Mutations in Ap3d1 provide models for Hermansky-Pudlak storage pool deficiency syndrome.
Read More +Genetic Background | Generation |
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Allele Type | Gene Symbol | Gene Name |
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Spontaneous | Ap3d1 | adaptor-related protein complex 3, delta 1 subunit |
Mice homozygous for the mocha 4 Jackson mutation are noticeably smaller than normal by 2 weeks of age, and develop a head tilt, constant quivering, gauntness and overall frailty. This strain is homozygous for albino so any impact that this mutation may have on pigmentation is not visible. Males homozygotes have not bred and females are poor breeders so this strain should be maintained by breeding heterozygotes. Bleed-time has not been assessed for this allele.
The mocha 4 Jackson mutation was identified in the F2 population of a mapping outcross between B6(129P2)-shsn/GrsrJ and BALB/cByJ. This mutation was backcrossed onto BALB/cByJ three times before sperm was cryopreserved from heterozygous males.
Allele Name | mocha 4 Jackson |
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Allele Type | Spontaneous |
Allele Synonym(s) | |
Gene Symbol and Name | Ap3d1, adaptor-related protein complex 3, delta 1 subunit |
Gene Synonym(s) | |
Strain of Origin | (B6(129P2)-shsn/GrsrJ x BALB/cJ)F2 |
Chromosome | 10 |
General Note | Because this spontaneous mutation arose on and was characterized on an albino background it is not known whether it causes diluted pigmentation. |
Molecular Note | This spontaneous 8 base pair deletion of GTAGCAGG from chromosome 10 position 80,709,203-210 (GRCm38) causes a frameshift mutation beginning at amino acid position 1098 and subsequent premature termination. |
When using the STOCK Ap3d1mh-4J/GrsrJ mouse strain in a publication, please cite the originating article(s) and include JAX stock #022088 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Heterozygous or wildtype for Ap3d1<mh-4J> |
Frozen Mouse Embryo | STOCK Ap3d1<mh-4J>/GrsrJ Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | STOCK Ap3d1<mh-4J>/GrsrJ Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | STOCK Ap3d1<mh-4J>/GrsrJ Frozen Embryo | $3373.50 |
Frozen Mouse Embryo | STOCK Ap3d1<mh-4J>/GrsrJ 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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