These mice carry a spontaneous autosomal recessive hair mutation (fold) exhibiting abnormal hair growth and shortened lifespans.
Kenneth Johnson, JAX
Genetic Background | Generation |
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|
Allele Type | Gene Symbol | Gene Name |
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Spontaneous | Ass1 | argininosuccinate synthetase 1 |
At 1 week of age fold homozygotes lack hair such that they can be distinguished from their control littermates, and at 2 weeks of age fold homozygotes have wrinkled skin. A sparse coat does grow in. Homozygotes are smaller than littermate controls throughout their lives and most die at 3 weeks of age.
The follicular dystrophy mutation arose spontaneously in 1996 on the inbred P/J strain at The Jackson Laboratory. The mutation has been identified as a C to T transition in exon 15 of the Ass1 (argininosuccinate synthetase 1) gene resulting in a threonine for isoleucine (T389I) amino acid substitution. Because of the difficulty in maintaining this mutation on the pure P/J background it was outcrossed to C57BL/6JEi and subsequently maintained via backcross-intercross to C57BL/6JEi. This strain reached NE4 and was maintained by progeny testing and sibling inbreeding proven heterozygotes for 7 generations before being backcrossed again to C57BL/6JEi.
Allele Name | follicular dystrophy |
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Allele Type | Spontaneous |
Allele Synonym(s) | |
Gene Symbol and Name | Ass1, argininosuccinate synthetase 1 |
Gene Synonym(s) | |
Strain of Origin | P/J |
Chromosome | 2 |
Molecular Note | A C to T transition in exon 15, results in a threonine to isoleucine (T389I) substitution, producing a hypomoph. Measurement of RNA by quantitative real-time PCR, and protein by Western Blot and Immunohistochemistry showed no changes in level compared to wild-type. |
When maintaining a live colony, heterozygous mice may be bred together, to wild-type mice from the colony or to C57BL/6JEiJ inbred mice (Stock No. 000924). Most homozygotes die by three weeks of age.
When using the fold mouse strain in a publication, please cite the originating article(s) and include JAX stock #006449 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Please inquire |
Frozen Mouse Embryo | B6Ei.P-Ass1<fold>/GrsrJ | $2595.00 |
Frozen Mouse Embryo | B6Ei.P-Ass1<fold>/GrsrJ | $2595.00 |
Frozen Mouse Embryo | B6Ei.P-Ass1<fold>/GrsrJ | $3373.50 |
Frozen Mouse Embryo | B6Ei.P-Ass1<fold>/GrsrJ | $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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