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Phenotypes Associated with This Genotype
Genotype
MGI:2663997
Allelic
Composition
Kittm2Bsm/Kit+
Genetic
Background
involves: 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kittm2Bsm mutation (0 available); any Kit mutation (113 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• starting at 4 weeks of age, heterozygotes develop symptoms of disease and eventually die from pathology in the GI tract, showing a 50% survival rate at 9 months of age (J:83616)
• starting at 4 weeks of age, heterozygotes develop symptoms of disease and eventually die from pathology in the GI tract, showing a 50% survival rate at 9 months of age (J:83616)

digestive/alimentary system
• 7 of 14 heterozygotes exhibit a well-defined, black-pigmented distal esophagus at the gastro-esophageal junction (J:83616)
• EM analysis indicates melanosomes, discontinuous external lamina, short cell processes, and single centrally located nucleoli (J:83616)
• 7 of 14 heterozygotes exhibit a well-defined, black-pigmented distal esophagus at the gastro-esophageal junction (J:83616)
• EM analysis indicates melanosomes, discontinuous external lamina, short cell processes, and single centrally located nucleoli (J:83616)
• all (14 of 14) heterozygotes exhibit a firm white nodular mass of variable size (1 mm to 2 cm) in the cecum (J:83616)
• all (14 of 14) heterozygotes exhibit a firm white nodular mass of variable size (1 mm to 2 cm) in the cecum (J:83616)
• 9 of 14 heterozygotes display a distended cecum with clear fluid or pus-like contents (J:83616)
• atrophy of the colonic folds, lumen distension, and in one case abscess formation associated with acute serositis are observed (J:83616)
• 9 of 14 heterozygotes display a distended cecum with clear fluid or pus-like contents (J:83616)
• atrophy of the colonic folds, lumen distension, and in one case abscess formation associated with acute serositis are observed (J:83616)
• 9 of 14 heterozygotes display an enlarged cecum (J:83616)
• 9 of 14 heterozygotes display an enlarged cecum (J:83616)
• 12 of 14 heterozygotes display variable distention of the distal ileum (mega-ileum) ending at the level of the cecum (J:83616)
• however, the remaining small intestine, stomach, colon, and anus appear morphologically normal (J:83616)
• 12 of 14 heterozygotes display variable distention of the distal ileum (mega-ileum) ending at the level of the cecum (J:83616)
• however, the remaining small intestine, stomach, colon, and anus appear morphologically normal (J:83616)

tumorigenesis
• heterozygotes exhibit neoplastic lesions of GISTs predominantly in the myenteric plexus of the cecum (J:83616)
• heterozygotes exhibit neoplastic lesions of GISTs predominantly in the myenteric plexus of the cecum (J:83616)

pigmentation
• 7 of 14 heterozygotes display hypepigmentation of the distal esophagus at the gastro-esophageal junction (J:83616)
• 5 of 6 heterozygotes with a dark distal esophagus contain melanosomes specifically within the myenteric plexus (J:83616)
• pigmented areas of the esophageal myenteric plexus contain large, ovoid cells with abundant cytoplasm filled with numerous stage IV melanosomes, and are surrounded by a discontinuous linear basal lamina (J:83616)
• pigmented cells are intermixed with other cell components of the myenteric plexus, including Schwann cells, axonal processes, and interstitial cells of Cajal (J:83616)
• 7 of 14 heterozygotes display hypepigmentation of the distal esophagus at the gastro-esophageal junction (J:83616)
• 5 of 6 heterozygotes with a dark distal esophagus contain melanosomes specifically within the myenteric plexus (J:83616)
• pigmented areas of the esophageal myenteric plexus contain large, ovoid cells with abundant cytoplasm filled with numerous stage IV melanosomes, and are surrounded by a discontinuous linear basal lamina (J:83616)
• pigmented cells are intermixed with other cell components of the myenteric plexus, including Schwann cells, axonal processes, and interstitial cells of Cajal (J:83616)

immune system
• heterozygotes show a 4-fold increase in the number of mast cells in the dorsal skin and peritoneum (J:83616)
• heterozygotes show a 4-fold increase in the number of mast cells in the dorsal skin and peritoneum (J:83616)
• heterozygotes exhibit extracellular granules in the vicinity of mast cells in the dorsal skin (J:83616)
• heterozygotes exhibit extracellular granules in the vicinity of mast cells in the dorsal skin (J:83616)

hematopoietic system
• heterozygotes show a 4-fold increase in the number of mast cells in the dorsal skin and peritoneum (J:83616)
• heterozygotes show a 4-fold increase in the number of mast cells in the dorsal skin and peritoneum (J:83616)
• heterozygotes exhibit extracellular granules in the vicinity of mast cells in the dorsal skin (J:83616)
• heterozygotes exhibit extracellular granules in the vicinity of mast cells in the dorsal skin (J:83616)

reproductive system
• both male and female heterozygotes are fertile but display a progressive decline in fertility with increasing age (J:83616)
• both male and female heterozygotes are fertile but display a progressive decline in fertility with increasing age (J:83616)

nervous system
• all (6 of 6) heterozygotes display patchy hyperplasia of the myenteric plexus of the stomach, cecum and large intestine (J:83616)
• 3 of 6 heterozygotes display hyperplasia of the myenteric plexus in the proximal duodenum (J:83616)
• however, no myenteric plexus hyperplasia is observed in the morphologically normal distal duodenum, jejunum, and distended ileum (J:83616)
• in addition, 5 of 6 heterozygotes exhibit patchy thickening/hyperplasia of the esophageal myenteric plexus, and hyperpigmented cells are found specifically within the myenteric plexus of the of distal esophagus (J:83616)
• all (6 of 6) heterozygotes display patchy hyperplasia of the myenteric plexus of the stomach, cecum and large intestine (J:83616)
• 3 of 6 heterozygotes display hyperplasia of the myenteric plexus in the proximal duodenum (J:83616)
• however, no myenteric plexus hyperplasia is observed in the morphologically normal distal duodenum, jejunum, and distended ileum (J:83616)
• in addition, 5 of 6 heterozygotes exhibit patchy thickening/hyperplasia of the esophageal myenteric plexus, and hyperpigmented cells are found specifically within the myenteric plexus of the of distal esophagus (J:83616)

Mouse Models of Human Disease
OMIM ID Ref(s)
Gastrointestinal Stromal Tumor; GIST 606764 J:83616


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory