Genetic Background | Generation |
---|---|
000664 C57BL/6J |
|
Allele Type | Gene Symbol | Gene Name |
---|---|---|
Spontaneous | Sgk3 | serum/glucocorticoid regulated kinase 3 |
Allele Type | Gene Symbol | Gene Name |
---|---|---|
Spontaneous | Mlph | melanophilin |
Marker Symbol | Marker Name | |
---|---|---|
H54 | histocompatibility 54 |
Allele Name | fuzzy |
---|---|
Allele Type | Spontaneous |
Allele Synonym(s) | |
Gene Symbol and Name | Sgk3, serum/glucocorticoid regulated kinase 3 |
Gene Synonym(s) | |
Strain of Origin | CFW stock |
Chromosome | 1 |
Molecular Note | This mutation comprises insertion of a single adenine following nucleotide 579 of the cDNA sequence, in a region encoded by exon 10 of the gene, that causes a shift in the amino acid reading frame and premature termination of protein translation following leucine 192 (Leu192Ter), which resides in the serine/threonine kinase domain. |
Allele Name | leaden |
---|---|
Allele Type | Spontaneous |
Allele Synonym(s) | ln |
Gene Symbol and Name | Mlph, melanophilin |
Gene Synonym(s) | |
Strain of Origin | C57BR |
Chromosome | 1 |
Molecular Note | This allele has a C-to-T transition at mRNA nucleotide position 266. This introduces a stop codon at arginine codon 31 (p.R31*) in the sequence of the normally spliced transcript and it also creates a new G-GT splice donor site in exon 2. Use of this alternative splice site yields a transcript with an in-frame 21 base pair deletion that deletes 7 amino acids from the translated protein. Northern blots failed to detect this size difference and did not find any change from normal in transcript expression level. Sequence analysis failed to detect any wild-type transcripts. |
Marker Synonym(s) | |
---|---|
Chromosome(s) | 1 |
Mice can be maintained as HOM HOM HOM x HOM HOM HOM matings. Both fz and ln are on chromosome 1 but are not tightly linked. Alternative mating schemes can be used to isolate fz or ln.
When using the B6.Cg-Sgk3fz H54 Mlphln/+ H54 +/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #000112 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Compound Heterozygous for allele Sgk3<fz> and allelle Mlph<ln> |
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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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