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Phenotypes Associated with This Genotype
Genotype
MGI:3603337
Allelic
Composition
Kittm1Bpr/Kittm1Bpr
Genetic
Background
either: (involves: 129/Sv) or (involves: 129/Sv * C57BL/6)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kittm1Bpr mutation (0 available); any Kit mutation (113 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• die by 30 weeks of age due to gastrointestinal obstruction by hyperplastic interstitial cells of Cajal or gastrointestinal stromal tumors (J:100778)
• die by 30 weeks of age due to gastrointestinal obstruction by hyperplastic interstitial cells of Cajal or gastrointestinal stromal tumors (J:100778)

pigmentation
• have uniform white coats with normally pigmented dark brown eyes (J:100778)
• have uniform white coats with normally pigmented dark brown eyes (J:100778)

hematopoietic system
• decrease in dermal mast cells (J:100778)
• decrease in dermal mast cells (J:100778)

immune system
• decrease in dermal mast cells (J:100778)
• decrease in dermal mast cells (J:100778)

tumorigenesis
• develop gastrointestinal stromal tumors (GIST) that are composed of a dense, cellular proliferation of monomorphic spindle cells (J:100778)
• develop gastrointestinal stromal tumors (GIST) that are composed of a dense, cellular proliferation of monomorphic spindle cells (J:100778)

reproductive system
• ovaries consist of stromal cells that range from spindle shaped to more rounded inhibin-positive/Kit-negative luteinized cells (J:100778)
• ovaries consist of stromal cells that range from spindle shaped to more rounded inhibin-positive/Kit-negative luteinized cells (J:100778)
(J:100778)
(J:100778)
• seminiferous tubules contain only one layer of primary germ cells and no spermatids and contain abundant, pale, eosinophilic, flocculent secretions (J:100778)
• seminiferous tubules contain only one layer of primary germ cells and no spermatids and contain abundant, pale, eosinophilic, flocculent secretions (J:100778)
• progressive Leydig cell hyperplasia as mice age (J:100778)
• progressive Leydig cell hyperplasia as mice age (J:100778)
• ovaries are devoid of germ cells (J:100778)
• ovaries are devoid of germ cells (J:100778)
• mature spermatids or spermatozoa are absent (J:100778)
• mature spermatids or spermatozoa are absent (J:100778)
(J:100778)
(J:100778)
(J:100778)
(J:100778)

digestive/alimentary system
• interstitial cells of Cajal (ICC) hyperplasia in the esophagus, stomach, proximal duodenum, and the colon/rectum (J:100778)
• ICC is first apparent within the myenterci plexus, grows asymmetrically and is most prominent in the pylorus, where it completely effaces the muscular wall and extends through the muscularis mucosae to engulf the mucosa (J:100778)
• interstitial cells of Cajal (ICC) hyperplasia in the esophagus, stomach, proximal duodenum, and the colon/rectum (J:100778)
• ICC is first apparent within the myenterci plexus, grows asymmetrically and is most prominent in the pylorus, where it completely effaces the muscular wall and extends through the muscularis mucosae to engulf the mucosa (J:100778)
• ceca are abnormally firm and contain tumors (J:100778)
• ceca are abnormally firm and contain tumors (J:100778)
• subset of mice develop mega-ileum due to gastrointestinal tract obstruction at the cecum (J:100778)
• subset of mice develop mega-ileum due to gastrointestinal tract obstruction at the cecum (J:100778)
• intestinal obstruction at the pylorus or the cecum is seen shortly after weaning and leads to death (J:100778)
• intestinal obstruction at the pylorus or the cecum is seen shortly after weaning and leads to death (J:100778)

growth/size/body
• within 3 weeks of birth, a subset of mice develop distended abdomens due to gastrointestinal tract obstruction at the pylorus (J:100778)
• within 3 weeks of birth, a subset of mice develop distended abdomens due to gastrointestinal tract obstruction at the pylorus (J:100778)

endocrine/exocrine glands
• ovaries consist of stromal cells that range from spindle shaped to more rounded inhibin-positive/Kit-negative luteinized cells (J:100778)
• ovaries consist of stromal cells that range from spindle shaped to more rounded inhibin-positive/Kit-negative luteinized cells (J:100778)
(J:100778)
(J:100778)
• seminiferous tubules contain only one layer of primary germ cells and no spermatids and contain abundant, pale, eosinophilic, flocculent secretions (J:100778)
• seminiferous tubules contain only one layer of primary germ cells and no spermatids and contain abundant, pale, eosinophilic, flocculent secretions (J:100778)
• progressive Leydig cell hyperplasia as mice age (J:100778)
• progressive Leydig cell hyperplasia as mice age (J:100778)

integument
• have uniform white coats with normally pigmented dark brown eyes (J:100778)
• have uniform white coats with normally pigmented dark brown eyes (J:100778)

Mouse Models of Human Disease
OMIM ID Ref(s)
Gastrointestinal Stromal Tumor; GIST 606764 J:100778


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