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 |
|
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
MGI phenotypes (gene matching)
- abnormal ear pigmentation / MGI
- abnormal cochlea morphology / MGI
- abnormal organ of Corti morphology / MGI
- organ of Corti degeneration / MGI
- abnormal stria vascularis morphology / MGI
- decreased circulating LDL cholesterol level / MGI
- decreased circulating HDL cholesterol level / MGI
- decreased hematocrit / MGI
- abnormal erythropoiesis / MGI
- macrocytosis / MGI
- increased mast cell number / MGI
- decreased bone marrow cell number / MGI
- decreased mast cell number / MGI
- altered response to myocardial infarction / MGI
- head blaze / MGI
- diluted coat color / MGI
- irregular coat pigmentation / MGI
- belly spot / MGI
- alopecia / MGI
- abnormal digestive system morphology / MGI
- abnormal esophagus morphology / MGI
- abnormal cecum morphology / MGI
- enlarged spleen / MGI
- spleen hyperplasia / MGI
- spleen hypoplasia / MGI
- decreased thymocyte number / MGI
- abnormal female reproductive system morphology / MGI
- abnormal oocyte morphology / MGI
- abnormal ovary morphology / MGI
- small ovary / MGI
- ovary hyperplasia / MGI
- impaired ovarian folliculogenesis / MGI
- abnormal ovarian folliculogenesis / MGI
- abnormal ovarian follicle morphology / MGI
- constricted vagina orifice / MGI
- abnormal male reproductive system morphology / MGI
- small testis / MGI
- Leydig cell hyperplasia / MGI
- arrest of spermatogenesis / MGI
- abnormal spermatogenesis / MGI
- pigmentation phenotype / MGI
- hyperpigmentation / MGI
- absent skin pigmentation / MGI
- reddish skin / MGI
- decreased body weight / MGI
- distended abdomen / MGI
- abnormal eye pigmentation / MGI
- anemia / MGI
- abnormal erythrocyte cell number / MGI
- abnormal vascular permeability / MGI
- abnormal digestive system physiology / MGI
- postnatal growth retardation / MGI
- increased circulating luteinizing hormone level / MGI
- arrested B cell differentiation / MGI
- kidney inflammation / MGI
- decreased inflammatory response / MGI
- reduced fertility / MGI
- reduced male fertility / MGI
- reduced female fertility / MGI
- infertility / MGI
- male infertility / MGI
- female infertility / MGI
- decreased litter size / MGI
- testis hypoplasia / MGI
- deafness / MGI
- increased papilloma incidence / MGI
- ovary cysts / MGI
- abnormal coat/hair pigmentation / MGI
- prenatal lethality / MGI
- perinatal lethality / MGI
- postnatal lethality / MGI
- premature death / MGI
- abnormal skin pigmentation / MGI
- abnormal muscle physiology / MGI
- abnormal definitive hematopoiesis / MGI
- abnormal B cell differentiation / MGI
- abnormal T cell differentiation / MGI
- abnormal seminiferous tubule morphology / MGI
- decreased airway responsiveness / MGI
- abnormal proerythroblast morphology / MGI
- abnormal mast cell physiology / MGI
- abnormal erythrocyte morphology / MGI
- increased mean corpuscular volume / MGI
- decreased mean corpuscular volume / MGI
- high mean erythrocyte cell number / MGI
- low mean erythrocyte cell number / MGI
- increased mean platelet volume / MGI
- decreased basophil cell number / MGI
- increased hematocrit / MGI
- hepatic steatosis / MGI
- belted / MGI
- asthenozoospermia / MGI
- abnormal spermatogonia proliferation / MGI
- oligozoospermia / MGI
- absent ovarian follicles / MGI
- abnormal Sertoli cell morphology / MGI
- microcytic anemia / MGI
- macrocytic anemia / MGI
- abnormal cochlear ganglion morphology / MGI
- cochlear ganglion degeneration / MGI
- polycythemia / MGI
- decreased hemoglobin content / MGI
- decreased erythrocyte cell number / MGI
- abnormal melanocyte morphology / MGI
- abnormal otolith morphology / MGI
- white spotting / MGI
- head spot / MGI
- variable body spotting / MGI
- increased urine protein level / MGI
- abnormal primordial germ cell migration / MGI
- no phenotypic analysis / MGI
- increased myocardial infarction size / MGI
- decreased vascular permeability / MGI
- increased erythrocyte cell number / MGI
- increased erythroid progenitor cell number / MGI
- enlarged otoliths / MGI
- abnormal tectorial membrane morphology / MGI
- reversion by mitotic recombination / MGI
- intestinal obstruction / MGI
- increased esophageal papilloma incidence / MGI
- peptic ulcer / MGI
- decreased susceptibility to induced arthritis / MGI
- decreased tumor growth/size / MGI
- abnormal response/metabolism to endogenous compounds / MGI
- abnormal male reproductive system physiology / MGI
- pallor / MGI
