These mutant mice are characterized by missing toes and a coarse tail.
Read More +Genetic Background | Generation |
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Allele Type | Gene Symbol | Gene Name |
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Radiation induced | Lyst | lysosomal trafficking regulator |
Allele Type | Gene Symbol | Gene Name |
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Radiation induced | Foxq1 | forkhead box Q1 |
Allele Type | Gene Symbol | Gene Name |
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Spontaneous | Lrp4 | low density lipoprotein receptor-related protein 4 |
The satin (Foxq1sa), beige (Lystbg), and retinal degeneration (Pde6brd1) mutations are still segregating in this mixed genetic background
Mice homozygous for the Lrp4mdig-2J mutation have toes missing from each foot, have a coarse tail, and some, but not all, have one or two extra upper incisors.
The mutation malformed digits 2 Jackson (mdig-2J) arose spontaneously at The Jackson Laboratory in 2008 on the SB/LeJ inbred background, which is homozygous for the satin and beige mutations. This mutant subline was outcrossed once to C3H/HeSnJ and the resulting progeny were intercrossed. This line has been maintained since then by sibling intercrossing heterozygotes and homozygotes and the Lystbg and Foxq1sa mutations have not been bred out of the line.
Allele Name | beige |
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Allele Type | Radiation induced |
Allele Synonym(s) | 30B/22B; bg; CHS mice |
Gene Symbol and Name | Lyst, lysosomal trafficking regulator |
Gene Synonym(s) | |
Strain of Origin | C3H/Rl |
Chromosome | 13 |
Molecular Note | This allele is an insertion of a partial LINE 1 repetitive element into an intron of the gene. The insertion included only the most 3' 1097 bp of the element producing a frameshift mutation resulting in a truncated protein predicted to be missing the last 1442 amino acids. |
Allele Name | satin |
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Allele Type | Radiation induced |
Allele Synonym(s) | sa; satin |
Gene Symbol and Name | Foxq1, forkhead box Q1 |
Gene Synonym(s) | |
Strain of Origin | (101/Rl x C3H/Rl)F1 |
Chromosome | 13 |
Molecular Note | This allele occurred in descendants of a gamma irradiation experiment. The underlying mutation was identified as a 67 bp intragenic deletion. The deletion causes a frame shift resulting in a truncated 376 amino acid protein but does not affect the first 228 residues, including the characteristic WH DNA-binding domain. The mutant protein is predicted to bind to its DNA targets but fails at transcriptional activation or repression because the specific C-terminal domains are missing. |
Allele Name | malformed digits 2 Jackson |
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Allele Type | Spontaneous |
Allele Synonym(s) | |
Gene Symbol and Name | Lrp4, low density lipoprotein receptor-related protein 4 |
Gene Synonym(s) | |
Strain of Origin | SB/LeJ |
Chromosome | 2 |
Molecular Note | Proven allelic with Lrp4mdig by failed complementation test. |
When using the malformed digits 2 Jackson mouse strain in a publication, please cite the originating article(s) and include JAX stock #010968 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Heterozygous for Lrp4<mdig-2J> |
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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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