabolism
  • Retinal Horizontal Cells/radiation effects
  • Synapses/genetics
  • Synapses/physiology
  • Synapses/radiation effects
  • Synaptic Transmission/genetics
  • Synaptic Transmission/physiology
  • Vision, Ocular/genetics
  • Vision, Ocular/physiology
Strain Development
This line was developed with R1 embryonic stem cells derived from (129X1/SvJ x 129S1/Sv)F1. Chimeras were mated to C57BL/6J. Backcrossing to a minimum of 15 generations, followed by intracrosses for more than 15 years.
Suggested Control Mice
C57BL/6J or wild-type litter mates
  • Cell Biology
  • Developmental Biology
  • Immunology and Inflammation
  • Models for Human Disease
  • Neurobiology
  • Research Tools
Donor
Torben Bech-Hansen, Ph.D., University of Calgary.
Primary Reference

Mansergh F, Orton NC, Vessey JP, Lalonde MR, Stell WK, Tremblay F, Barnes S, Rancourt DE, Bech-Hansen NT. Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina. Hum Mol Genet. 2005 Oct 15;14(20):3035-46. doi: 10.1093/hmg/ddi336. Epub 2005 Sep 9. (Medline PMID: 16155113)

Omilusik K, Priatel JJ, Chen X, Wang YT, Xu H, Choi KB, Gopaul R, McIntyre-Smith A, Teh HS, Tan R, Bech-Hansen NT, Waterfield D, Fedida D, Hunt SV, Jefferies WA. The Ca(v)1.4 calcium channel is a critical regulator of T cell receptor signaling and naive T cell homeostasis. Immunity. 2011 Sep 23;35(3):349-60. doi: 10.1016/j.immuni.2011.07.011. Epub 2011 Aug 11. (Medline PMID: 21835646)

Waldner DM, Giraldo Sierra NC, Bonfield S, Nguyen L, Dimopoulos IS, Sauvé Y, Stell WK, Bech-Hansen NT. Cone dystrophy and ectopic synaptogenesis in a Cacna1f loss of function model of congenital stationary night blindness (CSNB2A). Channels (Austin). 2018 Jan 1;12(1):17-33. doi: 10.1080/19336950.2017.1401688. Epub 2018 Jan 2. (Medline PMID: 29179637)

Waldner DM, Ito K, Chen LL, Nguyen L, Chow RL, Lee A, Rancourt DE, Tremblay F, Stell WK, Bech-Hansen NT. Transgenic Expression of Cacna1f Rescues Vision and Retinal Morphology in a Mouse Model of Congenital Stationary Night Blindness 2A (CSNB2A). Transl Vis Sci Technol. 2020 Oct 14;9(11):19. doi: 10.1167/tvst.9.11.19. (Medline PMID: 33117610)

Raven MA, Orton NC, Nassar H, Williams GA, Stell WK, Jacobs GH, Bech-Hansen NT, Reese BE. Early afferent signaling in the outer plexiform layer regulates development of horizontal cell morphology. J Comp Neurol. 2008 Feb 10;506(5):745-58. doi: 10.1002/cne.21526. Erratum in: J Comp Neurol. 2009 Mar 20;513(3):331. (Medline PMID: 18076080)

Colony and Husbandry Information

This mouse has no particular husbandry requirements.

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
Black
Eye
Black
MMRRC Breeding System
Backcross and random intra-strain mating
Generation
N20+ (C57BL/6J), F? (15 years)
Overall Breeding Performance
Excellent
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: Yes Yes
Homozygotes are fertile: Yes N/A
Hetero/Hemizygotes are fertile: Yes X-linked
Age Reproductive Decline: Greater than 12 months Greater than 12 months
Average litter size
4 to 6
Recommended wean age
3 Weeks
Average Pups Weaned
4 to 6

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
068052-UCD-SPERM Cryo-preserved spermatozoa $546.25 / Non-Profit Aliquot Approximate quantity3
068052-UCD-RESUS Litter recovered from cryo-archive $3,033.00 / Non-Profit Litter Recovered litter4; additional fees for any special requests.
Cryopreserved material may be available upon request, please inquire to mmrrc@ucdavis.edu 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.