Phenotypes Associated with This Genotype

Genotype
MGI:3603337

• Allelic Composition: Kit^tm1Bpr/Kit^tm1Bpr
• Genetic Background: either: (involves: 129/Sv) or (involves: 129/Sv * C57BL/6)

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

decreased tumor-free survival time ( J:100778 )

• die by 30 weeks of age due to gastrointestinal obstruction by hyperplastic interstitial cells of Cajal or gastrointestinal stromal tumors

cellular

absent oocytes ( J:100778 )

♀ • ovaries are devoid of germ cells

azoospermia ( J:100778 )

♂ • mature spermatids or spermatozoa are absent

pigmentation

absent coat pigmentation ( J:100778 )

• have uniform white coats with normally pigmented dark brown eyes

hematopoietic system

decreased mast cell number ( J:100778 )

• decrease in dermal mast cells

immune system

decreased mast cell number ( J:100778 )

• decrease in dermal mast cells

neoplasm

increased gastrointestinal stromal tumor incidence ( J:100778 )

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

reproductive system

absent oocytes ( J:100778 )

♀ • ovaries are devoid of germ cells

azoospermia ( J:100778 )

♂ • mature spermatids or spermatozoa are absent

abnormal ovary morphology ( J:100778 )

♀ • ovaries consist of stromal cells that range from spindle shaped to more rounded inhibin-positive/Kit-negative luteinized cells

small ovary ( J:100778 )

♀

abnormal seminiferous tubule morphology ( J:100778 )

♂ • seminiferous tubules contain only one layer of primary germ cells and no spermatids and contain abundant, pale, eosinophilic, flocculent secretions

increased Leydig cell number ( J:100778 )

♂ • progressive Leydig cell hyperplasia as mice age

female infertility ( J:100778 )

♀

male infertility ( J:100778 )

♂

digestive/alimentary system

abnormal digestive system morphology ( J:100778 )

• 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

abnormal cecum morphology ( J:100778 )

• ceca are abnormally firm and contain tumors

distended ileum ( J:100778 )

• subset of mice develop mega-ileum due to gastrointestinal tract obstruction at the cecum

increased gastrointestinal stromal tumor incidence ( J:100778 )

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

intestinal obstruction ( J:100778 )

• intestinal obstruction at the pylorus or the cecum is seen shortly after weaning and leads to death

growth/size/body

distended abdomen ( J:100778 )

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

endocrine/exocrine glands

abnormal ovary morphology ( J:100778 )

♀ • ovaries consist of stromal cells that range from spindle shaped to more rounded inhibin-positive/Kit-negative luteinized cells

small ovary ( J:100778 )

♀

abnormal seminiferous tubule morphology ( J:100778 )

♂ • seminiferous tubules contain only one layer of primary germ cells and no spermatids and contain abundant, pale, eosinophilic, flocculent secretions

increased Leydig cell number ( J:100778 )

♂ • progressive Leydig cell hyperplasia as mice age

integument

absent coat pigmentation ( J:100778 )

• have uniform white coats with normally pigmented dark brown eyes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
gastrointestinal stromal tumor		DOID:9253	OMIM:606764	J:100778