Amphiphysin (Amph) targeted mutation mice have defects in synaptic vesicle recycling that are unmasked by stimulation suggest impairments at multiple stages of the cycle. These defects correlate with increased mortality due to rare irreversible seizures. Due to such seizures, animals die mainly between two and five months of age without other noticeable health problems. Approximately 50% of homozygotes survive to 10 months of age. Homozygotes exhibit major learning deficits.
Pietro De Camilli, Yale University School of Medicine, HHMI
Genetic Background | Generation |
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|
Allele Type | Gene Symbol | Gene Name |
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Targeted (Null/Knockout) | Amph | amphiphysin |
In addition to ablated activity of the targeted gene, these mice show a parallel dramatic reduction in amphiphysin 2 selectivity in the brain due to its enhanced degradation in the absence of amphiphysin 1. Defects in synaptic vesicle recycling that are unmasked by stimulation suggest impairments at multiple stages of the cycle. These defects correlate with increased mortality due to rare irreversible seizures. Due to such seizures, animals die mainly between two and five months of age without other noticeable health problems. Approximately 50% of homozygotes survive to 10 months of age. Homozygotes exhibit major learning deficits as demonstrated by the Morris water maze task, and show very mild fear responses in both the context test and the auditory cue test compared to their wild-type littermates. Viable homozygotes reportedly breed until about three months of age and produce small litters of just two to three pups.
A targeting vector was used to replace most of the 3' end of the first coding exon and a fragment of the following intron with PGK-neomycin resistance cassette placed in the same transcriptional orientation as the gene. The targeting vector was introduced to an 129SV/J agouti-derived embryonic stem (ES) cell line. Chimeras were bred to C57BL/6 by the donating laboratory (specific backcross generation unknown).
Allele Name | targeted mutation 1, Pietro De Camilli |
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Allele Type | Targeted (Null/Knockout) |
Allele Synonym(s) | |
Gene Symbol and Name | Amph, amphiphysin |
Gene Synonym(s) | |
Strain of Origin | 129/Sv |
Chromosome | 13 |
Molecular Note | Exon 1 was disrupted by the insertion of a neomycin selection cassette. Protein was undetected by Western blot analysis and immunofluorescence staining. |
Mutations Made By | Pietro De Camilli, Yale University School of Medicine, HHMI |
When maintained as a live colony, homozyogotes or heterozygotes may be bred. Homozygotes sometimes have seizures and may die at ~3 months of age. Surviving homozygotes do not breed well after they are 3 months of age. Homozygote x homozygote crosses produce small litters of 2-3 pups each.
When using the B6;129-Amphtm1Pdc/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #008514 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Heterozygous for Amph<tm1Pdc> |
Frozen Mouse Embryo | B6;129-Amph<tm1Pdc>/J Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | B6;129-Amph<tm1Pdc>/J Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | B6;129-Amph<tm1Pdc>/J Frozen Embryo | $3373.50 |
Frozen Mouse Embryo | B6;129-Amph<tm1Pdc>/J Frozen Embryo | $3373.50 |
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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
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