Phenotypes for Kit MGI:3573946 MGI Mouse

hearing/vestibular/ear

cochlear hair cell degeneration ( J:96391 )

abnormal stria vascularis morphology ( J:96391 )

• expression of connexins 26 and 30 is disorganized suggesting disruption of gap junctions at the base of the stria vascularis

abnormal stria vascularis vasculature morphology ( J:96391 )

• loss of blood capillaries at 1 month of age; more disorganization and depletion of blood vessels observed at 1 year of age

absent strial intermediate cells ( J:96391 )

• loss of strial intermediate cells at 1 month of age

thin stria vascularis ( J:96391 )

increased or absent threshold for auditory brainstem response ( J:96391 )

• ABR response waves were absent in homozygous mice at 1 month of age

deafness ( J:96391 )

hematopoietic system

macrocytic anemia ( J:96391 )

decreased erythrocyte cell number ( J:96391 )

increased mean corpuscular volume ( J:96391 )

decreased mast cell number ( J:96391 )

• no mast cells were observed in homozygous skin tissues

thrombocytosis ( J:96391 )

increased mean platelet volume ( J:96391 )

reproductive system

absent ovarian follicles ( J:96391 )

• no primordial or mature ovarian follicles were present in mutant ovaries; only granulose cells were present in adult ovaries

small ovary ( J:96391 )

increased Leydig cell number ( J:96391 )

• increase of the number of Leydig cells due to enhanced mitotic activity

small testis ( J:96391 )

• gross size of the testes is smaller than in controls

arrest of spermatogenesis ( J:96391 )

• germ cells did not proliferate and differentiate

female infertility ( J:96391 )

male infertility ( J:96391 )

endocrine/exocrine glands

absent ovarian follicles ( J:96391 )

• no primordial or mature ovarian follicles were present in mutant ovaries; only granulose cells were present in adult ovaries

small ovary ( J:96391 )

increased Leydig cell number ( J:96391 )

• increase of the number of Leydig cells due to enhanced mitotic activity

small testis ( J:96391 )

• gross size of the testes is smaller than in controls

pigmentation

absent strial intermediate cells ( J:96391 )

• loss of strial intermediate cells at 1 month of age

absent coat pigmentation ( J:96391 )

• all white hair

abnormal skin pigmentation ( J:96391 )

• all white skin, but black eyes

immune system