Loading...

Strain Detail Sheet

Strain Name:
B6.129-Dnajc6tm1Legr/Mmjax
Stock Number:
036980-JAX
Citation ID:
RRID:MMRRC_036980-JAX
Other Names:
auxilin knockout mouse,

Strain Information

Gene Details

Dnajc6tm1Legr
Name: DnaJ heat shock protein family (Hsp40) member C6; targeted mutation 1, Lois Greene
Synonyms: Dnajc6tm1Pdc
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 4
Alteration at locus: Knockout
Dnajc6
Name: DnaJ heat shock protein family (Hsp40) member C6
Synonyms: 2810027M23Rik, auxilin
Type: Gene
Species: Mouse
Chromosome: 4
Alteration at locus: Knockout
NCBI: 72685
Homologene: 8865

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

Mice homozygous for the null Dnajc6 or auxilin (DnaJ (Hsp40) homolog, subfamily C, member 6) allele exhibit high mortality at birth, decreased female fertility, an increase of assembled clathrin on vesicles and a decreased ratio of vesicle endocytosis at hippocampal synapses. This strain may be useful for studying synaptic vesicle recycling and early-onset Parkinson's.

Genotype Determination
ES Cell Line
GSI

Strain Description

Phenotype
Dnajc6 or auxilin (DnaJ (Hsp40) homolog, subfamily C, member 6) encodes a neuron-specific member of the DnaJ/Hsp40 family of proteins that functions as a co-chaperone involved in clathrin uncoating of clathrin coated vesicles (CCV). Mutations in DNAJC6 are associated with juvenile Parkinsonism. Homozygous mice exhibit a high mortality at birth. Pups that survive have a lower body weight (intermediate in heterozygotes) and a normal lifespan. Although loss of auxilin results in a compensatory increase in the chaperonin GAK, a significant accumulation of CCV and empty clathrin cages is observed in synapses as well as a decreased ratio of vesicle endocytosis at hippocampal synapses. This strain may be useful for studying synaptic vesicle recycling and early-onset Parkinson's.
Mammalian Phenotype Terms
Allelic Composition: Dnajc6tm1Legr/Dnajc6tm1Legr (Genetic Background: B6.129-Dnajc6tm1Legr )
Allelic Composition: Dnajc6tm1Legr/Dnajc6+ (Genetic Background: B6.129-Dnajc6tm1Legr )
MeSH Terms
  • Animals
  • Auxilins/genetics
  • Auxilins/physiology
  • Clathrin/metabolism
  • Endocytosis
  • Female
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Nerve Endings/metabolism
  • Protein-Serine-Threonine Kinases/metabolism
  • Synapses/metabolism
  • Up-Regulation
  • Adolescent
  • Auxilins/metabolism
  • Base Sequence
  • DNA Mutational Analysis/methods
  • Family Health
  • HSP40 Heat-Shock Proteins/genetics
  • HSP40 Heat-Shock Proteins/metabolism
  • Humans
  • Male
  • Molecular Chaperones/genetics
  • Molecular Chaperones/metabolism
  • Mutation
  • Neurons/metabolism
  • Parkinsonian Disorders/genetics
  • Pedigree
Strain Development
A targeting vector containing the neomycin resistance gene was used to disrupt exon 3. The construct was electroporated into 129/Sv-derived GSI embryonic stem (ES) cells. Correctly targeted ES cells were injected into blastocysts. The resulting chimeric animals were crossed to C57BL/6 female mice. Offspring were backcrossed to C57BL/6 for 20 generations. Upon arrival, mice were bred to C57BL/6J for at least 1 generation to establish the colony.
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

  • Neurobiology

Strain Origin

Donor
Lois Greene, Ph.D., National Heart, Lung, and Blood Institute (NHLBI).
Primary Reference

Yim YI, Sun T, Wu LG, Raimondi A, De Camilli P, Eisenberg E, Greene LE. Endocytosis and clathrin-uncoating defects at synapses of auxilin knockout mice. Proc Natl Acad Sci U S A. 2010 Mar 2;107(9):4412-7. doi: 10.1073/pnas.1000738107. Epub 2010 Feb 16. (Medline PMID: 20160091)

Edvardson S, Cinnamon Y, Ta-Shma A, Shaag A, Yim YI, Zenvirt S, Jalas C, Lesage S, Brice A, Taraboulos A, Kaestner KH, Greene LE, Elpeleg O. A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism. PLoS One. 2012;7(5):e36458. doi: 10.1371/journal.pone.0036458. Epub 2012 May 1. (Medline PMID: 22563501)

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
Black

Breeding

MMRRC Breeding System
Sib-mating
Breeding Scheme(s)

use harem breeding because some females have fertility problems

Generation
N20
Overall Breeding Performance
Poor

Reproductive Statistics

Viability and Fertility: Female Male Comments
Homozygotes are viable: Yes Yes
Homozygotes are fertile: Reduced Reduced
Heterozygotes are fertile: Yes Yes
Age Reproductive Decline: 10 months 10 months
Average litter size
4-6
Recommended wean age
3-4 weeks

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.

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.