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.
Lois Greene, NIH
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.
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.
|Allele Name||targeted mutation 1, Lois Greene|
|Allele Type||Targeted (Null/Knockout)|
|Gene Symbol and Name||Dnajc6, DnaJ heat shock protein family (Hsp40) member C6|
|Strain of Origin||129/Sv|
|General Note||ES cell line = GSI|
|Molecular Note||Part of exon 3 was replaced with a neo cassette. The absence of protein expression was confirmed by western blot analysis on brain extracts.|
Homozygote female mice exhibit a delayed sexual maturity. Both females and males have a high postnatal mortality rate. The donating investigator maintains this strain by homozygote x homozygote matings, but increases the number of matings to compensate for loss.
When using the B6.129-Dnajc6tm1Legr/Mmjax mouse strain in a publication, please cite the originating article(s) and include MMRRC stock #36980 in your Materials and Methods section.