Strain Name:
C57BL/6J-Gja8L1/Mmucd
Stock Number:
030332-UCD
Citation ID:
RRID:MMRRC_030332-UCD
Other Names:
L1, C57BL/6J-Gja8L1/Mmcd
Major Collection:

Strain Information

Gja8L1
Name: gap junction protein, alpha 8; lens mutation 1
Synonyms: Cx50S50P, alpha8S50P
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 3
Alteration at locus: Chemically Induced
Gja8
Name: gap junction protein, alpha 8
Synonyms: connexin 50, alpha 8 connexin, dcm, Lop10, Aey5, Cnx50, Cx50
Type: Gene
Species: Mouse
Chromosome: 3
Alteration at locus: Chemically Induced
NCBI: 14616
HGNC: HGNC:4281
Homologene: 3857
Genetic Alterations
ENU-induced T to C transversion at position 219 of the Gja8 gene. Results in a serine to proline switch at codon 50.
Genotype Determination
Phenotype
Homozygous: Homozygous animals develop cataracts that affect the entire lens and also have small eyes (30% the size of wild type at the age of 3 weeks). Mature fiber cells of the lenses are severely perturbed in homozygous animals.

Heterozygous: The L1 mutant was identified among G1 mice born to ENU-mutagenized sires by slit-lamp examination, which detects cataracts. Heterozygous animals develop cataracts that affet the entire lens and also have small eyes (30% the size of wild type at the age of 3 weeks).

Mature fiber cells are severely altered in both genotypes, but the elongation of primary fiber cells is significantly perturbed only in heterozygous animals. At embryonic day (E) 15.5, a large cystic lumen was observed in the lens between posterior primary fiber cells and anterior epithelium with 100% penetrance in heterozygote L1 mice.
Mammalian Phenotype Terms
Allelic Composition: Gja8L1/Gja8L1 (Genetic Background: involves: C3H/HeJ * C57BL/6J )

Allelic Composition: Gja8L1/Gja8+ (Genetic Background: involves: C3H/HeJ * C57BL/6J )

Allelic Composition: Gja8L1/Gja8tm1Scr (Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H/HeJ * C57BL/6J )

MeSH Terms
  • Animals
  • Cataract/genetics
  • Cataract/pathology
  • Chromosome Mapping
  • Chromosomes
  • Connexins/genetics
  • Gap Junctions/genetics
  • Gap Junctions/pathology
  • Gap Junctions/ultrastructure
  • Genetic Linkage
  • Heterozygote
  • Lens, Crystalline/embryology
  • Lens, Crystalline/pathology
  • Lens, Crystalline/ultrastructure
  • Lod Score
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Microphthalmos/genetics
  • Models, Biological
  • Mutation, Missense
Strain Development
Original mutant is a C57BL/6J G1 ENU- induced mutant; all subsequent crosses to maintain strain were on a C57BL/6J background only.
Suggested Control Mice

Wildtype 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.
  • Internal/Organ
  • Models for Human Disease
  • Eye and Vision
Donor
Bruce Beutler, M.D., The Scripps Research Institute
Primary Reference
  • Xia CH, Liu H, Cheung D, Cheng C, Wang E, Du X, Beutler B, Lo WK, Gong X. Diverse gap junctions modulate distinct mechanisms for fiber cell formation during lens development and cataractogenesis. Development. 2006 May;133(10):2033-40. Epub 2006 Apr 12. (Medline PMID: 16611690)
  • For additional information see: Mutagenetix, a catalog of mutations identified in the Beutler Laboratory at The Scripps Research Institute.

Colony and Husbandry Information

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.

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
030332-UCD-EMBRYO Cryo-preserved embryos $1,038.00 / Non-Profit Aliquot Approximate quantity2 : 20-40 embryos / aliquot
030332-UCD-SPERM Cryo-preserved spermatozoa $546.25 / Non-Profit Aliquot Approximate quantity3
030332-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.