MGI phenotypes (allele matching)
- belly spot / MGI
B6;129P2-Kitd18/Cnrm
| Status | Available to order |
| EMMA ID | EM:01541 |
| International strain name | B6;129P2-Kitd18/Cnrm |
| Alternative name | Kit delta ex18 |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Kitd18, |
| Gene/Transgene symbol | Kit |
Information from provider
| Provider | Boris Greber |
| Provider affiliation | Max Planck Institute for Brain Research, Max Planck Institute for Brain Research |
| Genetic information | The mutant ES cell clone was isolated from an archive of ENU-treated cells via an RT genotyping-based screening protocol aiming at the identification of splice mutations. Underlying mutation: the canonical splice donor site (GT) of Kit intron 18 has been changed to AT leading to the skipping of exon 18 at the RNA level. |
| Phenotypic information | There are pleiotropic defects associated with mutations in the Kit gene. We have only investigated pigmentation defects. Heterozygous mice of line Kit delta ex18 lack pigmentation at the following zones: parts of the belly, feet, tail tip. Homozygous mice are entirely devoid of pigmentation. |
| Breeding history | Chimeric mice were generated by injecting mutant clone E14.1 ES cells (129P2/OlaHsd) into C57BL/6 blastocysts followed by embryo transfer into pseudopregnant females. Resulting chimeras were mated to C57BL/6 females. Offspring of a heterozygous founder animal were mated to each other resulting in heterozygous and homozygous mutants (current status). |
| References |
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Information from EMMA
| Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Systemic mastocytosis with associated hematologic neoplasm / Orphanet_98849
- Isolated bone marrow mastocytosis / Orphanet_158778
- Acute myeloblastic leukemia with maturation / Orphanet_98834
- Gastrointestinal stromal tumor / Orphanet_44890
- Testicular seminomatous germ cell tumor / Orphanet_842
- Smoldering systemic mastocytosis / Orphanet_158775
- Piebaldism / Orphanet_2884
- Typical urticaria pigmentosa / Orphanet_158766
- Pseudoxanthomatous diffuse cutaneous mastocytosis / Orphanet_280794
- Plaque-form urticaria pigmentosa / Orphanet_158769
- Chronic mast cell leukemia / Orphanet_566396
- Telangiectasia macularis eruptiva perstans / Orphanet_90389
- Acute mast cell leukemia / Orphanet_566393
- Cutaneous mastocytoma / Orphanet_79455
- Bullous diffuse cutaneous mastocytosis / Orphanet_280785
- Nodular urticaria pigmentosa / Orphanet_158772
Literature references
- Mouse splice mutant generation from ENU-treated ES cells--a gene-driven approach.;Greber Boris, Lehrach Hans, Himmelbauer Heinz, ;2005;Genomics;85;557-62; 15820307