- increased tumor growth/size / MGI
- belly blaze / MGI
- decreased fetal size / MGI
- vestibular hair cell degeneration / MGI
- cochlear hair cell degeneration / MGI
- thin stria vascularis / MGI
- abnormal strial basal cell morphology / MGI
- abnormal strial marginal cell morphology / MGI
- abnormal stria vascularis vasculature morphology / MGI
- abnormal cochlear outer hair cell morphology / MGI
- absent endocochlear potential / MGI
- absent oocytes / MGI
- decreased testis weight / MGI
- decreased male germ cell number / MGI
- decreased epididymis weight / MGI
- increased B cell number / MGI
- decreased B cell number / MGI
- increased susceptibility to parasitic infection / MGI
- abnormal melanosome morphology / MGI
- azoospermia / MGI
- absent coat pigmentation / MGI
- non-pigmented tail tip / MGI
- decreased circulating cholesterol level / MGI
- abnormal renal glomerulus morphology / MGI
- homeostasis/metabolism phenotype / MGI
- hearing/vestibular/ear phenotype / MGI
- growth/size/body region phenotype / MGI
- digestive/alimentary phenotype / MGI
- immune system phenotype / MGI
- reproductive system phenotype / MGI
- hematopoietic system phenotype / MGI
- abnormal action potential / MGI
- thrombocytosis / MGI
- abnormal body temperature / MGI
- increased mean corpuscular hemoglobin / MGI
- increased hemoglobin content / MGI
- decreased susceptibility to type I hypersensitivity reaction / MGI
- increased bleeding time / MGI
- increased mean corpuscular hemoglobin concentration / MGI
- abnormal response to transplant / MGI
- absent strial intermediate cells / MGI
- abnormal vestibular saccule morphology / MGI
- abnormal female germ cell morphology / MGI
- abnormal male germ cell morphology / MGI
- decreased Cajal-Retzius cell number / MGI
- abnormal ventral coat pigmentation / MGI
- increased megakaryocyte cell number / MGI
- abnormal primordial germ cell proliferation / MGI
- abnormal primordial germ cell morphology / MGI
- slow postnatal weight gain / MGI
- impaired neutrophil recruitment / MGI
- abnormal interferon level / MGI
- abnormal interleukin level / MGI
- increased mast cell degranulation / MGI
- decreased mast cell degranulation / MGI
- decreased survivor rate / MGI
- abnormal erythroid progenitor cell morphology / MGI
- abnormal ovarian follicle number / MGI
- increased physiological sensitivity to xenobiotic / MGI
- decreased physiological sensitivity to xenobiotic / MGI
- delayed female fertility / MGI
- meteorism / MGI
- abnormal primordial ovarian follicle morphology / MGI
- abnormal foot pigmentation / MGI
- enlarged cecum / MGI
- small cecum / MGI
- distended cecum / MGI
- distended ileum / MGI
- distended stomach / MGI
- increased gastrointestinal stromal tumor incidence / MGI
- abnormal interstitial cell of Cajal morphology / MGI
- interstitial cells of Cajal hyperplasia / MGI
- impaired behavioral response to xenobiotic / MGI
- increased sensitivity to induced morbidity/mortality / MGI
- increased sensitivity to xenobiotic induced morbidity/mortality / MGI
- abnormal melanoblast morphology / MGI
- abnormal melanoblast migration / MGI
- variable depigmentation / MGI
- increased gastrointestinal tumor incidence / MGI
- abnormal survival / MGI
- abnormal myenteric nerve plexus morphology / MGI
- lethality, incomplete penetrance / MGI
- lethality at weaning, incomplete penetrance / MGI
- postnatal lethality, complete penetrance / MGI
- postnatal lethality, incomplete penetrance / MGI
- neonatal lethality, complete penetrance / MGI
- neonatal lethality, incomplete penetrance / MGI
- perinatal lethality, complete penetrance / MGI
- perinatal lethality, incomplete penetrance / MGI
- prenatal lethality, complete penetrance / MGI
- embryonic lethality, complete penetrance / MGI
- embryonic lethality before implantation, complete penetrance / MGI
- embryonic lethality during organogenesis, complete penetrance / MGI
- lethality throughout fetal growth and development, complete penetrance / MGI
- prenatal lethality, incomplete penetrance / MGI
- embryonic lethality during organogenesis, incomplete penetrance / MGI
- preweaning lethality, incomplete penetrance / MGI
- increased erythroblast number / MGI
- increased erythrocyte protoporphyrin level / MGI
- decreased tail pigmentation / MGI
- decreased ear pigmentation / MGI
- glomerular crescent / MGI
- increased or absent threshold for auditory brainstem response / MGI
- abnormal circulating histamine level / MGI
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