Mouse Genome Informatics
hm
    Kittm1Bpr/Kittm1Bpr
either: (involves: 129/Sv) or (involves: 129/Sv * C57BL/6)
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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

pigmentation
• have uniform white coats with normally pigmented dark brown eyes

hematopoietic system
• decrease in dermal mast cells

immune system
• decrease in dermal mast cells

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

reproductive system
• ovaries consist of stromal cells that range from spindle shaped to more rounded inhibin-positive/Kit-negative luteinized cells (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)
• progressive Leydig cell hyperplasia as mice age (J:100778)
• ovaries are devoid of germ cells (J:100778)
• mature spermatids or spermatozoa are absent (J:100778)
(J:100778)

digestive/alimentary system
• interstitial cells of Cajal (ICC) hyperplasia in the esophagus, stomach, proximal duodenum, and the colon/rectum
• 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
• ceca are abnormally firm and contain tumors
• subset of mice develop mega-ileum due to gastrointestinal tract obstruction at the cecum
• intestinal obstruction at the pylorus or the cecum is seen shortly after weaning and leads to death

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

endocrine/exocrine glands
• ovaries consist of stromal cells that range from spindle shaped to more rounded inhibin-positive/Kit-negative luteinized cells (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)
• progressive Leydig cell hyperplasia as mice age (J:100778)

integument
• have uniform white coats with normally pigmented dark brown eyes

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